SNVfilter web server

Gene Symbol	OMIM	Phenotype	Mutation	rsID	Chromosome	Position	Ref	Alt	Info
PAX2	167409	PAPILLORENAL SYNDROME	PAX2, 1-BP DEL, G, EX2	rs75462234	10	100749777	GG	G	dbSNP_138;TSA=deletion;CLIN_pathogenic;AA=G
PAX2	167409	PAPILLORENAL SYNDROME	PAX2, 22-BP DEL, NT674	rs76675173	10	100749831	GCTGGCCCACCAGGGTGTGCGGC	G	dbSNP_138;TSA=deletion;CLIN_pathogenic
PAX2	167409	PAPILLORENAL SYNDROME	PAX2, 1-BP DEL, NT1104	rs77777862	10	100781309	TC	T	dbSNP_138;TSA=deletion;CLIN_pathogenic;AA=C
PAX2	167409	PAPILLORENAL SYNDROME	PAX2, 6-BP DUP, NT768	rs80356379	10	100750711	G	GCGGCAG	dbSNP_138;TSA=insertion;CLIN_pathogenic
PAX2	167409	PAPILLORENAL SYNDROME	PAX2, 6-BP DUP, NT768	rs387906530	10	100750705	C	CGAGACC	dbSNP_138;TSA=insertion;CLIN_pathogenic
PAX2	167409	PAPILLORENAL SYNDROME	PAX2, 1-BP INS, 619G	rs77453353	10	100749777	G	GG,GGG	dbSNP_138;TSA=insertion;CLIN_pathogenic
PAX2	167409	PAPILLORENAL SYNDROME	PAX2, 2-BP INS, 619GG	rs77453353	10	100749777	G	GG,GGG	dbSNP_138;TSA=insertion;CLIN_pathogenic
PAX2	167409	PAPILLORENAL SYNDROME	PAX2, GLY76SER	rs79555199	10	100750707	G	A	dbSNP_138;TSA=SNV;E_Multiple_observations;CLIN_pathogenic;AA=G