ClinVar Miner

List of variants reported as likely pathogenic for aortic valve stenosis by Victorian Clinical Genetics Services, Murdoch Childrens Research Institute

Included ClinVar conditions (7):

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_000501.4(ELN):c.1069_1091del (p.Ala357fs)	rs2485893388
NM_000501.4(ELN):c.133+1G>T	rs2484783425
NM_000501.4(ELN):c.2T>A (p.Met1Lys)

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