ClinVar Miner

List of variants reported as likely benign for congenital anomaly of the great arteries

Included ClinVar conditions (43):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 84
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HGVS dbSNP
NM_000192.3(TBX5):c.579A>G (p.Gly193=) rs967802452
NM_000501.4(ELN):c.*1195C>T rs115872030
NM_000501.4(ELN):c.*172G>A rs56120764
NM_000501.4(ELN):c.*238C>T rs546341976
NM_000501.4(ELN):c.*383T>G rs184490734
NM_000501.4(ELN):c.*429C>T rs62476387
NM_000501.4(ELN):c.*548G>A rs117454480
NM_000501.4(ELN):c.*562A>C rs539096901
NM_000501.4(ELN):c.*636G>A rs533779578
NM_000501.4(ELN):c.*95C>T rs181078432
NM_000501.4(ELN):c.1089G>A (p.Ala363=) rs782204123
NM_000501.4(ELN):c.1232T>G (p.Val411Gly) rs200180992
NM_000501.4(ELN):c.1269C>G (p.Val423=) rs61734583
NM_000501.4(ELN):c.1269C>T (p.Val423=) rs61734583
NM_000501.4(ELN):c.1271G>A (p.Gly424Glu) rs782725817
NM_000501.4(ELN):c.1317C>T (p.Pro439=) rs201861098
NM_000501.4(ELN):c.1338C>T (p.Ala446=) rs146576615
NM_000501.4(ELN):c.1431C>T (p.Val477=) rs782141278
NM_000501.4(ELN):c.1470T>C (p.Gly490=) rs576324025
NM_000501.4(ELN):c.1507G>A (p.Val503Met) rs41523046
NM_000501.4(ELN):c.1566T>A (p.Gly522=) rs61734584
NM_000501.4(ELN):c.159A>T (p.Gly53=) rs200810494
NM_000501.4(ELN):c.1622-13C>T rs41362346
NM_000501.4(ELN):c.1821G>C (p.Gly607=) rs144835575
NM_000501.4(ELN):c.1825C>T (p.Leu609Phe) rs200133966
NM_000501.4(ELN):c.1828G>A (p.Gly610Ser) rs140425210
NM_000501.4(ELN):c.1861G>A (p.Ala621Thr) rs150404125
NM_000501.4(ELN):c.1909G>A (p.Ala637Thr) rs536177240
NM_000501.4(ELN):c.1999C>T (p.Pro667Ser) rs142316834
NM_000501.4(ELN):c.2077C>T (p.Pro693Ser) rs369804770
NM_000501.4(ELN):c.2086+8del rs782078342
NM_000501.4(ELN):c.2109C>T (p.Phe703=) rs149755814
NM_000501.4(ELN):c.212C>T (p.Ala71Val) rs41350445
NM_000501.4(ELN):c.2132-6G>A rs781831349
NM_000501.4(ELN):c.2132G>A (p.Gly711Asp) rs41511151
NM_000501.4(ELN):c.259T>C (p.Phe87Leu) rs140411170
NM_000501.4(ELN):c.328G>A (p.Ala110Thr) rs137953195
NM_000501.4(ELN):c.366A>G (p.Gly122=) rs61734587
NM_000501.4(ELN):c.427+8C>T rs55868272
NM_000501.4(ELN):c.42C>T (p.Leu14=) rs1554660052
NM_000501.4(ELN):c.470-10C>G rs200663056
NM_000501.4(ELN):c.861G>A (p.Gly287=) rs368610108
NM_000501.4(ELN):c.886G>A (p.Ala296Thr) rs782335529
NM_000501.4(ELN):c.921A>G (p.Ala307=) rs6979788
NM_000501.4(ELN):c.931G>A (p.Ala311Thr) rs41376344
NM_001267550.2(TTN):c.25619C>T (p.Ser8540Phe) rs201523784
NM_003221.3(TFAP2B):c.-147C>T rs190729585
NM_003221.4(TFAP2B):c.*1248G>T rs537110904
NM_003221.4(TFAP2B):c.*1348G>A rs116006044
NM_003221.4(TFAP2B):c.*1380G>C rs573299110
NM_003221.4(TFAP2B):c.*1415G>C rs149779376
NM_003221.4(TFAP2B):c.*15_*17AAG[1] rs140328017
NM_003221.4(TFAP2B):c.*1678T>C rs551048493
NM_003221.4(TFAP2B):c.*1938dup rs568007912
NM_003221.4(TFAP2B):c.*1981T>A rs148498816
NM_003221.4(TFAP2B):c.*2223G>A rs145454089
NM_003221.4(TFAP2B):c.*2446C>G rs187079439
NM_003221.4(TFAP2B):c.*2499G>C rs560455179
NM_003221.4(TFAP2B):c.*2506C>T rs116177339
NM_003221.4(TFAP2B):c.*3074C>T rs147683287
NM_003221.4(TFAP2B):c.*3079C>T rs113794910
NM_003221.4(TFAP2B):c.*3397C>T rs144819786
NM_003221.4(TFAP2B):c.*3578A>G rs73737658
NM_003221.4(TFAP2B):c.*3716A>G rs140596624
NM_003221.4(TFAP2B):c.*4081A>T rs113582178
NM_003221.4(TFAP2B):c.*4111A>T rs115188421
NM_003221.4(TFAP2B):c.*4213_*4214GT[1] rs373428030
NM_003221.4(TFAP2B):c.*631A>G rs113608318
NM_003221.4(TFAP2B):c.*822A>T rs567202499
NM_003221.4(TFAP2B):c.*927T>C rs538834828
NM_003221.4(TFAP2B):c.1006G>A (p.Val336Ile) rs139339332
NM_003221.4(TFAP2B):c.1131G>A (p.Pro377=) rs140849621
NM_003221.4(TFAP2B):c.1159C>T (p.Leu387=) rs112599056
NM_003221.4(TFAP2B):c.1304A>C (p.Asn435Thr) rs115226995
NM_003221.4(TFAP2B):c.252C>T (p.Asp84=) rs75279409
NM_003221.4(TFAP2B):c.670G>A (p.Val224Ile) rs141129222
NM_003221.4(TFAP2B):c.997G>T (p.Ala333Ser) rs140210899
NM_005343.4(HRAS):c.277A>G (p.Ile93Val) rs587782949
NM_017617.5(NOTCH1):c.1555+10A>G rs11145767
NM_017617.5(NOTCH1):c.2265T>C (p.Asn755=) rs2229971
NM_017617.5(NOTCH1):c.2734C>T (p.Arg912Trp) rs201620358
NM_017617.5(NOTCH1):c.312T>C (p.Asn104=) rs4489420
NM_017617.5(NOTCH1):c.3294C>T (p.Ser1098=) rs61751546
NM_017617.5(NOTCH1):c.5094C>T (p.Asp1698=) rs10521

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