ClinVar Miner

List of variants in gene SMAD4 reported as likely pathogenic for not provided

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Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_005359.6(SMAD4):c.1486C>T (p.Arg496Cys) rs397518413 0.00001
NM_005359.6(SMAD4):c.1059C>G (p.Tyr353Ter) rs863224400
NM_005359.6(SMAD4):c.10_11del (p.Met4fs) rs1064796471
NM_005359.6(SMAD4):c.1351_1375del (p.Ala451fs) rs587780124
NM_005359.6(SMAD4):c.1358C>T (p.Thr453Ile) rs786205514
NM_005359.6(SMAD4):c.1495T>C (p.Cys499Arg) rs1060500738
NM_005359.6(SMAD4):c.1514_1515del (p.Phe505fs) rs864622252
NM_005359.6(SMAD4):c.1529dup (p.Pro511fs)
NM_005359.6(SMAD4):c.1549_1550del (p.Ser517fs) rs377767373
NM_005359.6(SMAD4):c.250-2A>G rs1555685142

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