ClinVar Miner

List of variants in gene IGSF1 reported as uncertain significance for Inborn genetic diseases

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Gene type:
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Total variants: 71
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HGVS dbSNP gnomAD frequency
NM_001555.5(IGSF1):c.1284C>A (p.Ser428Arg) rs201861108 0.00006
NM_001555.5(IGSF1):c.3947C>T (p.Thr1316Ile) rs141597908 0.00005
NM_001555.5(IGSF1):c.3935G>A (p.Gly1312Glu) rs753343235 0.00003
NM_001555.5(IGSF1):c.421C>A (p.Pro141Thr) rs1181812278 0.00003
NM_001555.5(IGSF1):c.1496G>A (p.Ser499Asn) rs1159295558 0.00002
NM_001555.5(IGSF1):c.1779G>T (p.Glu593Asp) rs766142659 0.00002
NM_001555.5(IGSF1):c.188G>A (p.Arg63Gln) rs768875327 0.00002
NM_001555.5(IGSF1):c.1907C>T (p.Pro636Leu) rs1489517476 0.00002
NM_001555.5(IGSF1):c.1998G>A (p.Met666Ile) rs1435353920 0.00002
NM_001555.5(IGSF1):c.2233G>A (p.Glu745Lys) rs778830663 0.00002
NM_001555.5(IGSF1):c.2381G>A (p.Arg794Gln) rs1298201857 0.00002
NM_001555.5(IGSF1):c.2485G>C (p.Ala829Pro) rs747906302 0.00002
NM_001555.5(IGSF1):c.3217C>T (p.Pro1073Ser) rs368781680 0.00002
NM_001555.5(IGSF1):c.1773G>C (p.Lys591Asn) rs778342386 0.00001
NM_001555.5(IGSF1):c.1925G>A (p.Arg642Gln) rs1452430983 0.00001
NM_001555.5(IGSF1):c.2220G>A (p.Met740Ile) rs758261526 0.00001
NM_001555.5(IGSF1):c.2558A>G (p.Asp853Gly) rs755298160 0.00001
NM_001555.5(IGSF1):c.2899A>G (p.Thr967Ala) rs2522194852 0.00001
NM_001555.5(IGSF1):c.3129C>G (p.Asp1043Glu) rs1182855463 0.00001
NM_001555.5(IGSF1):c.994G>A (p.Val332Met) rs771164082 0.00001
NM_001555.5(IGSF1):c.1033G>A (p.Gly345Arg)
NM_001555.5(IGSF1):c.1033G>C (p.Gly345Arg)
NM_001555.5(IGSF1):c.1060C>T (p.Leu354Phe) rs2522259056
NM_001555.5(IGSF1):c.1162G>C (p.Gly388Arg)
NM_001555.5(IGSF1):c.1241T>C (p.Val414Ala)
NM_001555.5(IGSF1):c.1252C>T (p.Pro418Ser)
NM_001555.5(IGSF1):c.1390T>C (p.Ser464Pro)
NM_001555.5(IGSF1):c.1460G>A (p.Arg487His)
NM_001555.5(IGSF1):c.1508A>G (p.Lys503Arg)
NM_001555.5(IGSF1):c.1708C>T (p.Leu570Phe) rs2522231074
NM_001555.5(IGSF1):c.1760T>C (p.Met587Thr)
NM_001555.5(IGSF1):c.1945G>T (p.Ala649Ser)
NM_001555.5(IGSF1):c.2083C>T (p.Arg695Trp)
NM_001555.5(IGSF1):c.2171A>G (p.Gln724Arg)
NM_001555.5(IGSF1):c.2209A>G (p.Ile737Val)
NM_001555.5(IGSF1):c.2223G>T (p.Glu741Asp)
NM_001555.5(IGSF1):c.2276T>C (p.Phe759Ser)
NM_001555.5(IGSF1):c.22G>A (p.Glu8Lys)
NM_001555.5(IGSF1):c.2407C>A (p.His803Asn) rs1302357666
NM_001555.5(IGSF1):c.2407C>T (p.His803Tyr)
NM_001555.5(IGSF1):c.241C>T (p.Arg81Cys)
NM_001555.5(IGSF1):c.2431T>C (p.Tyr811His)
NM_001555.5(IGSF1):c.2599G>A (p.Val867Met)
NM_001555.5(IGSF1):c.2610A>T (p.Glu870Asp) rs2522199206
NM_001555.5(IGSF1):c.2897A>G (p.Asp966Gly) rs2522194875
NM_001555.5(IGSF1):c.2948T>C (p.Met983Thr) rs1569401438
NM_001555.5(IGSF1):c.2995G>A (p.Gly999Arg) rs2080464606
NM_001555.5(IGSF1):c.3147G>C (p.Lys1049Asn)
NM_001555.5(IGSF1):c.331G>A (p.Glu111Lys) rs2522283751
NM_001555.5(IGSF1):c.3374G>C (p.Arg1125Thr) rs2522188216
NM_001555.5(IGSF1):c.3377G>T (p.Gly1126Val)
NM_001555.5(IGSF1):c.3459G>T (p.Glu1153Asp)
NM_001555.5(IGSF1):c.3599A>C (p.Glu1200Ala)
NM_001555.5(IGSF1):c.3662T>C (p.Ile1221Thr) rs1064796725
NM_001555.5(IGSF1):c.3754C>T (p.Pro1252Ser)
NM_001555.5(IGSF1):c.3856T>C (p.Trp1286Arg)
NM_001555.5(IGSF1):c.3892G>A (p.Gly1298Arg)
NM_001555.5(IGSF1):c.3905C>T (p.Thr1302Ile)
NM_001555.5(IGSF1):c.3919G>A (p.Glu1307Lys)
NM_001555.5(IGSF1):c.3994C>A (p.Leu1332Met)
NM_001555.5(IGSF1):c.404_482delinsTCAGGCTGAGACCCCCGCTCTTCCTGGGTGTAATGTTAACATCCTCTGC (p.Trp135_Phe161delinsPheArgLeuArgProProLeuPheLeuGlyValMetLeuThrSerSerAla) rs2124131728
NM_001555.5(IGSF1):c.430C>T (p.Pro144Ser) rs2522279765
NM_001555.5(IGSF1):c.484A>C (p.Met162Leu) rs778853861
NM_001555.5(IGSF1):c.661G>A (p.Val221Ile) rs2522276984
NM_001555.5(IGSF1):c.676C>G (p.Pro226Ala)
NM_001555.5(IGSF1):c.67A>G (p.Ile23Val)
NM_001555.5(IGSF1):c.740G>T (p.Arg247Met)
NM_001555.5(IGSF1):c.752C>T (p.Pro251Leu) rs1255713666
NM_001555.5(IGSF1):c.80T>G (p.Leu27Arg) rs1249022422
NM_001555.5(IGSF1):c.919C>T (p.Leu307Phe)
NM_001555.5(IGSF1):c.973C>G (p.Leu325Val) rs892393996

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