ClinVar Miner

List of variants in gene FGD1 studied for X-linked disease

Included ClinVar conditions (275):
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Total variants: 52
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HGVS dbSNP gnomAD frequency
NM_004463.3(FGD1):c.659+27T>C rs2239809 0.10870
NM_004463.3(FGD1):c.395G>A (p.Arg132Gln) rs145644275 0.00117
NM_004463.3(FGD1):c.935C>T (p.Pro312Leu) rs28935498 0.00034
NM_004463.3(FGD1):c.2314G>A (p.Val772Ile) rs373950992 0.00005
NM_004463.3(FGD1):c.1223G>A (p.Arg408Gln) rs137853265 0.00001
NM_004463.3(FGD1):c.598C>T (p.Pro200Ser) rs773941303 0.00001
NG_008054.1:g.(35701_?)_(?_50820)del
NM_004463.3(FGD1):c.1035GGA[3] (p.Glu350del) rs757595052
NM_004463.3(FGD1):c.1143_1145del (p.Leu382del) rs1601954686
NM_004463.3(FGD1):c.1197C>A (p.Phe399Leu)
NM_004463.3(FGD1):c.1241C>T (p.Pro414Leu) rs1557189455
NM_004463.3(FGD1):c.1328G>A (p.Arg443His) rs137853266
NM_004463.3(FGD1):c.1328G>T (p.Arg443Leu) rs137853266
NM_004463.3(FGD1):c.1336G>T (p.Glu446Ter) rs2147434002
NM_004463.3(FGD1):c.1345C>T (p.Arg449Cys)
NM_004463.3(FGD1):c.1392dup (p.Lys465fs)
NM_004463.3(FGD1):c.1396A>G (p.Met466Val) rs137853267
NM_004463.3(FGD1):c.1409A>G (p.Tyr470Cys)
NM_004463.3(FGD1):c.1422del (p.Phe474fs) rs2147432826
NM_004463.3(FGD1):c.1432G>A (p.Val478Met)
NM_004463.3(FGD1):c.1445_1447dup (p.Asn482dup) rs1557189266
NM_004463.3(FGD1):c.1452G>A (p.Trp484Ter) rs1601953661
NM_004463.3(FGD1):c.1500G>A (p.Lys500=)
NM_004463.3(FGD1):c.1556G>A (p.Arg519His) rs398124157
NM_004463.3(FGD1):c.1565G>A (p.Arg522His) rs137853264
NM_004463.3(FGD1):c.1590T>A (p.Tyr530Ter) rs1601953552
NM_004463.3(FGD1):c.1695+1G>A rs1922506770
NM_004463.3(FGD1):c.1700G>A (p.Arg567Gln)
NM_004463.3(FGD1):c.1733T>C (p.Leu578Ser) rs1557188567
NM_004463.3(FGD1):c.1811A>G (p.Asn604Ser) rs1601950673
NM_004463.3(FGD1):c.1829G>A (p.Arg610Gln) rs28935497
NM_004463.3(FGD1):c.1843-1G>A rs1601950553
NM_004463.3(FGD1):c.1966C>T (p.Arg656Ter) rs387906718
NM_004463.3(FGD1):c.1966_1976del (p.Arg656fs)
NM_004463.3(FGD1):c.2006T>G (p.Leu669Arg) rs1557188473
NM_004463.3(FGD1):c.2017A>G (p.Thr673Ala) rs1922347865
NM_004463.3(FGD1):c.2154G>A (p.Val718=)
NM_004463.3(FGD1):c.2192del (p.Lys731fs)
NM_004463.3(FGD1):c.2282G>A (p.Cys761Tyr) rs2147422996
NM_004463.3(FGD1):c.2380G>A (p.Gly794Arg)
NM_004463.3(FGD1):c.277dup (p.Tyr93fs) rs1557191567
NM_004463.3(FGD1):c.367del (p.Ser122_Leu123insTer) rs2147436223
NM_004463.3(FGD1):c.386G>A (p.Gly129Asp) rs910374883
NM_004463.3(FGD1):c.437A>G (p.Gln146Arg) rs1029761293
NM_004463.3(FGD1):c.486C>A (p.Pro162=)
NM_004463.3(FGD1):c.492G>T (p.Lys164Asn) rs2147435731
NM_004463.3(FGD1):c.527del (p.Pro176fs) rs756586058
NM_004463.3(FGD1):c.527dup (p.Leu177fs) rs756586058
NM_004463.3(FGD1):c.545del (p.Pro182fs) rs1922869724
NM_004463.3(FGD1):c.679del (p.Ser227fs) rs1922859149
NM_004463.3(FGD1):c.892dup (p.Cys298fs) rs1557189608
NM_004463.3(FGD1):c.944dup (p.Ala316fs) rs1569541255

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