ClinVar Miner

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

Included ClinVar conditions (40):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 54
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HGVS dbSNP
NM_000192.3(TBX5):c.1281C>T (p.Ser427=) rs6489957
NM_000192.3(TBX5):c.1545C>T (p.Ser515=) rs186780790
NM_000192.3(TBX5):c.309C>T (p.Leu103=) rs28730763
NM_000192.3(TBX5):c.331G>T (p.Asp111Tyr) rs77357563
NM_000192.3(TBX5):c.787G>A (p.Val263Met) rs147405081
NM_000501.4(ELN):c.*1194A>G rs10233395
NM_000501.4(ELN):c.*501_*502insA rs34208922
NM_000501.4(ELN):c.*659G>C rs8326
NM_000501.4(ELN):c.1096+12TG[16] rs10579871
NM_000501.4(ELN):c.1264G>A (p.Gly422Ser) rs2071307
NM_000501.4(ELN):c.1269C>T (p.Val423=) rs61734583
NM_000501.4(ELN):c.1388A>G (p.Lys463Arg) rs34945509
NM_000501.4(ELN):c.1566T>A (p.Gly522=) rs61734584
NM_000501.4(ELN):c.1741G>C (p.Gly581Arg) rs17855988
NM_000501.4(ELN):c.1747+82C>A rs186744935
NM_000501.4(ELN):c.1828G>A (p.Gly610Ser) rs140425210
NM_000501.4(ELN):c.2086+5G>C rs111866046
NM_000501.4(ELN):c.212C>T (p.Ala71Val) rs41350445
NM_000501.4(ELN):c.249C>T (p.Pro83=) rs565001805
NM_000501.4(ELN):c.259T>C (p.Phe87Leu) rs140411170
NM_000501.4(ELN):c.427+8C>T rs55868272
NM_000501.4(ELN):c.493G>T (p.Val165Leu) rs61734581
NM_000501.4(ELN):c.892G>A (p.Val298Ile) rs41526244
NM_000501.4(ELN):c.921A>G (p.Ala307=) rs6979788
NM_000501.4(ELN):c.924A>T (p.Ala308=) rs539451717
NM_001278918.1(ELN):c.-38C>T rs41410045
NM_003221.3(TFAP2B):c.*4228G>T rs67092917
NM_003221.3(TFAP2B):c.-34G>A rs2272903
NM_003221.4(TFAP2B):c.*10A>T rs2857513
NM_003221.4(TFAP2B):c.*136T>A rs2982621
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.*1950C>G rs61236902
NM_003221.4(TFAP2B):c.*2227T>C rs2817420
NM_003221.4(TFAP2B):c.*2624T>C rs62405437
NM_003221.4(TFAP2B):c.*2797del rs398048525
NM_003221.4(TFAP2B):c.*334A>G rs78688767
NM_003221.4(TFAP2B):c.*3522C>A rs13195969
NM_003221.4(TFAP2B):c.*3772C>A rs66462826
NM_003221.4(TFAP2B):c.*4124T>C rs7769978
NM_003221.4(TFAP2B):c.*4209T>A rs62405438
NM_003221.4(TFAP2B):c.*912_*913CA[6] rs35649205
NM_003221.4(TFAP2B):c.444C>A (p.Asp148Glu) rs13216733
NM_003221.4(TFAP2B):c.540+14A>G rs552393576
NM_003221.4(TFAP2B):c.540+7ACAA[5] rs368226832
NM_003221.4(TFAP2B):c.772T>G (p.Ser258Ala) rs2817394
NM_017617.5(NOTCH1):c.1441+7C>T rs9411208
NM_017617.5(NOTCH1):c.1670-9A>G rs3124603
NM_017617.5(NOTCH1):c.2588-4G>A rs3125001
NM_017617.5(NOTCH1):c.6555C>T (p.Asp2185=) rs2229974
NM_017617.5(NOTCH1):c.852G>A (p.Pro284=) rs2229975

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