ClinVar Miner

List of variants in gene FGD1 reported by Ambry Genetics

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Total variants: 56
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HGVS dbSNP gnomAD frequency
NM_004463.3(FGD1):c.2091T>C (p.Thr697=) rs12011120 0.17397
NM_004463.3(FGD1):c.2136A>G (p.Pro712=) rs1126744 0.14669
NM_004463.3(FGD1):c.-4G>C rs147035080 0.04998
NM_004463.3(FGD1):c.110C>T (p.Ala37Val) rs75659311 0.00373
NM_004463.3(FGD1):c.676G>A (p.Ala226Thr) rs138723423 0.00259
NM_004463.3(FGD1):c.2268C>T (p.Cys756=) rs61734178 0.00217
NM_004463.3(FGD1):c.1617G>A (p.Pro539=) rs151184308 0.00216
NM_004463.3(FGD1):c.395G>A (p.Arg132Gln) rs145644275 0.00117
NM_004463.3(FGD1):c.1464C>T (p.Ser488=) rs143205647 0.00069
NM_004463.3(FGD1):c.622T>C (p.Ser208Pro) rs148139633 0.00061
NM_004463.3(FGD1):c.234C>T (p.Pro78=) rs140165404 0.00036
NM_004463.3(FGD1):c.2043C>T (p.Val681=) rs144902747 0.00035
NM_004463.3(FGD1):c.935C>T (p.Pro312Leu) rs28935498 0.00034
NM_004463.3(FGD1):c.1563C>T (p.Pro521=) rs201996522 0.00021
NM_004463.3(FGD1):c.2289G>A (p.Lys763=) rs150865566 0.00018
NM_004463.3(FGD1):c.501C>T (p.Tyr167=) rs781319873 0.00018
NM_004463.3(FGD1):c.27C>T (p.Gly9=) rs377441190 0.00017
NM_004463.3(FGD1):c.62A>T (p.Asn21Ile) rs779475596 0.00017
NM_004463.3(FGD1):c.1192-4A>G rs765231632 0.00009
NM_004463.3(FGD1):c.119C>T (p.Pro40Leu) rs765178830 0.00006
NM_004463.3(FGD1):c.2047-5C>A rs368646447 0.00005
NM_004463.3(FGD1):c.1102-4C>A rs777463718 0.00004
NM_004463.3(FGD1):c.2436G>A (p.Glu812=) rs1196056313 0.00001
NM_004463.3(FGD1):c.68C>G (p.Pro23Arg) rs1358236718 0.00001
NM_004463.3(FGD1):c.1072C>T (p.Pro358Ser)
NM_004463.3(FGD1):c.1076del (p.Leu359fs)
NM_004463.3(FGD1):c.131C>T (p.Ala44Val)
NM_004463.3(FGD1):c.1328G>A (p.Arg443His) rs137853266
NM_004463.3(FGD1):c.1549G>A (p.Val517Met) rs1557189253
NM_004463.3(FGD1):c.1555C>T (p.Arg519Cys) rs1557189252
NM_004463.3(FGD1):c.1556G>A (p.Arg519His) rs398124157
NM_004463.3(FGD1):c.1564C>A (p.Arg522Ser) rs398124159
NM_004463.3(FGD1):c.156T>C (p.Leu52=)
NM_004463.3(FGD1):c.1572G>T (p.Glu524Asp) rs1922738632
NM_004463.3(FGD1):c.1636+1G>A rs1569541211
NM_004463.3(FGD1):c.1906C>T (p.Arg636Trp)
NM_004463.3(FGD1):c.1978G>A (p.Val660Met) rs1557188474
NM_004463.3(FGD1):c.2015+1G>A
NM_004463.3(FGD1):c.2020GAG[2] (p.Glu676del)
NM_004463.3(FGD1):c.2132C>T (p.Thr711Ile)
NM_004463.3(FGD1):c.222C>A (p.His74Gln)
NM_004463.3(FGD1):c.238G>A (p.Gly80Ser)
NM_004463.3(FGD1):c.26dup (p.Ala10fs) rs1557191602
NM_004463.3(FGD1):c.400C>T (p.Arg134Cys)
NM_004463.3(FGD1):c.415C>T (p.Pro139Ser) rs1569541278
NM_004463.3(FGD1):c.451C>G (p.Leu151Val)
NM_004463.3(FGD1):c.45C>G (p.Pro15=)
NM_004463.3(FGD1):c.527C>T (p.Pro176Leu)
NM_004463.3(FGD1):c.527del (p.Pro176fs) rs756586058
NM_004463.3(FGD1):c.630A>G (p.Ala210=)
NM_004463.3(FGD1):c.710del (p.Gly237fs)
NM_004463.3(FGD1):c.842G>A (p.Arg281Gln)
NM_004463.3(FGD1):c.956G>A (p.Ser319Asn)
NM_004463.3(FGD1):c.977A>C (p.Asp326Ala)
NM_004463.3(FGD1):c.977A>G (p.Asp326Gly)
NM_004463.3(FGD1):c.997C>T (p.Gln333Ter) rs1557189592

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