ClinVar Miner

List of variants reported as likely pathogenic for autosomal recessive nonsyndromic hearing loss 2 by Genomics England Pilot Project, Genomics England

Included ClinVar conditions (3):

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_000260.4(MYO7A):c.3886del (p.Arg1296fs)	rs2135563245
NM_000260.4(MYO7A):c.4951G>A (p.Gly1651Ser)	rs1201586094
NM_000260.4(MYO7A):c.721C>T (p.Arg241Cys)	rs782166819

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