C5935612[trait identifier] AND "OMIM"[submitter] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3220942	NM_177531.6(PKHD1L1):c.385G>A (p.Gly129Ser)	PKHD1L1	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 124	GPathogenic
Select item 3220946	NM_177531.6(PKHD1L1):c.1813G>A (p.Gly605Arg)	PKHD1L1	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 124	GPathogenic
Select item 3220943	NM_177531.6(PKHD1L1):c.3941G>T (p.Gly1314Val)	PKHD1L1	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 124	GPathogenic
Select item 3220945	NM_177531.6(PKHD1L1):c.7437C>A (p.His2479Gln)	PKHD1L1	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 124	GPathogenic
Select item 3220947	NM_177531.6(PKHD1L1):c.8452_8468del (p.Leu2818fs)	PKHD1L1 (L2818fs)	Deletion (frameshift variant)	Autosomal recessive nonsyndromic hearing loss 124	GPathogenic
Select item 3220944	NM_177531.6(PKHD1L1):c.10141C>T (p.Arg3381Ter)	PKHD1L1	Single nucleotide variant (nonsense)	Autosomal recessive nonsyndromic hearing loss 124	GPathogenic

ClinVar