ClinVar Miner

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

Included ClinVar conditions (275):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 9
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HGVS dbSNP gnomAD frequency
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.1336G>T (p.Glu446Ter) rs2147434002
NM_004463.3(FGD1):c.1556G>A (p.Arg519His) rs398124157
NM_004463.3(FGD1):c.1966_1976del (p.Arg656fs)
NM_004463.3(FGD1):c.2017A>G (p.Thr673Ala) rs1922347865
NM_004463.3(FGD1):c.277dup (p.Tyr93fs) rs1557191567
NM_004463.3(FGD1):c.527dup (p.Leu177fs) rs756586058
NM_004463.3(FGD1):c.892dup (p.Cys298fs) rs1557189608

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