ClinVar Miner

List of variants reported as likely benign for aortic disease by Illumina Clinical Services Laboratory,Illumina

Included ClinVar conditions (58):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 29
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HGVS dbSNP
NM_000501.4(ELN):c.*429C>T rs62476387
NM_000501.4(ELN):c.1234G>A (p.Gly412Arg) rs375116795
NM_000501.4(ELN):c.1269C>G (p.Val423=) rs61734583
NM_000501.4(ELN):c.1317C>T (p.Pro439=) rs201861098
NM_000501.4(ELN):c.134-10C>G
NM_000501.4(ELN):c.1467C>T (p.Val489=)
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.1640G>A (p.Gly547Asp)
NM_000501.4(ELN):c.1674C>T (p.Gly558=)
NM_000501.4(ELN):c.1819G>C (p.Gly607Arg)
NM_000501.4(ELN):c.1828G>A (p.Gly610Ser) rs140425210
NM_000501.4(ELN):c.1994-7T>G rs375277198
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.2109C>T (p.Phe703=) rs149755814
NM_000501.4(ELN):c.2132-5T>A
NM_000501.4(ELN):c.2132G>A (p.Gly711Asp) rs41511151
NM_000501.4(ELN):c.232+3G>A rs377172364
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.460G>A (p.Val154Met) rs145669576
NM_000501.4(ELN):c.470-10C>G rs200663056
NM_000501.4(ELN):c.473C>T (p.Ala158Val) rs201137255
NM_000501.4(ELN):c.647G>T (p.Gly216Val) rs145612009

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