ClinVar Miner

List of variants studied for congenital anomaly of the great arteries by Illumina Clinical Services Laboratory,Illumina

Included ClinVar conditions (40):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 158
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HGVS dbSNP
NM_000501.4(ELN):c.*1062dup rs574934142
NM_000501.4(ELN):c.*1145dup rs886062436
NM_000501.4(ELN):c.*1194A>G rs10233395
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.*251C>T rs886062430
NM_000501.4(ELN):c.*383T>G rs184490734
NM_000501.4(ELN):c.*429C>T rs62476387
NM_000501.4(ELN):c.*458C>T rs886062431
NM_000501.4(ELN):c.*489G>T rs886062432
NM_000501.4(ELN):c.*501_*502insA rs34208922
NM_000501.4(ELN):c.*548G>A rs117454480
NM_000501.4(ELN):c.*562A>C rs539096901
NM_000501.4(ELN):c.*570G>A rs565400803
NM_000501.4(ELN):c.*629T>C rs776424755
NM_000501.4(ELN):c.*636G>A rs533779578
NM_000501.4(ELN):c.*659G>C rs8326
NM_000501.4(ELN):c.*663C>T rs886062433
NM_000501.4(ELN):c.*794C>T rs185988110
NM_000501.4(ELN):c.*95C>T rs181078432
NM_000501.4(ELN):c.*997G>T rs886062434
NM_000501.4(ELN):c.1096+12TG[16] rs10579871
NM_000501.4(ELN):c.1096+12TG[18] rs10579871
NM_000501.4(ELN):c.1096+12TG[20] rs10579871
NM_000501.4(ELN):c.1096+12TG[21] rs10579871
NM_000501.4(ELN):c.1096+12TG[22] rs10579871
NM_000501.4(ELN):c.1232T>G (p.Val411Gly) rs200180992
NM_000501.4(ELN):c.1234G>A (p.Gly412Arg) rs375116795
NM_000501.4(ELN):c.1264G>A (p.Gly422Ser) rs2071307
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.1281C>T (p.Pro427=) rs376496267
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.1339G>A (p.Ala447Thr) rs139335797
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.1622-13C>T rs41362346
NM_000501.4(ELN):c.163+13A>G rs782388951
NM_000501.4(ELN):c.1741G>C (p.Gly581Arg) rs17855988
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+5G>C rs111866046
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.2132G>A (p.Gly711Asp) rs41511151
NM_000501.4(ELN):c.259T>C (p.Phe87Leu) rs140411170
NM_000501.4(ELN):c.326G>A (p.Gly109Asp) rs145519139
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.470-10C>G rs200663056
NM_000501.4(ELN):c.659C>T (p.Pro220Leu) rs201012726
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.930C>T (p.Ala310=) rs147367888
NM_000501.4(ELN):c.931G>A (p.Ala311Thr) rs41376344
NM_001278918.1(ELN):c.-38C>T rs41410045
NM_001278918.1(ELN):c.-70G>C rs537200597
NM_003221.3(TFAP2B):c.*4228G>T rs67092917
NM_003221.3(TFAP2B):c.-106A>T rs749242065
NM_003221.3(TFAP2B):c.-147C>T rs190729585
NM_003221.3(TFAP2B):c.-34G>A rs2272903
NM_003221.3(TFAP2B):c.-83G>A rs886061563
NM_003221.4(TFAP2B):c.*10A>T rs2857513
NM_003221.4(TFAP2B):c.*1199A>G rs886061578
NM_003221.4(TFAP2B):c.*1223A>G rs886061579
NM_003221.4(TFAP2B):c.*1248G>T rs537110904
NM_003221.4(TFAP2B):c.*1348G>A rs116006044
NM_003221.4(TFAP2B):c.*135_*136del rs140657288
NM_003221.4(TFAP2B):c.*136T>A rs2982621
NM_003221.4(TFAP2B):c.*136T>G rs2982621
NM_003221.4(TFAP2B):c.*1380G>C rs573299110
NM_003221.4(TFAP2B):c.*1415G>C rs149779376
NM_003221.4(TFAP2B):c.*1427del rs886061580
NM_003221.4(TFAP2B):c.*15_*17AAG[1] rs140328017
