List of variants in gene PJVK reported as pathogenic for Autosomal recessive nonsyndromic hearing loss 59

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 18

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HGVS	dbSNP	gnomAD frequency
NM_001042702.5(PJVK):c.499C>T (p.Arg167Ter)	rs118203989	0.00010
NM_001042702.5(PJVK):c.671T>G (p.Leu224Arg)	rs370457498	0.00002
NM_001042702.5(PJVK):c.406C>T (p.Arg136Ter)	rs367688416	0.00001
NM_001042702.5(PJVK):c.547C>T (p.Arg183Trp)	rs111706634	0.00001
NM_001042702.5(PJVK):c.1028G>C (p.Cys343Ser)
NM_001042702.5(PJVK):c.113dup (p.Lys41fs)	rs1559365985
NM_001042702.5(PJVK):c.122del (p.Lys41fs)	rs1559366000
NM_001042702.5(PJVK):c.161C>T (p.Thr54Ile)	rs118203988
NM_001042702.5(PJVK):c.199_200del (p.Glu67fs)
NM_001042702.5(PJVK):c.226C>T (p.Gln76Ter)
NM_001042702.5(PJVK):c.274C>T (p.Arg92Ter)
NM_001042702.5(PJVK):c.408-2A>G
NM_001042702.5(PJVK):c.726del (p.Phe242fs)	rs1559371613
NM_001042702.5(PJVK):c.880C>G (p.His294Asp)	rs2154126353
NM_001042702.5(PJVK):c.880del (p.His294fs)	rs2154126352
NM_001042702.5(PJVK):c.905ACA[1] (p.Asn303del)	rs1559372512
NM_001042702.5(PJVK):c.950del (p.Phe317fs)	rs2154126361
NM_001042702.5(PJVK):c.988del (p.Val330fs)	rs1559372640

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