ClinVar Miner

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

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 65
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_020433.5(JPH2):c.1289-7C>T rs116986535 0.02048
NM_020433.5(JPH2):c.1513G>A (p.Gly505Ser) rs140740776 0.01021
NM_020433.5(JPH2):c.661T>C (p.Phe221Leu) rs558770240 0.00596
NM_020433.5(JPH2):c.562C>T (p.Pro188Ser) rs574746149 0.00214
NM_020433.5(JPH2):c.1794C>A (p.Ser598=) rs369883442 0.00196
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 0.00128
NM_020433.5(JPH2):c.1971G>A (p.Glu657=) rs142333841 0.00099
NM_020433.5(JPH2):c.1424G>A (p.Arg475His) rs765754956 0.00079
NM_020433.5(JPH2):c.128A>G (p.Asn43Ser) rs138992849 0.00068
NM_020433.5(JPH2):c.2010+11C>T rs201615229 0.00051
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.1704C>T (p.Ser568=) rs200892606 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.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.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.1169+10C>T rs372219237 0.00009
NM_020433.5(JPH2):c.702G>A (p.Glu234=) rs539149173 0.00008
NM_020433.5(JPH2):c.819C>A (p.Ala273=) rs753387666 0.00007
NM_020433.5(JPH2):c.1395G>A (p.Pro465=) rs890379843 0.00004
NM_020433.5(JPH2):c.1476G>T (p.Pro492=) rs892497789 0.00004
NM_020433.5(JPH2):c.1170-11T>C rs376052338 0.00003
NM_020433.5(JPH2):c.1890A>G (p.Lys630=) rs764093410 0.00003
NM_020433.5(JPH2):c.2011-15C>T rs755656916 0.00003
NM_020433.5(JPH2):c.243C>T (p.Leu81=) rs760086204 0.00003
NM_020433.5(JPH2):c.327C>A (p.Thr109=) rs1245114185 0.00003
NM_020433.5(JPH2):c.379+20C>T rs551866698 0.00003
NM_020433.5(JPH2):c.1722G>A (p.Thr574=) rs769828263 0.00002
NM_020433.5(JPH2):c.1851G>A (p.Glu617=) rs759468707 0.00002
NM_020433.5(JPH2):c.30T>C (p.Asp10=) rs749155813 0.00002
NM_020433.5(JPH2):c.547C>G (p.Pro183Ala) rs938498462 0.00002
NM_020433.5(JPH2):c.820G>A (p.Asp274Asn) rs376694047 0.00002
NM_020433.5(JPH2):c.*14+15C>T rs1057524316 0.00001
NM_020433.5(JPH2):c.1161C>T (p.Ala387=) rs368697672 0.00001
NM_020433.5(JPH2):c.1431C>T (p.Thr477=) rs1057524121 0.00001
NM_020433.5(JPH2):c.1662G>A (p.Pro554=) rs748323930 0.00001
NM_020433.5(JPH2):c.1729G>A (p.Glu577Lys) rs181096982 0.00001
NM_020433.5(JPH2):c.1758G>A (p.Glu586=) rs753383507 0.00001
NM_020433.5(JPH2):c.1803C>T (p.Thr601=) rs1060503799 0.00001
NM_020433.5(JPH2):c.363G>A (p.Glu121=) rs753073876 0.00001
NM_020433.5(JPH2):c.379+17G>A rs765611071 0.00001
NM_020433.5(JPH2):c.471G>A (p.Ser157=) rs1228982207 0.00001
NM_020433.5(JPH2):c.72T>C (p.His24=) rs754405775 0.00001
NM_020433.5(JPH2):c.1137C>T (p.Ile379=) rs143158930
NM_020433.5(JPH2):c.1161C>A (p.Ala387=) rs368697672
NM_020433.5(JPH2):c.1169+16G>C rs375515254
NM_020433.5(JPH2):c.1169+18G>C rs761686789
NM_020433.5(JPH2):c.1169+8A>G rs1172047219
NM_020433.5(JPH2):c.1251T>G (p.Thr417=) rs1336473590
NM_020433.5(JPH2):c.1410G>T (p.Pro470=) rs751126526
NM_020433.5(JPH2):c.1635C>T (p.Ile545=) rs964166503
NM_020433.5(JPH2):c.1689C>T (p.Tyr563=) rs757000497
NM_020433.5(JPH2):c.1992G>A (p.Ala664=) rs781384540
NM_020433.5(JPH2):c.379+4796G>A rs528421697
NM_020433.5(JPH2):c.380-18C>T rs559155501
NM_020433.5(JPH2):c.624C>G (p.Ala208=) rs398124358
NM_020433.5(JPH2):c.624C>T (p.Ala208=) rs398124358
NM_020433.5(JPH2):c.717G>A (p.Val239=) rs1555858753

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.