ClinVar Miner

List of variants in gene PJVK studied for Autosomal recessive nonsyndromic hearing loss 59

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Total variants: 66
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HGVS dbSNP gnomAD frequency
NM_001042702.5(PJVK):c.874G>A (p.Gly292Arg) rs79399438 0.02648
NM_001042702.5(PJVK):c.-45T>A rs74435413 0.00950
NM_001042702.5(PJVK):c.-303G>A rs114119504 0.00949
NM_001042702.5(PJVK):c.-263G>A rs116368316 0.00948
NM_001042702.5(PJVK):c.-84C>T rs183157169 0.00330
NM_001042702.5(PJVK):c.250T>A (p.Ser84Thr) rs200507933 0.00124
NM_001042702.5(PJVK):c.86A>G (p.Asp29Gly) rs200502817 0.00104
NM_001042702.5(PJVK):c.766+8T>C rs185220846 0.00078
NM_001042702.5(PJVK):c.-73C>T rs573551830 0.00077
NM_001042702.5(PJVK):c.-234C>T rs555344314 0.00067
NM_001042702.5(PJVK):c.*2A>C rs200811582 0.00042
NM_001042702.5(PJVK):c.-22-6T>A rs144704250 0.00026
NM_001042702.5(PJVK):c.298G>A (p.Val100Ile) rs200516108 0.00018
NM_001042702.5(PJVK):c.-201C>G rs796484753 0.00016
NM_001042702.5(PJVK):c.794G>A (p.Arg265His) rs199841343 0.00016
NM_001042702.5(PJVK):c.-112G>T rs886055208 0.00013
NM_001042702.5(PJVK):c.499C>T (p.Arg167Ter) rs118203989 0.00010
NM_001042702.5(PJVK):c.405A>C (p.Thr135=) rs373800401 0.00009
NM_001042702.5(PJVK):c.946A>C (p.Asn316His) rs776028922 0.00008
NM_001042702.5(PJVK):c.*20G>A rs200368104 0.00005
NM_001042702.5(PJVK):c.-82C>T rs886055209 0.00005
NM_001042702.5(PJVK):c.216T>C (p.Ile72=) rs200686247 0.00005
NM_001042702.5(PJVK):c.-64C>T rs886055210 0.00004
NM_001042702.5(PJVK):c.297C>T (p.Asp99=) rs375853744 0.00004
NM_001042702.5(PJVK):c.437G>A (p.Arg146His) rs369805509 0.00004
NM_001042702.5(PJVK):c.-124G>A rs886055207 0.00003
NM_001042702.5(PJVK):c.212-12C>A rs199967536 0.00003
NM_001042702.5(PJVK):c.671T>G (p.Leu224Arg) rs370457498 0.00002
NM_001042702.5(PJVK):c.-232A>G rs1351130857 0.00001
NM_001042702.5(PJVK):c.-283C>G rs886055206 0.00001
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.548G>A (p.Arg183Gln) rs760036509 0.00001
NM_001042702.5(PJVK):c.778A>G (p.Met260Val) rs201237972 0.00001
NM_001042702.5(PJVK):c.-49G>T rs886055211
NM_001042702.5(PJVK):c.1017T>G (p.His339Gln)
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.124C>T (p.Arg42Ter)
NM_001042702.5(PJVK):c.156T>G (p.Thr52=)
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.240T>A (p.Tyr80Ter)
NM_001042702.5(PJVK):c.274C>T (p.Arg92Ter)
NM_001042702.5(PJVK):c.370G>A (p.Val124Met)
NM_001042702.5(PJVK):c.408-2A>G
NM_001042702.5(PJVK):c.420del (p.Phe140fs)
NM_001042702.5(PJVK):c.450C>T (p.Ser150=) rs1684057503
NM_001042702.5(PJVK):c.490C>T (p.Arg164Ter)
NM_001042702.5(PJVK):c.505T>A (p.Cys169Ser)
NM_001042702.5(PJVK):c.525T>G (p.Ala175=) rs1684063153
NM_001042702.5(PJVK):c.726del (p.Phe242fs) rs1559371613
NM_001042702.5(PJVK):c.753C>A (p.Ile251=) rs886055212
NM_001042702.5(PJVK):c.772del (p.Arg258fs)
NM_001042702.5(PJVK):c.793C>G (p.Arg265Gly) rs17304212
NM_001042702.5(PJVK):c.793C>T (p.Arg265Cys) rs17304212
NM_001042702.5(PJVK):c.823dup (p.Ser275fs)
NM_001042702.5(PJVK):c.880C>A (p.His294Asn) rs2154126353
NM_001042702.5(PJVK):c.880C>G (p.His294Asp) rs2154126353
NM_001042702.5(PJVK):c.880del (p.His294fs) rs2154126352
NM_001042702.5(PJVK):c.887G>C (p.Arg296Pro) rs532114292
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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