"OMIM"[submitter] AND "WHRN"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 208207	NM_015404.4(WHRN):c.2423del (p.Gly808fs)	WHRN (G808fs +3 more)	Deletion (frameshift variant)	Autosomal recessive nonsyndromic hearing loss 31	GPathogenic
Select item 2689	NM_015404.4(WHRN):c.2332C>T (p.Arg778Ter)	WHRN (R778* +3 more)	Single nucleotide variant (nonsense)	Usher syndrome +1 more	GPathogenic
Select item 2691	NM_015404.4(WHRN):c.837+1G>A	WHRN	Single nucleotide variant (splice donor variant)	Usher syndrome type 2D	GPathogenic
Select item 31704	NM_015404.4(WHRN):c.737del (p.Pro246fs)	WHRN (P246fs)	Deletion (5 prime UTR variant +1 more)	not provided	GPathogenic
Select item 31705	NM_015404.4(WHRN):c.680dup (p.Tyr228fs)	WHRN (Y228fs)	Duplication (5 prime UTR variant +1 more)	not provided	GPathogenic
Select item 2690	NM_015404.4(WHRN):c.307C>T (p.Gln103Ter)	WHRN (Q103*)	Single nucleotide variant (nonsense)	Usher syndrome type 2D	GPathogenic

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