ClinVar Miner

List of variants in gene JPH2 reported as benign

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Gene type:
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Total variants: 70
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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.379+36A>G rs6031442 0.86287
NM_020433.5(JPH2):c.-393C>A rs6031444 0.60982
NM_020433.5(JPH2):c.379+8538T>A rs2064381 0.56659
NM_020433.5(JPH2):c.1289-89A>C rs6073336 0.51040
NM_020433.5(JPH2):c.379+130T>C rs6031441 0.42054
NM_020433.5(JPH2):c.379+279C>A rs2092518 0.42042
NM_020433.5(JPH2):c.*14+269C>T rs2867794 0.40853
NM_020433.5(JPH2):c.2073T>C (p.Phe691=) rs6093935 0.33656
NM_020433.5(JPH2):c.*14+173A>G rs56170305 0.33284
NM_020433.5(JPH2):c.1728C>G (p.Pro576=) rs74352869 0.22485
NM_020433.5(JPH2):c.-401G>A rs41279278 0.20507
NM_020433.5(JPH2):c.1186G>A (p.Ala396Thr) rs3810510 0.19815
NM_020433.5(JPH2):c.379+8605C>G rs6130557 0.19687
NM_020433.5(JPH2):c.1169+123A>G rs55825903 0.12105
NM_020433.5(JPH2):c.2010+40C>G rs56061946 0.11470
NM_020433.4(JPH2):c.-974T>C rs17755091 0.09671
NM_020433.5(JPH2):c.*258G>A rs13043824 0.09303
NM_020433.5(JPH2):c.1179C>T (p.His393=) rs7268512 0.08526
NM_020433.5(JPH2):c.379+77C>T rs75804573 0.08287
NM_020433.5(JPH2):c.*15-115A>C rs116834259 0.02818
NM_020433.5(JPH2):c.379+8059T>C rs111784271 0.02185
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.562C>T (p.Pro188Ser) rs574746149 0.00214
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.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.565G>A (p.Ala189Thr) rs730880254 0.00099
NM_020433.5(JPH2):c.1424G>A (p.Arg475His) rs765754956 0.00079
NM_020433.5(JPH2):c.2010+11C>T rs201615229 0.00051
NM_020433.5(JPH2):c.2011-17C>T rs375414020 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.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.1731G>A (p.Glu577=) rs530433203 0.00032
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.1169+10C>T rs372219237 0.00009
NM_020433.5(JPH2):c.1974C>T (p.Ala658=) rs554320907 0.00004
NM_020433.5(JPH2):c.1170-11T>C rs376052338 0.00003
NM_020433.5(JPH2):c.379+20C>T rs551866698 0.00003
NM_020433.5(JPH2):c.1497C>A (p.Pro499=) rs1441785257 0.00002
NM_020433.5(JPH2):c.820G>A (p.Asp274Asn) rs376694047 0.00002
NM_020433.5(JPH2):c.1671G>A (p.Glu557=) rs754665306 0.00001
NM_020433.5(JPH2):c.810C>A (p.Ala270=) rs779680763 0.00001
GRCh37/hg19 20q13.12(chr20:42801971-42821839)x3
NM_020433.5(JPH2):c.*14+173AC[13] rs3037626
NM_020433.5(JPH2):c.*14+173AC[18] rs3037626
NM_020433.5(JPH2):c.*14+173AC[19] rs3037626
NM_020433.5(JPH2):c.*14+173AC[20] rs3037626
NM_020433.5(JPH2):c.*14+173AC[21] rs3037626
NM_020433.5(JPH2):c.*14+173AC[23] rs3037626
NM_020433.5(JPH2):c.-450G>C rs2235808
NM_020433.5(JPH2):c.1185_1186delinsAA (p.Ala396Thr) rs1060503798
NM_020433.5(JPH2):c.2010+146G>C rs6103631
NM_020433.5(JPH2):c.468C>G (p.Arg156=) rs553395930
NM_020433.5(JPH2):c.624C>G (p.Ala208=) rs398124358

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