ClinVar Miner

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

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 136
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HGVS dbSNP gnomAD frequency
NC_000019.10:g.49861166T>C rs3739209 0.02216
NM_007254.4(PNKP):c.1386+42T>C rs760544069 0.01733
NM_007254.4(PNKP):c.152-85A>G rs3739172 0.01593
NC_000019.10:g.49867667G>C rs184460530 0.01520
NM_007254.4(PNKP):c.817-251C>T rs112722530 0.01228
NM_007254.4(PNKP):c.1188+47C>T rs146492255 0.00992
NM_007254.4(PNKP):c.744+81G>A rs150731099 0.00880
NM_007254.4(PNKP):c.498+233G>T rs79622873 0.00778
NM_007254.4(PNKP):c.745-99C>A rs3739189 0.00692
NM_007254.4(PNKP):c.1387-47T>C rs774469519 0.00649
NM_007254.4(PNKP):c.817-254G>A rs149651968 0.00526
NM_007254.4(PNKP):c.152-111A>G rs115684885 0.00493
NM_007254.4(PNKP):c.199-200_199-193del rs1384612644 0.00455
NM_007254.4(PNKP):c.1029+27T>G rs765967267 0.00409
NM_007254.4(PNKP):c.198+96T>C rs3739174 0.00349
NM_007254.4(PNKP):c.416G>A (p.Arg139His) rs34472250 0.00185
NM_007254.4(PNKP):c.650C>G (p.Thr217Ser) rs115259839 0.00112
NM_007254.4(PNKP):c.627G>A (p.Glu209=) rs532550120 0.00040
NM_007254.4(PNKP):c.-35T>C rs550311179 0.00021
NM_007254.4(PNKP):c.1281C>T (p.Asp427=) rs770775129 0.00019
NM_007254.4(PNKP):c.198+9G>A rs370222304 0.00019
NM_007254.4(PNKP):c.1448+13A>G rs748882543 0.00014
NM_007254.4(PNKP):c.1298+2_1298+5dup rs776617733 0.00013
NM_007254.4(PNKP):c.-13-12C>T rs377123873 0.00011
NM_007254.4(PNKP):c.579-4G>A rs371834726 0.00011
NM_007254.4(PNKP):c.*17C>T rs374836478 0.00010
NM_007254.4(PNKP):c.579-18G>A rs199541652 0.00009
NM_007254.4(PNKP):c.822C>T (p.Asn274=) rs780677866 0.00009
NM_007254.4(PNKP):c.1008C>T (p.Phe336=) rs1474446608 0.00007
NM_007254.4(PNKP):c.1515A>G (p.Leu505=) rs369748873 0.00007
NM_007254.4(PNKP):c.-13-19C>A rs920231330 0.00006
NM_007254.4(PNKP):c.-13-20C>T rs369527946 0.00006
NM_007254.4(PNKP):c.1009G>C (p.Glu337Gln) rs780121125 0.00006
NM_007254.4(PNKP):c.1062C>T (p.Leu354=) rs142830558 0.00006
NM_007254.4(PNKP):c.1387-11G>A rs200785744 0.00006
NM_007254.4(PNKP):c.817-20C>G rs201778535 0.00006
NM_007254.4(PNKP):c.-11C>T rs372465811 0.00004
NM_007254.4(PNKP):c.1189-11C>T rs756362768 0.00004
NM_007254.4(PNKP):c.199-15C>T rs201254691 0.00004
NM_007254.4(PNKP):c.264G>T (p.Gly88=) rs766589333 0.00004
NM_007254.4(PNKP):c.579-19C>T rs368764301 0.00004
NM_007254.4(PNKP):c.1029+20G>T rs1239545577 0.00003
NM_007254.4(PNKP):c.1030-9C>T rs368699840 0.00003
NM_007254.4(PNKP):c.1302C>T (p.Tyr434=) rs747244348 0.00003
NM_007254.4(PNKP):c.1322C>G (p.Ala441Gly) rs549000007 0.00003
NM_007254.4(PNKP):c.1386+19G>T rs1057523595 0.00003
NM_007254.4(PNKP):c.327C>G (p.Thr109=) rs749579842 0.00003
NM_007254.4(PNKP):c.403C>T (p.Leu135=) rs766739774 0.00003
NM_007254.4(PNKP):c.789G>A (p.Thr263=) rs768661843 0.00003
NM_007254.4(PNKP):c.834C>T (p.Pro278=) rs372595462 0.00003
NM_007254.4(PNKP):c.1030-5C>T rs374745816 0.00002
NM_007254.4(PNKP):c.1158C>G (p.Leu386=) rs373766090 0.00002
NM_007254.4(PNKP):c.1188+12C>T rs780736753 0.00002
NM_007254.4(PNKP):c.1344C>T (p.Phe448=) rs762529581 0.00002
NM_007254.4(PNKP):c.1471C>T (p.Leu491=) rs779306097 0.00002
NM_007254.4(PNKP):c.357G>A (p.Pro119=) rs766826936 0.00002
NM_007254.4(PNKP):c.936+6G>A rs751664776 0.00002
NM_007254.4(PNKP):c.-32G>A rs796052845 0.00001
NM_007254.4(PNKP):c.-47C>T rs1487640562 0.00001
NM_007254.4(PNKP):c.-4C>G rs796052847 0.00001
NM_007254.4(PNKP):c.1029+16G>A rs982882766 0.00001
NM_007254.4(PNKP):c.1107C>T (p.Val369=) rs1233198739 0.00001
NM_007254.4(PNKP):c.1126+17T>C rs1384026505 0.00001
