ClinVar Miner

List of variants in gene SMAD4 reported as uncertain significance by Preventiongenetics, part of Exact Sciences

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Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_005359.6(SMAD4):c.20C>T (p.Thr7Met) rs372316981 0.00003
NM_005359.6(SMAD4):c.1106A>G (p.Asn369Ser) rs139569694 0.00002
NM_005359.6(SMAD4):c.470T>C (p.Met157Thr) rs756675590 0.00001
NM_005359.6(SMAD4):c.671A>T (p.Gln224Leu) rs587780793 0.00001
NM_005359.6(SMAD4):c.1066C>T (p.Pro356Ser)
NM_005359.6(SMAD4):c.106G>T (p.Ala36Ser)
NM_005359.6(SMAD4):c.155A>T (p.Asp52Val) rs1057524809
NM_005359.6(SMAD4):c.1595C>A (p.Ala532Asp) rs1568211604
NM_005359.6(SMAD4):c.455C>A (p.Ala152Asp) rs1568204964
NM_005359.6(SMAD4):c.487G>T (p.Val163Leu)
NM_005359.6(SMAD4):c.931C>G (p.Gln311Glu)

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