ClinVar Miner

List of variants in gene SMAD4 reported as likely pathogenic by Ambry Genetics

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Gene type:
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Total variants: 7
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NM_005359.6(SMAD4):c.1088G>A (p.Cys363Tyr) rs876660556
NM_005359.6(SMAD4):c.1308+1G>T rs587781618
NM_005359.6(SMAD4):c.1349_1376dup (p.Ala460fs) rs876660720
NM_005359.6(SMAD4):c.1495T>C (p.Cys499Arg) rs1060500738
NM_005359.6(SMAD4):c.250-1G>C rs1555685149
NM_005359.6(SMAD4):c.905-1G>A rs1555686070
NM_005359.6(SMAD4):c.989A>G (p.Glu330Gly) rs281875324

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