ClinVar Miner

List of variants in gene SMAD6 studied for congenital anomaly of the great arteries

Included ClinVar conditions (40):
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Gene type:
ClinVar version:
Total variants: 44
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HGVS dbSNP
NM_005585.5(SMAD6):c.1000G>C (p.Val334Leu)
NM_005585.5(SMAD6):c.1004C>A (p.Ala335Glu) rs900988907
NM_005585.5(SMAD6):c.106G>A (p.Asp36Asn) rs773308777
NM_005585.5(SMAD6):c.1075G>C (p.Asp359His)
NM_005585.5(SMAD6):c.1168_1173dup (p.Gly390_Ile391dup)
NM_005585.5(SMAD6):c.1184A>G (p.Lys395Arg) rs149949971
NM_005585.5(SMAD6):c.1225C>T (p.Pro409Ser)
NM_005585.5(SMAD6):c.1244C>T (p.Pro415Leu) rs387907284
NM_005585.5(SMAD6):c.1255G>A (p.Ala419Thr)
NM_005585.5(SMAD6):c.1256C>T (p.Ala419Val)
NM_005585.5(SMAD6):c.1260C>T (p.Pro420=) rs371930288
NM_005585.5(SMAD6):c.1271C>T (p.Ala424Val)
NM_005585.5(SMAD6):c.1297G>A (p.Gly433Ser)
NM_005585.5(SMAD6):c.1451G>T (p.Cys484Phe) rs387907283
NM_005585.5(SMAD6):c.170_171delinsTT (p.Arg57Leu)
NM_005585.5(SMAD6):c.171C>G (p.Arg57=) rs753456441
NM_005585.5(SMAD6):c.277A>T (p.Met93Leu)
NM_005585.5(SMAD6):c.279G>A (p.Met93Ile)
NM_005585.5(SMAD6):c.292G>T (p.Ala98Ser)
NM_005585.5(SMAD6):c.318_320delinsAGG (p.Asp106_Val107delinsGluGly) rs1060500751
NM_005585.5(SMAD6):c.35G>A (p.Arg12Gln) rs946785791
NM_005585.5(SMAD6):c.399C>T (p.Asp133=) rs760472203
NM_005585.5(SMAD6):c.413C>T (p.Pro138Leu)
NM_005585.5(SMAD6):c.42G>A (p.Trp14Ter) rs1246889300
NM_005585.5(SMAD6):c.43C>G (p.Arg15Gly)
NM_005585.5(SMAD6):c.458_464CGGGCGG[1] (p.Gly156fs)
NM_005585.5(SMAD6):c.458_464CGGGCGG[3] (p.Ser158fs) rs958818801
NM_005585.5(SMAD6):c.482C>T (p.Ala161Val) rs748622672
NM_005585.5(SMAD6):c.531C>G (p.Tyr177Ter)
NM_005585.5(SMAD6):c.594C>T (p.Arg198=) rs565225133
NM_005585.5(SMAD6):c.611G>C (p.Gly204Ala) rs768542939
NM_005585.5(SMAD6):c.683G>A (p.Arg228His)
NM_005585.5(SMAD6):c.691C>G (p.Arg231Gly) rs1395007983
NM_005585.5(SMAD6):c.692G>C (p.Arg231Pro) rs1419095990
NM_005585.5(SMAD6):c.752_754CCG[5] (p.Ala254dup)
NM_005585.5(SMAD6):c.75C>T (p.Gly25=) rs755856670
NM_005585.5(SMAD6):c.770C>T (p.Pro257Leu) rs1567092020
NM_005585.5(SMAD6):c.780C>T (p.Cys260=) rs754314545
NM_005585.5(SMAD6):c.794del (p.His265fs) rs1567092071
NM_005585.5(SMAD6):c.79_84del (p.Ser27_Gly28del) rs769605183
NM_005585.5(SMAD6):c.82G>A (p.Gly28Ser)
NM_005585.5(SMAD6):c.92_100del (p.Gly31_Gly33del) rs750149627
NM_005585.5(SMAD6):c.973G>A (p.Ala325Thr) rs199822239
NM_005585.5(SMAD6):c.998G>C (p.Ser333Thr) rs199531653

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