Gene SymbolOMIMPhenotypeMutationrsIDChromosomePositionRefAltInfo
AVP192340DIABETES INSIPIDUS, NEUROHYPOPHYSEALAVP, GLY57SERrs121964882203083037CTdbSNP_138;TSA=SNV;CLIN_pathogenic;AA=C
AVP192340DIABETES INSIPIDUS, NEUROHYPOPHYSEALAVP, GLY17VALrs121964883203083156CAdbSNP_138;TSA=SNV;CLIN_pathogenic;AA=C
AVP192340DIABETES INSIPIDUS, NEUROHYPOPHYSEALAVP, CYS67TERrs121964884203083005GTdbSNP_138;TSA=SNV;CLIN_pathogenic;AA=G
AVP192340DIABETES INSIPIDUS, NEUROHYPOPHYSEALAVP, GLY62TRPrs121964885203083022CAdbSNP_138;TSA=SNV;CLIN_pathogenic;AA=C
AVP192340DIABETES INSIPIDUS, NEUROHYPOPHYSEALAVP, GLY65VALrs121964886203083012CAdbSNP_138;TSA=SNV;CLIN_pathogenic;AA=C
AVP192340DIABETES INSIPIDUS, NEUROHYPOPHYSEALAVP, GLY23VALrs121964887203083138CAdbSNP_138;TSA=SNV;CLIN_pathogenic;AA=C
AVP192340DIABETES INSIPIDUS, NEUROHYPOPHYSEALAVP, GLY23ARGrs121964888203083139CGdbSNP_138;TSA=SNV;CLIN_pathogenic;AA=C
AVP192340DIABETES INSIPIDUS, NEUROHYPOPHYSEALAVP, GLU82TERrs121964889203082788CAdbSNP_138;TSA=SNV;CLIN_pathogenic;AA=C
AVP192340DIABETES INSIPIDUS, NEUROHYPOPHYSEALAVP, SER56PHErs121964890203083039GAdbSNP_138;TSA=SNV;CLIN_pathogenic;AA=G
AVP192340DIABETES INSIPIDUS, NEUROHYPOPHYSEALAVP, CYS61TYRrs121964891203083024CTdbSNP_138;TSA=SNV;CLIN_pathogenic;AA=C
AVP192340DIABETES INSIPIDUS, NEUROHYPOPHYSEALAVP, TYR2HISrs121964893203084614AGdbSNP_138;TSA=SNV;CLIN_pathogenic;AA=A
AVP192340DIABETES INSIPIDUS, NEUROHYPOPHYSEALAVP, VAL67ALArs28934878203083099AGdbSNP_138;TSA=SNV;E_Multiple_observations;CLIN_pathogenic;AA=A
AVP192340DIABETES INSIPIDUS, NEUROHYPOPHYSEALAVP, ALA-1THRrs387906511203084620CTdbSNP_138;TSA=SNV;CLIN_pathogenic;AA=C
AVP192340DIABETES INSIPIDUS, NEUROHYPOPHYSEALAVP, ALA-1VALrs387906512203084619GAdbSNP_138;TSA=SNV;CLIN_pathogenic;AA=G
AVP192340DIABETES INSIPIDUS, NEUROHYPOPHYSEALAVP, CYS116GLYrs74315383203082779ACdbSNP_138;TSA=SNV;E_Multiple_observations;CLIN_pathogenic;AA=A


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