ClinVar Miner

List of variants in gene FGD1 reported as pathogenic for X-linked disease

Included ClinVar conditions (275):
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Gene type:
ClinVar version:
Total variants: 22
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HGVS dbSNP gnomAD frequency
NM_004463.3(FGD1):c.935C>T (p.Pro312Leu) rs28935498 0.00034
NM_004463.3(FGD1):c.1223G>A (p.Arg408Gln) rs137853265 0.00001
NG_008054.1:g.(35701_?)_(?_50820)del
NM_004463.3(FGD1):c.1143_1145del (p.Leu382del) rs1601954686
NM_004463.3(FGD1):c.1328G>T (p.Arg443Leu) rs137853266
NM_004463.3(FGD1):c.1392dup (p.Lys465fs)
NM_004463.3(FGD1):c.1396A>G (p.Met466Val) rs137853267
NM_004463.3(FGD1):c.1422del (p.Phe474fs) rs2147432826
NM_004463.3(FGD1):c.1452G>A (p.Trp484Ter) rs1601953661
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.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.2192del (p.Lys731fs)
NM_004463.3(FGD1):c.367del (p.Ser122_Leu123insTer) rs2147436223
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.944dup (p.Ala316fs) rs1569541255

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