ClinVar Miner

List of variants in gene JPH2 reported as likely benign by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 73
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_020433.5(JPH2):c.380-105G>A rs12480648 0.02104
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 0.00865
NM_020433.5(JPH2):c.*14+175A>G rs398040671 0.00718
NM_020433.5(JPH2):c.1288+52C>T rs115546872 0.00677
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 0.00405
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.856A>G (p.Thr286Ala) rs144022614 0.00183
NM_020433.5(JPH2):c.637C>T (p.Arg213Trp) rs767328866 0.00145
NM_020433.5(JPH2):c.1289-36G>C rs184801349 0.00104
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.1410G>A (p.Pro470=) rs751126526 0.00035
NM_020433.5(JPH2):c.783G>C (p.Ala261=) rs201085317 0.00033
NM_020433.5(JPH2):c.1566G>A (p.Arg522=) rs559143345 0.00031
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.1185G>A (p.Lys395=) rs760586009 0.00011
NM_020433.5(JPH2):c.1581C>G (p.Ser527=) rs752533344 0.00011
NM_020433.5(JPH2):c.*3G>A rs200730588 0.00009
NM_020433.5(JPH2):c.702G>A (p.Glu234=) rs539149173 0.00008
NM_020433.5(JPH2):c.582C>T (p.Ala194=) rs565885872 0.00007
NM_020433.5(JPH2):c.819C>A (p.Ala273=) rs753387666 0.00007
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.1476G>T (p.Pro492=) rs892497789 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.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.30T>C (p.Asp10=) rs749155813 0.00002
NM_020433.5(JPH2):c.735T>C (p.Arg245=) rs569709682 0.00002
NM_020433.5(JPH2):c.*14+15C>T rs1057524316 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.379+17G>A rs765611071 0.00001
NM_020433.5(JPH2):c.45C>T (p.Cys15=) rs748073251 0.00001
NM_020433.5(JPH2):c.72T>C (p.His24=) rs754405775 0.00001
NM_020433.5(JPH2):c.810C>A (p.Ala270=) rs779680763 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.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+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.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.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.