ClinVar Miner

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

Included ClinVar conditions (32):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 21
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NM_000192.3(TBX5):c.579A>G (p.Gly193=) rs967802452
NM_000501.4(ELN):c.1089G>A (p.Ala363=) rs782204123
NM_000501.4(ELN):c.1170A>G (p.Gly390=) rs1060504936
NM_000501.4(ELN):c.1269C>G (p.Val423=) rs61734583
NM_000501.4(ELN):c.134-4dup rs878854451
NM_000501.4(ELN):c.1358-253G>A rs370619098
NM_000501.4(ELN):c.1431C>T (p.Val477=) rs782141278
NM_000501.4(ELN):c.159A>T (p.Gly53=) rs200810494
NM_000501.4(ELN):c.1671C>T (p.Val557=) rs563533415
NM_000501.4(ELN):c.1767C>T (p.Ala589=) rs117816525
NM_000501.4(ELN):c.2086+8del rs782078342
NM_000501.4(ELN):c.2132-6G>A rs781831349
NM_000501.4(ELN):c.2132G>A (p.Gly711Asp) rs41511151
NM_000501.4(ELN):c.42C>T (p.Leu14=) rs1554660052
NM_000501.4(ELN):c.528G>A (p.Lys176=) rs782412839
NM_000501.4(ELN):c.861G>A (p.Gly287=) rs368610108
NM_000501.4(ELN):c.993G>A (p.Pro331=) rs371757750
NM_005585.5(SMAD6):c.1260C>T (p.Pro420=) rs371930288
NM_005585.5(SMAD6):c.399C>T (p.Asp133=) rs760472203
NM_005585.5(SMAD6):c.594C>T (p.Arg198=) rs565225133
NM_005585.5(SMAD6):c.780C>T (p.Cys260=) rs754314545

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