NM_007254.4(PNKP):c.1127-12C>T rs769293635 0.00001
NM_007254.4(PNKP):c.1140C>T (p.Thr380=) rs780500233 0.00001
NM_007254.4(PNKP):c.1189-10G>C rs1458942967 0.00001
NM_007254.4(PNKP):c.1233A>G (p.Thr411=) rs1057522305 0.00001
NM_007254.4(PNKP):c.1287G>C (p.Ala429=) rs1281900821 0.00001
NM_007254.4(PNKP):c.1298+20G>T rs765634741 0.00001
NM_007254.4(PNKP):c.1298+5C>T rs1171213214 0.00001
NM_007254.4(PNKP):c.1299-5C>T rs1057522419 0.00001
NM_007254.4(PNKP):c.1387-4A>C rs774527024 0.00001
NM_007254.4(PNKP):c.1448+7T>C rs775646444 0.00001
NM_007254.4(PNKP):c.199-7T>A rs904994238 0.00001
NM_007254.4(PNKP):c.24C>T (p.Gly8=) rs1057522863 0.00001
NM_007254.4(PNKP):c.552C>T (p.Val184=) rs369818814 0.00001
NM_007254.4(PNKP):c.56C>T (p.Ala19Val) rs201258910 0.00001
NM_007254.4(PNKP):c.585G>A (p.Leu195=) rs770100322 0.00001
NM_007254.4(PNKP):c.60C>T (p.Pro20=) rs1037495706 0.00001
NM_007254.4(PNKP):c.624C>T (p.Ala208=) rs571119317 0.00001
NM_007254.4(PNKP):c.636+12C>T rs768950578 0.00001
NM_007254.4(PNKP):c.723G>A (p.Glu241=) rs778970176 0.00001
NM_007254.4(PNKP):c.759G>A (p.Thr253=) rs1057522106 0.00001
NM_007254.4(PNKP):c.762C>T (p.His254=) rs794727920 0.00001
NM_007254.4(PNKP):c.816+6T>A rs1313353571 0.00001
NM_007254.4(PNKP):c.987C>T (p.Leu329=) rs150644303 0.00001
NC_000019.10:g.49861091dup rs3739210
NM_007254.4(PNKP):c.*5C>G rs756320620
NM_007254.4(PNKP):c.-21G>A rs893501652
NM_007254.4(PNKP):c.-26G>T rs1057521745
NM_007254.4(PNKP):c.-3A>G rs796052848
NM_007254.4(PNKP):c.-48T>G rs1057520774
NM_007254.4(PNKP):c.-7A>C rs369053276
NM_007254.4(PNKP):c.1030-20G>A rs1200668101
NM_007254.4(PNKP):c.1030-34A>C rs3739201
NM_007254.4(PNKP):c.1065C>T (p.Pro355=) rs569834947
NM_007254.4(PNKP):c.111C>A (p.Pro37=) rs781573473
NM_007254.4(PNKP):c.1164G>T (p.Ser388=) rs776788871
NM_007254.4(PNKP):c.1188+8del rs763782151
NM_007254.4(PNKP):c.1189-10G>A rs1458942967
NM_007254.4(PNKP):c.1189-67C>T rs3739204
NM_007254.4(PNKP):c.1266C>T (p.Asp422=) rs1055603577
NM_007254.4(PNKP):c.1286_1298+6dup rs760249644
NM_007254.4(PNKP):c.1298+12G>A rs747065246
NM_007254.4(PNKP):c.1298+20G>A rs765634741
NM_007254.4(PNKP):c.1298+8G>C rs1555810842
NM_007254.4(PNKP):c.1299-7C>T rs1555810817
NM_007254.4(PNKP):c.1299-9_1299-8delinsTT rs1064794370
NM_007254.4(PNKP):c.1320C>T (p.Ala440=) rs565533397
NM_007254.4(PNKP):c.1360C>A (p.Leu454Met) rs200611702
NM_007254.4(PNKP):c.1387-3_1387-2del rs760066611
NM_007254.4(PNKP):c.178C>A (p.Arg60=) rs761948305
NM_007254.4(PNKP):c.199-14CT[2] rs749292876
NM_007254.4(PNKP):c.199-199dup rs749242089
NM_007254.4(PNKP):c.199-200del rs34609679
NM_007254.4(PNKP):c.199C>T (p.Leu67=) rs1038434528
NM_007254.4(PNKP):c.243G>A (p.Pro81=) rs1057520480
NM_007254.4(PNKP):c.255C>T (p.Gly85=) rs1568662321
NM_007254.4(PNKP):c.258T>C (p.Ser86=) rs375826483
NM_007254.4(PNKP):c.291T>C (p.Asn97=) rs1555811608
NM_007254.4(PNKP):c.381A>G (p.Gln127=) rs139679798
NM_007254.4(PNKP):c.408G>A (p.Pro136=) rs770822417
NM_007254.4(PNKP):c.408G>T (p.Pro136=) rs770822417
NM_007254.4(PNKP):c.637-13del rs754413273
NM_007254.4(PNKP):c.666C>T (p.Ile222=) rs587784369
NM_007254.4(PNKP):c.744+14G>A rs111647455
NM_007254.4(PNKP):c.817-169G>A rs1290647
NM_007254.4(PNKP):c.817-17A>G rs759404435
NM_007254.4(PNKP):c.817-227G>T rs150411318
NM_007254.4(PNKP):c.817-4G>T rs377241372
NM_007254.4(PNKP):c.817-5del rs767881542
NM_007254.4(PNKP):c.846G>A (p.Gly282=) rs2122329116
NM_007254.4(PNKP):c.867C>T (p.Asp289=) rs771239062
NM_007254.4(PNKP):c.906G>A (p.Lys302=) rs1555811171
NM_007254.4(PNKP):c.936+13C>T rs962788282
NM_007254.4(PNKP):c.937-20T>C rs894694605

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