ClinVar Miner

List of variants reported as likely pathogenic for aortic valve stenosis by Fulgent Genetics, Fulgent Genetics

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.1149C>A (p.Tyr383Ter)	rs199621188
NM_000501.4(ELN):c.166del (p.Leu56fs)	rs2131266202
NM_000501.4(ELN):c.800-1G>A	rs2131847938

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