NM_003221.4(TFAP2B):c.*1644del rs886061581
NM_003221.4(TFAP2B):c.*1678T>C rs551048493
NM_003221.4(TFAP2B):c.*1742T>C rs886061582
NM_003221.4(TFAP2B):c.*1765T>C rs886061583
NM_003221.4(TFAP2B):c.*178C>T rs2857514
NM_003221.4(TFAP2B):c.*1790A>G rs9296643
NM_003221.4(TFAP2B):c.*1801G>A rs2817419
NM_003221.4(TFAP2B):c.*1879T>C rs55653665
NM_003221.4(TFAP2B):c.*1925G>T rs73427175
NM_003221.4(TFAP2B):c.*1938dup rs568007912
NM_003221.4(TFAP2B):c.*1950C>G rs61236902
NM_003221.4(TFAP2B):c.*1981T>A rs148498816
NM_003221.4(TFAP2B):c.*2003A>G rs886061585
NM_003221.4(TFAP2B):c.*2200C>T rs886061586
NM_003221.4(TFAP2B):c.*2218T>A rs545250166
NM_003221.4(TFAP2B):c.*2223G>A rs145454089
NM_003221.4(TFAP2B):c.*2227T>C rs2817420
NM_003221.4(TFAP2B):c.*2446C>G rs187079439
NM_003221.4(TFAP2B):c.*2497C>G rs886061587
NM_003221.4(TFAP2B):c.*2499G>C rs560455179
NM_003221.4(TFAP2B):c.*2506C>T rs116177339
NM_003221.4(TFAP2B):c.*2624T>C rs62405437
NM_003221.4(TFAP2B):c.*2778T>C rs886061588
NM_003221.4(TFAP2B):c.*2797del rs398048525
NM_003221.4(TFAP2B):c.*3074C>T rs147683287
NM_003221.4(TFAP2B):c.*3078C>G rs886061589
NM_003221.4(TFAP2B):c.*3079C>T rs113794910
NM_003221.4(TFAP2B):c.*3096A>G rs886061590
NM_003221.4(TFAP2B):c.*334A>G rs78688767
NM_003221.4(TFAP2B):c.*3397C>T rs144819786
NM_003221.4(TFAP2B):c.*3522C>A rs13195969
NM_003221.4(TFAP2B):c.*3578A>G rs73737658
NM_003221.4(TFAP2B):c.*369C>T rs886061571
NM_003221.4(TFAP2B):c.*3716A>G rs140596624
NM_003221.4(TFAP2B):c.*3725C>A rs770622965
NM_003221.4(TFAP2B):c.*3772C>A rs66462826
NM_003221.4(TFAP2B):c.*3955G>C rs12374644
NM_003221.4(TFAP2B):c.*3995T>C rs201889632
NM_003221.4(TFAP2B):c.*4081A>T rs113582178
NM_003221.4(TFAP2B):c.*4111A>T rs115188421
NM_003221.4(TFAP2B):c.*4124T>C rs7769978
NM_003221.4(TFAP2B):c.*4165G>T rs534021085
NM_003221.4(TFAP2B):c.*4209T>A rs62405438
NM_003221.4(TFAP2B):c.*4213_*4214GT[1] rs373428030
NM_003221.4(TFAP2B):c.*477C>T rs762515397
NM_003221.4(TFAP2B):c.*60T>A rs886061569
NM_003221.4(TFAP2B):c.*631A>G rs113608318
NM_003221.4(TFAP2B):c.*822A>T rs567202499
NM_003221.4(TFAP2B):c.*910_*911del rs35732696
NM_003221.4(TFAP2B):c.*910_*911insC rs1554165384
NM_003221.4(TFAP2B):c.*911_*915del rs770818655
NM_003221.4(TFAP2B):c.*911del rs35732696
NM_003221.4(TFAP2B):c.*912_*913CA[5] rs35649205
NM_003221.4(TFAP2B):c.*912_*913CA[6] rs35649205
NM_003221.4(TFAP2B):c.*912_*913CA[8] rs35649205
NM_003221.4(TFAP2B):c.*912_*916del rs886061577
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.1235C>G (p.Ala412Gly) rs886061566
NM_003221.4(TFAP2B):c.1267G>C (p.Glu423Gln) rs886061567
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.360T>C (p.Ser120=) rs886061564
NM_003221.4(TFAP2B):c.406G>C (p.Asp136His) rs139904414
NM_003221.4(TFAP2B):c.48T>G (p.Leu16=) rs371608614
NM_003221.4(TFAP2B):c.522C>G (p.Pro174=) rs886061565
NM_003221.4(TFAP2B):c.540+14A>G rs552393576
NM_003221.4(TFAP2B):c.540+7ACAA[5] rs368226832
NM_003221.4(TFAP2B):c.540+7ACAA[7] rs368226832
NM_003221.4(TFAP2B):c.670G>A (p.Val224Ile) rs141129222
NM_003221.4(TFAP2B):c.997G>T (p.Ala333Ser) rs140210899

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