ClinVar Miner

List of variants in gene JPH2 reported by Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

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Total variants: 30
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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.661T>C (p.Phe221Leu) rs558770240 0.00630
NM_020433.5(JPH2):c.380-9C>G rs111987307 0.00423
NM_020433.5(JPH2):c.1794C>A (p.Ser598=) rs369883442 0.00212
NM_020433.5(JPH2):c.380-6C>T rs201197277 0.00201
NM_020433.5(JPH2):c.856A>G (p.Thr286Ala) rs144022614 0.00183
NM_020433.5(JPH2):c.637C>T (p.Arg213Trp) rs767328866 0.00145
NM_020433.5(JPH2):c.642G>A (p.Ala214=) rs587780956 0.00145
NM_020433.5(JPH2):c.1971G>A (p.Glu657=) rs142333841 0.00099
NM_020433.5(JPH2):c.572C>G (p.Pro191Arg) rs554853074 0.00048
NM_020433.5(JPH2):c.1204G>A (p.Glu402Lys) rs147407445 0.00038
NM_020433.5(JPH2):c.780C>T (p.Ala260=) rs199840543 0.00034
NM_020433.5(JPH2):c.1107T>C (p.Ser369=) rs148311735 0.00033
NM_020433.5(JPH2):c.1852A>G (p.Thr618Ala) rs376612687 0.00017
NM_020433.5(JPH2):c.1169+10C>T rs372219237 0.00009
NM_020433.5(JPH2):c.1894G>A (p.Glu632Lys) rs200149713 0.00005
NM_020433.5(JPH2):c.1640C>T (p.Ala547Val) rs772283505 0.00003
NM_020433.5(JPH2):c.1951A>G (p.Lys651Glu) rs778410296 0.00002
NM_020433.5(JPH2):c.363G>A (p.Glu121=) rs753073876 0.00001
NM_020433.5(JPH2):c.1655C>T (p.Pro552Leu) rs876657833
NM_020433.5(JPH2):c.376G>A (p.Gly126Arg) rs876657834
NM_020433.5(JPH2):c.497T>G (p.Leu166Arg) rs876657835
NM_020433.5(JPH2):c.511_516dup (p.Ser171_Asn172dup) rs864309612
NM_020433.5(JPH2):c.624C>G (p.Ala208=) rs398124358

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