ClinVar Miner

List of variants in gene IVNS1ABP

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Gene type:
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Total variants: 39
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HGVS dbSNP gnomAD frequency
NM_006469.5(IVNS1ABP):c.896-7C>T rs117705891 0.00176
NM_006469.5(IVNS1ABP):c.1293T>C (p.Ser431=) rs139097733 0.00169
NM_006469.5(IVNS1ABP):c.240A>G (p.Pro80=) rs139483777 0.00168
NM_006469.5(IVNS1ABP):c.654A>T (p.Glu218Asp) rs35346683 0.00021
NM_006469.5(IVNS1ABP):c.1278C>G (p.His426Gln) rs139263536 0.00016
NM_006469.5(IVNS1ABP):c.1490C>T (p.Pro497Leu) rs201979152 0.00015
NM_006469.5(IVNS1ABP):c.217G>A (p.Val73Ile) rs146352011 0.00012
NM_006469.5(IVNS1ABP):c.282-7T>A rs760594952 0.00008
NM_006469.5(IVNS1ABP):c.199C>A (p.Pro67Thr) rs202151175 0.00005
NM_006469.5(IVNS1ABP):c.874G>A (p.Val292Ile) rs767158444 0.00004
NM_006469.5(IVNS1ABP):c.236A>G (p.Asn79Ser) rs780169380 0.00003
NM_006469.5(IVNS1ABP):c.1399A>G (p.Ile467Val) rs781116659 0.00002
NM_006469.5(IVNS1ABP):c.1423G>A (p.Gly475Ser) rs200137725 0.00002
NM_006469.5(IVNS1ABP):c.553A>C (p.Asn185His) rs767693160 0.00002
NM_006469.5(IVNS1ABP):c.1324G>T (p.Asp442Tyr) rs768138174 0.00001
NM_006469.5(IVNS1ABP):c.216C>T (p.His72=) rs374781357 0.00001
NC_000001.10:g.185276239_185287961del
NM_006469.5(IVNS1ABP):c.1072C>T (p.Arg358Ter) rs756921311
NM_006469.5(IVNS1ABP):c.1357C>T (p.Arg453Cys) rs1665536342
NM_006469.5(IVNS1ABP):c.1402G>A (p.Val468Ile)
NM_006469.5(IVNS1ABP):c.1586T>G (p.Val529Gly)
NM_006469.5(IVNS1ABP):c.1592G>A (p.Arg531Gln)
NM_006469.5(IVNS1ABP):c.1642G>T (p.Ala548Ser)
NM_006469.5(IVNS1ABP):c.1675G>C (p.Gly559Arg) rs1460740417
NM_006469.5(IVNS1ABP):c.1739A>C (p.Asp580Ala)
NM_006469.5(IVNS1ABP):c.1804G>T (p.Ala602Ser)
NM_006469.5(IVNS1ABP):c.1899G>A (p.Trp633Ter) rs1665467187
NM_006469.5(IVNS1ABP):c.1910C>T (p.Thr637Ile) rs750061329
NM_006469.5(IVNS1ABP):c.1910del (p.Thr637fs) rs1319848994
NM_006469.5(IVNS1ABP):c.282-7dup rs748447429
NM_006469.5(IVNS1ABP):c.379T>C (p.Ser127Pro) rs959035894
NM_006469.5(IVNS1ABP):c.504G>C (p.Glu168Asp)
NM_006469.5(IVNS1ABP):c.532-5T>A
NM_006469.5(IVNS1ABP):c.560G>C (p.Cys187Ser)
NM_006469.5(IVNS1ABP):c.605T>G (p.Val202Gly) rs1665757644
NM_006469.5(IVNS1ABP):c.610C>T (p.Arg204Cys) rs745491726
NM_006469.5(IVNS1ABP):c.842C>G (p.Thr281Arg)
NM_006469.5(IVNS1ABP):c.878C>T (p.Ala293Val)
NM_006469.5(IVNS1ABP):c.934T>C (p.Phe312Leu) rs375500212

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