ClinVar Miner

List of variants in gene PNKP reported as pathogenic for electroclinical syndrome

Included ClinVar conditions (101):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 67
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HGVS dbSNP gnomAD frequency
NM_007254.4(PNKP):c.1549C>T (p.Gln517Ter) rs774995635 0.00019
NM_007254.4(PNKP):c.1123G>T (p.Gly375Trp) rs786203983 0.00004
NM_007254.4(PNKP):c.603dup (p.Lys202Ter) rs796052859 0.00004
NM_007254.4(PNKP):c.1517G>A (p.Trp506Ter) rs778043139 0.00003
NM_007254.4(PNKP):c.318G>A (p.Trp106Ter) rs2074810148 0.00002
NM_007254.4(PNKP):c.1066G>T (p.Glu356Ter) rs1170743406 0.00001
NM_007254.4(PNKP):c.1207C>T (p.Gln403Ter) rs372404688 0.00001
NM_007254.4(PNKP):c.1315C>T (p.Arg439Ter) rs539286945 0.00001
NM_007254.4(PNKP):c.143del (p.Arg48fs) rs766530579 0.00001
NM_007254.4(PNKP):c.363dup (p.Thr122fs) rs745505490 0.00001
NM_007254.4(PNKP):c.992G>A (p.Trp331Ter) rs772727116 0.00001
NC_000019.9:g.(?_50364485)_(50370481_?)del
NC_000019.9:g.(?_50366993)_(50370363_?)del
NM_007254.4(PNKP):c.1003_1016del (p.Gly335fs) rs1131691883
NM_007254.4(PNKP):c.1044_1065dup (p.Glu356fs) rs2074777487
NM_007254.4(PNKP):c.1059C>A (p.Cys353Ter) rs1337771339
NM_007254.4(PNKP):c.1065_1081del (p.Ser357fs) rs1366190965
NM_007254.4(PNKP):c.1065del (p.Glu356fs)
NM_007254.4(PNKP):c.1126+1del
NM_007254.4(PNKP):c.112del (p.Pro37_Leu38insTer)
NM_007254.4(PNKP):c.113del (p.Leu38fs)
NM_007254.4(PNKP):c.1203_1291del (p.Trp402fs) rs1568659036
NM_007254.4(PNKP):c.1206G>A (p.Trp402Ter)
NM_007254.4(PNKP):c.1221_1223del (p.Thr408del) rs786205207
NM_007254.4(PNKP):c.1253_1269dup (p.Thr424fs) rs587784365
NM_007254.4(PNKP):c.1264_1271del (p.Asp422fs)
NM_007254.4(PNKP):c.1265_1289dup (p.Ser430fs)
NM_007254.4(PNKP):c.1270_1283dup (p.Ala429fs) rs746413622
NM_007254.4(PNKP):c.1278_1291del (p.Asp427fs) rs764379536
NM_007254.4(PNKP):c.1283_1296del (p.Ala428fs)
NM_007254.4(PNKP):c.1288_1294del (p.Ser430fs) rs796052860
NM_007254.4(PNKP):c.1288_1294dup (p.Ala432fs) rs796052860
NM_007254.4(PNKP):c.1295_1298+6del rs587784366
NM_007254.4(PNKP):c.1299-1G>A
NM_007254.4(PNKP):c.1299-2A>G rs2122319491
NM_007254.4(PNKP):c.1311T>A (p.Cys437Ter) rs1309576866
NM_007254.4(PNKP):c.1314_1315del (p.Arg439fs)
NM_007254.4(PNKP):c.1317_1321dup (p.Ala441fs) rs796052862
NM_007254.4(PNKP):c.1333del (p.Cys445fs)
NM_007254.4(PNKP):c.1386+49_1387-33del rs752902474
NM_007254.4(PNKP):c.1390C>T (p.Arg464Ter) rs138249970
NM_007254.4(PNKP):c.1395_1396del (p.Glu465fs) rs1413085852
NM_007254.4(PNKP):c.1395_1399dup (p.Thr467delinsArgTer) rs1443873131
NM_007254.4(PNKP):c.1403_1406dup (p.Ser470fs)
NM_007254.4(PNKP):c.1422_1423del (p.Ser475fs) rs2074757362
NM_007254.4(PNKP):c.1440T>G (p.Tyr480Ter) rs2074756863
NM_007254.4(PNKP):c.1448+2T>A rs1600414549
NM_007254.4(PNKP):c.1481_1500dup (p.Ile501fs)
NM_007254.4(PNKP):c.1510del (p.Arg504fs) rs771489173
NM_007254.4(PNKP):c.1541_1548dup (p.Gln517fs) rs1279136929
NM_007254.4(PNKP):c.1543dup (p.Tyr515fs) rs2122315348
NM_007254.4(PNKP):c.298dup (p.His100fs)
NM_007254.4(PNKP):c.36del (p.Glu13fs)
NM_007254.4(PNKP):c.394_395del (p.Asp132fs)
NM_007254.4(PNKP):c.47del (p.Pro16fs) rs1246416070
NM_007254.4(PNKP):c.63del (p.Ile22fs) rs1568663209
NM_007254.4(PNKP):c.63dup (p.Ile22fs) rs1568663209
NM_007254.4(PNKP):c.721G>T (p.Glu241Ter) rs982113263
NM_007254.4(PNKP):c.756_760del (p.Thr253fs) rs2122333424
NM_007254.4(PNKP):c.762_765del (p.His254fs)
NM_007254.4(PNKP):c.808C>T (p.Gln270Ter) rs965965834
NM_007254.4(PNKP):c.847del (p.Asp283fs) rs2122329109
NM_007254.4(PNKP):c.916_917del (p.Phe306fs) rs2074784617
NM_007254.4(PNKP):c.976G>A (p.Glu326Lys) rs267606956
NM_007254.4(PNKP):c.983_986del (p.Phe328fs)
NM_007254.4(PNKP):c.984del (p.Leu329fs) rs1163218519
NM_007254.4(PNKP):c.999_1005dup (p.Phe336fs)

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