List of variants in gene WHRN reported as likely pathogenic for autosomal recessive disease

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

Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_015404.4(WHRN):c.1943C>A (p.Ser648Tyr)	rs142653982	0.00098
NM_015404.4(WHRN):c.2140C>T (p.Gln714Ter)
NM_015404.4(WHRN):c.2388_2389del (p.Asn796fs)	rs1564113368
NM_015404.4(WHRN):c.2644C>A (p.Arg882Ser)	rs150586098
NM_015404.4(WHRN):c.375del (p.Ala126fs)	rs751838091

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