ClinVar Miner

List of variants in gene FGD1, TSR2 studied for X-linked disease

Included ClinVar conditions (274):
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Gene type:
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Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_004463.3(FGD1):c.*36C>T rs2230265 0.07863
NM_004463.3(FGD1):c.2728C>T (p.Arg910Ter) rs1269514277 0.00005
NM_004463.3(FGD1):c.2501dup (p.Gly835fs)
NM_004463.3(FGD1):c.2514G>A (p.Trp838Ter)
NM_004463.3(FGD1):c.2561A>G (p.Tyr854Cys)
NM_004463.3(FGD1):c.2611A>G (p.Ile871Val)
NM_004463.3(FGD1):c.2612T>C (p.Ile871Thr) rs947732354
NM_004463.3(FGD1):c.2656A>T (p.Arg886Ter)
NM_004463.3(FGD1):c.2761C>T (p.Arg921Ter) rs869312743
NM_004463.3(FGD1):c.2803A>G (p.Arg935Gly)
NM_004463.3(FGD1):c.2873G>A (p.Arg958Gln)

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