ClinVar Miner

List of variants in gene IMPG1 reported by Dept Of Ophthalmology, Nagoya University

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Total variants: 48
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HGVS dbSNP gnomAD frequency
NM_001563.4(IMPG1):c.1552C>G (p.His518Asp) rs3734311 0.46014
NM_001563.4(IMPG1):c.2282G>A (p.Ser761Asn) rs3778005 0.18496
NM_001563.4(IMPG1):c.2132G>A (p.Arg711His) rs3734313 0.16006
NM_001563.4(IMPG1):c.2110C>T (p.Arg704Trp) rs10943299 0.12378
NM_001563.4(IMPG1):c.2377G>A (p.Asp793Asn) rs76604824 0.01675
NM_001563.4(IMPG1):c.1706A>G (p.Lys569Arg) rs3734312 0.01590
NM_001563.4(IMPG1):c.718G>A (p.Val240Ile) rs139136879 0.00170
NM_001563.4(IMPG1):c.1271G>A (p.Gly424Glu) rs78195046 0.00061
NM_001563.4(IMPG1):c.650C>T (p.Thr217Ile) rs139704194 0.00041
NM_001563.4(IMPG1):c.1545G>A (p.Met515Ile) rs376133758 0.00012
NM_001563.4(IMPG1):c.572A>G (p.Asn191Ser) rs200247788 0.00008
NM_001563.4(IMPG1):c.1890C>T (p.Asn630=) rs145267469 0.00006
NM_001563.4(IMPG1):c.2111G>A (p.Arg704Gln) rs528749231 0.00005
NM_001563.4(IMPG1):c.684C>T (p.Phe228=) rs201624566 0.00005
NM_001563.4(IMPG1):c.1010A>G (p.His337Arg) rs371964145 0.00004
NM_001563.4(IMPG1):c.1100A>G (p.Gln367Arg) rs148845802 0.00004
NM_001563.4(IMPG1):c.1982G>A (p.Arg661His) rs200128845 0.00003
NM_001563.4(IMPG1):c.773A>G (p.Tyr258Cys) rs774869075 0.00002
NM_001563.4(IMPG1):c.1000G>A (p.Glu334Lys) rs769205953 0.00001
NM_001563.4(IMPG1):c.214G>A (p.Ala72Thr) rs769499134 0.00001
NM_001563.4(IMPG1):c.347G>A (p.Arg116His) rs376461756 0.00001
NM_001563.4(IMPG1):c.586C>T (p.Pro196Ser) rs767983922 0.00001
NM_001563.4(IMPG1):c.1002A>C (p.Glu334Asp)
NM_001563.4(IMPG1):c.1016C>A (p.Thr339Asn) rs112474181
NM_001563.4(IMPG1):c.1212+1G>T
NM_001563.4(IMPG1):c.1461T>C (p.Ser487=)
NM_001563.4(IMPG1):c.1520G>A (p.Arg507Gln)
NM_001563.4(IMPG1):c.1606C>A (p.Leu536Ile)
NM_001563.4(IMPG1):c.1824+1G>T
NM_001563.4(IMPG1):c.1854A>C (p.Thr618=)
NM_001563.4(IMPG1):c.1855G>C (p.Gly619Arg)
NM_001563.4(IMPG1):c.1863G>A (p.Lys621=)
NM_001563.4(IMPG1):c.1868T>G (p.Leu623Arg)
NM_001563.4(IMPG1):c.1938G>A (p.Pro646=) rs201013836
NM_001563.4(IMPG1):c.2022C>G (p.Ser674Arg)
NM_001563.4(IMPG1):c.2083G>A (p.Glu695Lys)
NM_001563.4(IMPG1):c.2163C>T (p.Ser721=)
NM_001563.4(IMPG1):c.232G>T (p.Val78Phe)
NM_001563.4(IMPG1):c.235A>C (p.Lys79Gln)
NM_001563.4(IMPG1):c.307C>T (p.Gln103Ter)
NM_001563.4(IMPG1):c.413T>G (p.Phe138Cys)
NM_001563.4(IMPG1):c.455A>T (p.Asp152Val)
NM_001563.4(IMPG1):c.497G>A (p.Arg166Lys)
NM_001563.4(IMPG1):c.534G>T (p.Glu178Asp)
NM_001563.4(IMPG1):c.767C>G (p.Ser256Cys) rs760175948
NM_001563.4(IMPG1):c.832C>T (p.Pro278Ser)
NM_001563.4(IMPG1):c.888-4_889dup rs757929762
NM_001563.4(IMPG1):c.956C>T (p.Ala319Val)

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