ClinVar Miner

List of variants reported as uncertain significance for aortic disease by Invitae

Included ClinVar conditions (32):
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ClinVar version:
Total variants: 67
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HGVS dbSNP
NM_000192.3(TBX5):c.1064G>A (p.Arg355His) rs145784562
NM_000192.3(TBX5):c.1084C>G (p.Gln362Glu) rs765204502
NM_000192.3(TBX5):c.1115C>T (p.Ser372Leu) rs143068551
NM_000192.3(TBX5):c.1162G>A (p.Glu388Lys) rs139371720
NM_000192.3(TBX5):c.1208G>A (p.Ser403Asn)
NM_000192.3(TBX5):c.1242C>A (p.Thr414=)
NM_000192.3(TBX5):c.1289T>C (p.Phe430Ser) rs1396124456
NM_000192.3(TBX5):c.322C>T (p.Pro108Ser) rs376621016
NM_000192.3(TBX5):c.510+5G>A rs1555226301
NM_000192.3(TBX5):c.54C>A (p.Asp18Glu) rs1479545982
NM_000192.3(TBX5):c.557T>G (p.Val186Gly) rs1555226019
NM_000192.3(TBX5):c.755G>T (p.Ser252Ile) rs863223776
NM_000192.3(TBX5):c.902C>G (p.Ser301Cys)
NM_000501.4(ELN):c.1138G>A (p.Ala380Thr) rs973649598
NM_000501.4(ELN):c.1178_1201del (p.Gly393_Gly400del) rs781838239
NM_000501.4(ELN):c.1264G>C (p.Gly422Arg)
NM_000501.4(ELN):c.133+6G>A rs1216357938
NM_000501.4(ELN):c.1358-185G>A rs782737850
NM_000501.4(ELN):c.1358-192C>T rs185060213
NM_000501.4(ELN):c.1358-199G>A
NM_000501.4(ELN):c.1358-209C>T
NM_000501.4(ELN):c.1358-234G>C
NM_000501.4(ELN):c.164C>T (p.Ala55Val)
NM_000501.4(ELN):c.1675G>A (p.Val559Ile) rs560081099
NM_000501.4(ELN):c.1702G>A (p.Val568Ile) rs1554683612
NM_000501.4(ELN):c.1781A>T (p.Lys594Ile) rs782679448
NM_000501.4(ELN):c.18G>A (p.Ala6=)
NM_000501.4(ELN):c.1946G>C (p.Gly649Ala) rs200041224
NM_000501.4(ELN):c.1956_1970del (p.648_652GGLGV[1]) rs782015142
NM_000501.4(ELN):c.1993+4A>G rs781872334
NM_000501.4(ELN):c.202G>A (p.Gly68Arg) rs372566075
NM_000501.4(ELN):c.326G>A (p.Gly109Asp) rs145519139
NM_000501.4(ELN):c.34G>A (p.Gly12Arg) rs149127344
NM_000501.4(ELN):c.647G>T (p.Gly216Val) rs145612009
NM_000501.4(ELN):c.683A>G (p.Tyr228Cys)
NM_000501.4(ELN):c.767C>T (p.Ala256Val)
NM_000501.4(ELN):c.913G>A (p.Ala305Thr) rs1060503513
NM_005585.5(SMAD6):c.1000G>C (p.Val334Leu)
NM_005585.5(SMAD6):c.106G>A (p.Asp36Asn) rs773308777
NM_005585.5(SMAD6):c.1075G>C (p.Asp359His)
NM_005585.5(SMAD6):c.1184A>G (p.Lys395Arg) rs149949971
NM_005585.5(SMAD6):c.1225C>T (p.Pro409Ser)
NM_005585.5(SMAD6):c.1255G>A (p.Ala419Thr)
NM_005585.5(SMAD6):c.1256C>T (p.Ala419Val)
NM_005585.5(SMAD6):c.1271C>T (p.Ala424Val)
NM_005585.5(SMAD6):c.1297G>A (p.Gly433Ser)
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.413C>T (p.Pro138Leu)
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.683G>A (p.Arg228His)
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.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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