ClinVar Miner

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

Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 91
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HGVS dbSNP gnomAD frequency
NM_007254.4(PNKP):c.498+23A>T rs1290649 0.39505
NM_007254.4(PNKP):c.817-47C>T rs3739198 0.01670
NM_007254.4(PNKP):c.58C>T (p.Pro20Ser) rs3739168 0.00946
NM_007254.4(PNKP):c.1032G>A (p.Arg344=) rs185452809 0.00406
NM_007254.4(PNKP):c.783G>A (p.Pro261=) rs145307985 0.00353
NM_007254.4(PNKP):c.939T>C (p.Phe313=) rs149731642 0.00290
NM_007254.4(PNKP):c.1497G>A (p.Leu499=) rs142199280 0.00232
NM_007254.4(PNKP):c.579G>A (p.Arg193=) rs145904995 0.00205
NM_007254.4(PNKP):c.416G>A (p.Arg139His) rs34472250 0.00185
NM_007254.4(PNKP):c.1491C>T (p.Ala497=) rs116192442 0.00133
NM_007254.4(PNKP):c.831G>A (p.Thr277=) rs148491228 0.00128
NM_007254.4(PNKP):c.672C>T (p.Arg224=) rs151180981 0.00046
NM_007254.4(PNKP):c.-35T>C rs550311179 0.00021
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.*17C>T rs374836478 0.00010
NM_007254.4(PNKP):c.579-18G>A rs199541652 0.00009
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.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.351T>C (p.Asp117=) rs545664057 0.00005
NM_007254.4(PNKP):c.-11C>T rs372465811 0.00004
NM_007254.4(PNKP):c.199-15C>T rs201254691 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.1322C>G (p.Ala441Gly) rs549000007 0.00003
NM_007254.4(PNKP):c.789G>A (p.Thr263=) rs768661843 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.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.1126+17T>C rs1384026505 0.00001
NM_007254.4(PNKP):c.1140C>T (p.Thr380=) rs780500233 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+5C>T rs1171213214 0.00001
NM_007254.4(PNKP):c.1299-5C>T rs1057522419 0.00001
NM_007254.4(PNKP):c.1448+7T>C rs775646444 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.585G>A (p.Leu195=) rs770100322 0.00001
NM_007254.4(PNKP):c.60C>T (p.Pro20=) rs1037495706 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.762C>T (p.His254=) rs794727920 0.00001
NM_007254.4(PNKP):c.816+6T>A rs1313353571 0.00001
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.1065C>T (p.Pro355=) rs569834947
NM_007254.4(PNKP):c.1164G>T (p.Ser388=) rs776788871
NM_007254.4(PNKP):c.1188+8del rs763782151
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.1360C>A (p.Leu454Met) rs200611702
NM_007254.4(PNKP):c.1385G>A (p.Arg462Gln) rs376854895
NM_007254.4(PNKP):c.178C>A (p.Arg60=) rs761948305
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.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.538C>A (p.Arg180Ser) rs3739185
NM_007254.4(PNKP):c.637-13del rs754413273
NM_007254.4(PNKP):c.663C>T (p.Ser221=) rs1376565938
NM_007254.4(PNKP):c.666C>T (p.Ile222=) rs587784369
NM_007254.4(PNKP):c.744+14G>A rs111647455
NM_007254.4(PNKP):c.817-17A>G rs759404435
NM_007254.4(PNKP):c.817-4G>T rs377241372
NM_007254.4(PNKP):c.817-5del rs767881542
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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