ClinVar Miner

List of variants in gene JPH2 reported as benign for Cardiovascular phenotype

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Total variants: 11
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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.1513G>A (p.Gly505Ser) rs140740776 0.01003
NM_020433.5(JPH2):c.661T>C (p.Phe221Leu) rs558770240 0.00630
NM_020433.5(JPH2):c.1794C>A (p.Ser598=) rs369883442 0.00212
NM_020433.5(JPH2):c.572C>G (p.Pro191Arg) rs554853074 0.00048
NM_020433.5(JPH2):c.780C>T (p.Ala260=) rs199840543 0.00034
NM_020433.5(JPH2):c.1185_1186delinsAA (p.Ala396Thr) rs1060503798

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