ClinVar Miner

List of variants in gene JPH2 reported as benign by Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center

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Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_020433.5(JPH2):c.156C>T (p.Tyr52=) rs1883790 0.86681
NM_020433.5(JPH2):c.2073T>C (p.Phe691=) rs6093935 0.33656
NM_020433.5(JPH2):c.1728C>G (p.Pro576=) rs74352869 0.22485
NM_020433.5(JPH2):c.1186G>A (p.Ala396Thr) rs3810510 0.19815
NM_020433.5(JPH2):c.1179C>T (p.His393=) rs7268512 0.08526
NM_020433.5(JPH2):c.1289-7C>T rs116986535 0.02105
NM_020433.5(JPH2):c.1513G>A (p.Gly505Ser) rs140740776 0.01003
NM_020433.5(JPH2):c.380-6C>T rs201197277 0.00201
NM_020433.5(JPH2):c.1424G>A (p.Arg475His) rs765754956 0.00079
NM_020433.5(JPH2):c.783G>C (p.Ala261=) rs201085317 0.00034

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