ClinVar Miner

List of variants reported as likely pathogenic for aortic valve disease by Invitae

Included ClinVar conditions (20):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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HGVS dbSNP
NM_000192.3(TBX5):c.363-2A>G rs1565941072
NM_000501.4(ELN):c.1150+1G>A rs727503030
NM_000501.4(ELN):c.2T>C (p.Met1Thr) rs863223518
NM_000501.4(ELN):c.470-37_470del rs1563793627
NM_000501.4(ELN):c.686-1G>A

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