ClinVar Miner

List of variants in gene PJVK reported as pathogenic for auditory system disease

Included ClinVar conditions (549):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 8
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HGVS dbSNP
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.499C>T (p.Arg167Ter) rs118203989
NM_001042702.5(PJVK):c.547C>T (p.Arg183Trp) rs111706634
NM_001042702.5(PJVK):c.726del (p.Phe242fs) rs1559371613
NM_001042702.5(PJVK):c.905ACA[1] (p.Asn303del) rs1559372512
NM_001042702.5(PJVK):c.988del (p.Val330fs) rs1559372640

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