ClinVar Miner

List of variants in gene PJVK reported as benign by GeneDx

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Gene type:
ClinVar version:
Total variants: 18
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HGVS dbSNP gnomAD frequency
NM_001042702.5(PJVK):c.550-120C>T rs2288322 0.36757
NM_001042702.5(PJVK):c.407+137G>A rs6753709 0.28876
NM_001042702.5(PJVK):c.874G>A (p.Gly292Arg) rs79399438 0.02714
NM_001042702.5(PJVK):c.408-235C>T rs7605560 0.01884
NM_001042702.5(PJVK):c.668-80G>T rs111741352 0.01747
NM_001042702.5(PJVK):c.766+31T>C rs79039603 0.01457
NM_001042702.5(PJVK):c.766+8T>C rs185220846 0.00078
NM_001042702.5(PJVK):c.*2A>C rs200811582 0.00061
NM_001042702.5(PJVK):c.778A>G (p.Met260Val) rs201237972 0.00034
NM_001042702.5(PJVK):c.767-134C>A rs540368224 0.00008
NM_001042702.5(PJVK):c.549+172del rs80082011
NM_001042702.5(PJVK):c.550-282del rs34944666
NM_001042702.5(PJVK):c.767-110del rs748779811
NM_001042702.5(PJVK):c.767-110dup rs748779811
NM_001042702.5(PJVK):c.767-111_767-110dup rs748779811
NM_001042702.5(PJVK):c.767-119_767-110del rs748779811
NM_001042702.5(PJVK):c.793C>G (p.Arg265Gly) rs17304212
NM_001042702.5(PJVK):c.793C>T (p.Arg265Cys) rs17304212

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