ClinVar Miner

List of variants in gene SMAD4 reported as likely pathogenic by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

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Gene type:
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Total variants: 7
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HGVS dbSNP gnomAD frequency
NC_000018.9:g.(48556994_48573289)_48573471dup
NM_005359.6(SMAD4):c.1271dup (p.Asp424fs) rs1555686616
NM_005359.6(SMAD4):c.1392del (p.Val465fs) rs1910480814
NM_005359.6(SMAD4):c.297G>A (p.Trp99Ter) rs876660079
NM_005359.6(SMAD4):c.502G>T (p.Gly168Ter) rs1909795990
NM_005359.6(SMAD4):c.787+2T>C rs1909895611
NM_005359.6(SMAD4):c.894del (p.Gly299fs) rs2144429392

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