ClinVar Miner

List of variants in gene TFAP2B studied for congenital anomaly of the great arteries

Included ClinVar conditions (40):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 104
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HGVS dbSNP
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.218C>G (p.Pro73Arg) rs80338910
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.435_438CCGG[1] (p.Pro147fs) rs879253871
NM_003221.4(TFAP2B):c.444C>A (p.Asp148Glu) rs13216733
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.541-2A>T rs879253870
NM_003221.4(TFAP2B):c.601+5G>A rs80338911
NM_003221.4(TFAP2B):c.650del (p.Gly217fs) rs1561964103
NM_003221.4(TFAP2B):c.670G>A (p.Val224Ile) rs141129222
NM_003221.4(TFAP2B):c.706C>A (p.Arg236Ser) rs80338912
NM_003221.4(TFAP2B):c.706C>T (p.Arg236Cys) rs80338912
NM_003221.4(TFAP2B):c.772T>G (p.Ser258Ala) rs2817394
NM_003221.4(TFAP2B):c.822-1G>C rs80338916
NM_003221.4(TFAP2B):c.824C>A (p.Ala275Asp) rs80338914
NM_003221.4(TFAP2B):c.854G>A (p.Arg285Gln) rs80338915
NM_003221.4(TFAP2B):c.898C>T (p.Arg300Cys) rs80338917
NM_003221.4(TFAP2B):c.917C>T (p.Thr306Met) rs1232197674
NM_003221.4(TFAP2B):c.997G>T (p.Ala333Ser) rs140210899

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