ClinVar Miner

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

Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 97
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HGVS dbSNP
NC_000019.10:g.49865435_49865436del
NM_007254.3(PNKP):c.1188+8delC rs763782151
NM_007254.3(PNKP):c.637-13delC rs754413273
NM_007254.3(PNKP):c.817-5delC rs767881542
NM_007254.4(PNKP):c.*17C>T rs374836478
NM_007254.4(PNKP):c.-11C>T rs372465811
NM_007254.4(PNKP):c.-13-19C>A rs920231330
NM_007254.4(PNKP):c.-13-20C>T rs369527946
NM_007254.4(PNKP):c.-21G>A rs893501652
NM_007254.4(PNKP):c.-26G>T rs1057521745
NM_007254.4(PNKP):c.-32G>A rs796052845
NM_007254.4(PNKP):c.-35T>C rs550311179
NM_007254.4(PNKP):c.-3A>G rs796052848
NM_007254.4(PNKP):c.-47C>T rs1487640562
NM_007254.4(PNKP):c.-48T>G rs1057520774
NM_007254.4(PNKP):c.-4C>G rs796052847
NM_007254.4(PNKP):c.-7A>C rs369053276
NM_007254.4(PNKP):c.1009G>C (p.Glu337Gln) rs780121125
NM_007254.4(PNKP):c.1029+16G>A
NM_007254.4(PNKP):c.1029+20G>T rs1239545577
NM_007254.4(PNKP):c.1030-20G>A rs1200668101
NM_007254.4(PNKP):c.1030-5C>T rs374745816
NM_007254.4(PNKP):c.1030-9C>T rs368699840
NM_007254.4(PNKP):c.1062C>T (p.Leu354=) rs142830558
NM_007254.4(PNKP):c.1065C>T (p.Pro355=) rs569834947
NM_007254.4(PNKP):c.1126+17T>C rs1384026505
NM_007254.4(PNKP):c.1127-12C>T
NM_007254.4(PNKP):c.1140C>T (p.Thr380=) rs780500233
NM_007254.4(PNKP):c.1158C>G (p.Leu386=) rs373766090
NM_007254.4(PNKP):c.1164G>T (p.Ser388=) rs776788871
NM_007254.4(PNKP):c.1188+12C>T rs780736753
NM_007254.4(PNKP):c.1188+47C>T
NM_007254.4(PNKP):c.1189-10G>A
NM_007254.4(PNKP):c.1233A>G (p.Thr411=) rs1057522305
NM_007254.4(PNKP):c.1266C>T (p.Asp422=) rs1055603577
NM_007254.4(PNKP):c.1281C>T (p.Asp427=) rs770775129
NM_007254.4(PNKP):c.1286_1298+6dup rs760249644
NM_007254.4(PNKP):c.1287G>C (p.Ala429=) rs1281900821
NM_007254.4(PNKP):c.1298+12G>A rs747065246
NM_007254.4(PNKP):c.1298+20G>A rs765634741
NM_007254.4(PNKP):c.1298+20G>T
NM_007254.4(PNKP):c.1298+2_1298+5dup rs776617733
NM_007254.4(PNKP):c.1298+5C>T rs1171213214
NM_007254.4(PNKP):c.1298+8G>C rs1555810842
NM_007254.4(PNKP):c.1299-5C>T rs1057522419
NM_007254.4(PNKP):c.1299-7C>T rs1555810817
NM_007254.4(PNKP):c.1299-9_1299-8delinsTT rs1064794370
NM_007254.4(PNKP):c.1302C>T (p.Tyr434=) rs747244348
NM_007254.4(PNKP):c.1320C>T (p.Ala440=) rs565533397
NM_007254.4(PNKP):c.1322C>G (p.Ala441Gly) rs549000007
NM_007254.4(PNKP):c.1344C>T (p.Phe448=) rs762529581
NM_007254.4(PNKP):c.1386+19G>T rs1057523595
NM_007254.4(PNKP):c.1387-11G>A rs200785744
NM_007254.4(PNKP):c.1441G>A (p.Gly481Ser) rs146941866
NM_007254.4(PNKP):c.1448+13A>G rs748882543
NM_007254.4(PNKP):c.1448+7T>C rs775646444
NM_007254.4(PNKP):c.1515A>G (p.Leu505=) rs369748873
NM_007254.4(PNKP):c.178C>A (p.Arg60=) rs761948305
NM_007254.4(PNKP):c.198+9G>A rs370222304
NM_007254.4(PNKP):c.199-15C>T rs201254691
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.24C>T (p.Gly8=) rs1057522863
NM_007254.4(PNKP):c.291T>C (p.Asn97=) rs1555811608
NM_007254.4(PNKP):c.357G>A (p.Pro119=) rs766826936
NM_007254.4(PNKP):c.381A>G (p.Gln127=) rs139679798
NM_007254.4(PNKP):c.403C>T (p.Leu135=) rs766739774
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.416G>A (p.Arg139His) rs34472250
NM_007254.4(PNKP):c.498+233G>T
NM_007254.4(PNKP):c.552C>T (p.Val184=) rs369818814
NM_007254.4(PNKP):c.579-18G>A rs199541652
NM_007254.4(PNKP):c.579-19C>T rs368764301
NM_007254.4(PNKP):c.579-4G>A rs371834726
NM_007254.4(PNKP):c.585G>A (p.Leu195=) rs770100322
NM_007254.4(PNKP):c.60C>T (p.Pro20=) rs1037495706
NM_007254.4(PNKP):c.624C>T (p.Ala208=) rs571119317
NM_007254.4(PNKP):c.636+12C>T rs768950578
NM_007254.4(PNKP):c.666C>T (p.Ile222=) rs587784369
NM_007254.4(PNKP):c.723G>A (p.Glu241=) rs778970176
NM_007254.4(PNKP):c.744+14G>A rs111647455
NM_007254.4(PNKP):c.744+81G>A
NM_007254.4(PNKP):c.745-99C>A
NM_007254.4(PNKP):c.759G>A (p.Thr253=) rs1057522106
NM_007254.4(PNKP):c.762C>T (p.His254=) rs794727920
NM_007254.4(PNKP):c.789G>A (p.Thr263=) rs768661843
NM_007254.4(PNKP):c.816+6T>A rs1313353571
NM_007254.4(PNKP):c.817-17A>G rs759404435
NM_007254.4(PNKP):c.817-20C>G rs201778535
NM_007254.4(PNKP):c.817-254G>A
NM_007254.4(PNKP):c.817-4G>T rs377241372
NM_007254.4(PNKP):c.834C>T (p.Pro278=) rs372595462
NM_007254.4(PNKP):c.906G>A (p.Lys302=) rs1555811171
NM_007254.4(PNKP):c.936+13C>T rs962788282
NM_007254.4(PNKP):c.936+6G>A rs751664776
NM_007254.4(PNKP):c.937-20T>C rs894694605

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