ClinVar Miner

List of variants in gene SMAD4 reported as likely pathogenic by GeneDx

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Gene type:
ClinVar version:
Total variants: 4
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HGVS dbSNP
NM_005359.5(SMAD4):c.10_11delAT (p.Met4Valfs) rs1064796471
NM_005359.5(SMAD4):c.1495T>C (p.Cys499Arg) rs1060500738
NM_005359.5(SMAD4):c.1549_1550delAG (p.Ser517Hisfs) rs377767373
NM_005359.5(SMAD4):c.250-2A>G rs1555685142

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