ClinVar Miner

List of variants in gene JPH2 reported as likely benign for not provided

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Total variants: 64
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HGVS dbSNP gnomAD frequency
NM_020433.5(JPH2):c.1289-7C>T rs116986535 0.02105
NM_020433.5(JPH2):c.380-105G>A rs12480648 0.01885
NM_020433.5(JPH2):c.2010+245G>A rs7267668 0.01363
NM_020433.5(JPH2):c.2010+89G>A rs117011960 0.01070
NM_020433.5(JPH2):c.379+8052T>C rs74325346 0.01003
NM_020433.5(JPH2):c.2011-100C>G rs111521448 0.00905
NM_020433.5(JPH2):c.1288+52C>T rs115546872 0.00750
NM_020433.5(JPH2):c.*14+175A>G rs398040671 0.00718
NM_020433.5(JPH2):c.*14+124C>T rs115154926 0.00527
NM_020433.5(JPH2):c.380-141T>C rs7360117 0.00513
NM_020433.5(JPH2):c.379+8507A>C rs192094794 0.00439
NM_020433.5(JPH2):c.380-9C>G rs111987307 0.00423
NM_020433.5(JPH2):c.*14+259C>T rs565720270 0.00344
NM_020433.5(JPH2):c.562C>T (p.Pro188Ser) rs574746149 0.00214
NM_020433.5(JPH2):c.1794C>A (p.Ser598=) rs369883442 0.00212
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.1289-36G>C rs184801349 0.00090
NM_020433.5(JPH2):c.1424G>A (p.Arg475His) rs765754956 0.00079
NM_020433.5(JPH2):c.128A>G (p.Asn43Ser) rs138992849 0.00072
NM_020433.5(JPH2):c.572C>G (p.Pro191Arg) rs554853074 0.00048
NM_020433.5(JPH2):c.1137C>A (p.Ile379=) rs143158930 0.00046
NM_020433.5(JPH2):c.1380G>A (p.Ala460=) rs531877510 0.00044
NM_020433.5(JPH2):c.1204G>A (p.Glu402Lys) rs147407445 0.00038
NM_020433.5(JPH2):c.1410G>A (p.Pro470=) rs751126526 0.00036
NM_020433.5(JPH2):c.780C>T (p.Ala260=) rs199840543 0.00034
NM_020433.5(JPH2):c.783G>C (p.Ala261=) rs201085317 0.00034
NM_020433.5(JPH2):c.1107T>C (p.Ser369=) rs148311735 0.00033
NM_020433.5(JPH2):c.1566G>A (p.Arg522=) rs559143345 0.00031
NM_020433.5(JPH2):c.648G>A (p.Lys216=) rs796219248 0.00029
NM_020433.5(JPH2):c.1233G>A (p.Glu411=) rs143061111 0.00026
NM_020433.5(JPH2):c.379+12T>G rs763058686 0.00023
NM_020433.5(JPH2):c.483G>A (p.Thr161=) rs746384802 0.00023
NM_020433.5(JPH2):c.1852A>G (p.Thr618Ala) rs376612687 0.00017
NM_020433.5(JPH2):c.1581C>G (p.Ser527=) rs752533344 0.00011
NM_020433.5(JPH2):c.735T>C (p.Arg245=) rs569709682 0.00011
NM_020433.5(JPH2):c.*3G>A rs200730588 0.00009
NM_020433.5(JPH2):c.1169+10C>T rs372219237 0.00009
NM_020433.5(JPH2):c.582C>T (p.Ala194=) rs565885872 0.00007
NM_020433.5(JPH2):c.1185G>A (p.Lys395=) rs760586009 0.00006
NM_020433.5(JPH2):c.1771G>A (p.Gly591Arg) rs751914931 0.00006
NM_020433.5(JPH2):c.861C>T (p.Thr287=) rs565508885 0.00006
NM_020433.5(JPH2):c.1348C>T (p.Leu450=) rs932394965 0.00004
NM_020433.5(JPH2):c.1974C>T (p.Ala658=) rs554320907 0.00004
NM_020433.5(JPH2):c.531G>A (p.Pro177=) rs1057522198 0.00004
NM_020433.5(JPH2):c.576G>A (p.Ser192=) rs1397018944 0.00004
NM_020433.5(JPH2):c.1170-11T>C rs376052338 0.00003
NM_020433.5(JPH2):c.1497C>A (p.Pro499=) rs1441785257 0.00002
NM_020433.5(JPH2):c.1851G>A (p.Glu617=) rs759468707 0.00002
NM_020433.5(JPH2):c.820G>A (p.Asp274Asn) rs376694047 0.00002
NM_020433.5(JPH2):c.1289-9C>T rs936894679 0.00001
NM_020433.5(JPH2):c.1293G>A (p.Pro431=) rs2072193158 0.00001
NM_020433.5(JPH2):c.1671G>A (p.Glu557=) rs754665306 0.00001
NM_020433.5(JPH2):c.45C>T (p.Cys15=) rs748073251 0.00001
NM_020433.5(JPH2):c.810C>A (p.Ala270=) rs779680763 0.00001
NM_020433.5(JPH2):c.837C>T (p.Phe279=) rs773521151 0.00001
NM_020433.5(JPH2):c.978T>C (p.Tyr326=) rs777461348 0.00001
NM_020433.5(JPH2):c.*14+169GC[3] rs1555853088
NM_020433.5(JPH2):c.*14+169GC[4] rs1555853088
NM_020433.5(JPH2):c.1169+248del rs199566074
NM_020433.5(JPH2):c.1170-278A>C rs183116678
NM_020433.5(JPH2):c.1289-34G>T rs116625075
NM_020433.5(JPH2):c.624C>G (p.Ala208=) rs398124358

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