ClinVar Miner

List of variants in gene SMAD3 reported as likely pathogenic by GeneDx

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Total variants: 20
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HGVS dbSNP gnomAD frequency
NM_005902.4(SMAD3):c.277C>T (p.Arg93Ter) rs768713596 0.00001
NM_005902.4(SMAD3):c.821T>C (p.Leu274Pro) rs863223741 0.00001
NM_005902.4(SMAD3):c.1010-1G>C rs2140323368
NM_005902.4(SMAD3):c.1086_1098dup (p.Thr367fs) rs1555414236
NM_005902.4(SMAD3):c.110_115del (p.Ser37_Val39delinsIle) rs863223769
NM_005902.4(SMAD3):c.1222G>C (p.Asp408His) rs201263330
NM_005902.4(SMAD3):c.1268G>A (p.Ser423Asn) rs1555414503
NM_005902.4(SMAD3):c.275_281delinsC (p.Trp92_Trp94delinsSer) rs863223756
NM_005902.4(SMAD3):c.346AAG[1] (p.Lys117del) rs2140294164
NM_005902.4(SMAD3):c.387_388del (p.Arg129fs) rs863223757
NM_005902.4(SMAD3):c.545dup (p.Gly183fs) rs1291288543
NM_005902.4(SMAD3):c.54del (p.Gly17_Trp18insTer) rs1064794789
NM_005902.4(SMAD3):c.715G>A (p.Glu239Lys) rs387906853
NM_005902.4(SMAD3):c.733G>A (p.Gly245Arg) rs863223737
NM_005902.4(SMAD3):c.754C>T (p.Gln252Ter) rs1566999458
NM_005902.4(SMAD3):c.763_764insCAGTCATGGATGGCTGCGAGGCGTGGAATGTCTCCCCGACGCGCAGCCATCCA (p.Met255fs) rs1595956573
NM_005902.4(SMAD3):c.772G>C (p.Asp258His) rs863223738
NM_005902.4(SMAD3):c.802C>T (p.Arg268Cys) rs794727798
NM_005902.4(SMAD3):c.803G>A (p.Arg268His) rs863223740
NM_005902.4(SMAD3):c.942del (p.Phe314fs) rs863223768

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