ClinVar Miner

List of variants reported as benign for aortic valve disease by Invitae

Included ClinVar conditions (21):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 41
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HGVS dbSNP
NM_000192.3(TBX5):c.114C>T (p.Ser38=) rs34014008
NM_000192.3(TBX5):c.1234G>A (p.Val412Ile) rs114124210
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.316A>G (p.Ile106Val) rs147710408
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.1269C>T (p.Val423=) rs61734583
NM_000501.4(ELN):c.1279C>G (p.Pro427Ala) rs144341345
NM_000501.4(ELN):c.1338C>T (p.Ala446=) rs146576615
NM_000501.4(ELN):c.1358-268A>G
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.1747+82C>A rs186744935
NM_000501.4(ELN):c.1747+83C>T
NM_000501.4(ELN):c.1821G>C (p.Gly607=) rs144835575
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.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.278C>T (p.Pro93Leu)
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_000501.4(ELN):c.931G>A (p.Ala311Thr) rs41376344
NM_005585.5(SMAD6):c.1167C>T (p.Phe389=) rs12591946
NM_005585.5(SMAD6):c.120C>A (p.Gly40=) rs149612008
NM_005585.5(SMAD6):c.120C>T (p.Gly40=) rs149612008
NM_005585.5(SMAD6):c.1359C>T (p.Asp453=) rs368834798
NM_005585.5(SMAD6):c.139C>T (p.Pro47Ser) rs368960350
NM_005585.5(SMAD6):c.362G>A (p.Cys121Tyr) rs80232004
NM_005585.5(SMAD6):c.447C>T (p.Ala149=) rs181184476
NM_005585.5(SMAD6):c.61G>A (p.Asp21Asn) rs188799901
NM_005585.5(SMAD6):c.711C>T (p.His237=) rs144415105
NM_005585.5(SMAD6):c.817+9G>C rs200726236
NM_005585.5(SMAD6):c.909G>A (p.Thr303=) rs139719094

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