ClinVar Miner

List of variants in gene PNKP reported as pathogenic for not provided

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Gene type:
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Total variants: 20
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HGVS dbSNP gnomAD frequency
NM_007254.4(PNKP):c.1029+2T>C rs199919568 0.00115
NM_007254.4(PNKP):c.1123G>T (p.Gly375Trp) rs786203983 0.00004
NM_007254.4(PNKP):c.1189-2A>C rs767645983 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.610C>T (p.Arg204Ter) rs796052850 0.00001
NM_007254.4(PNKP):c.992G>A (p.Trp331Ter) rs772727116 0.00001
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.1288_1294dup (p.Ala432fs) rs796052860
NM_007254.4(PNKP):c.1293_1298+2dup rs796052861
NM_007254.4(PNKP):c.1295_1298+3del
NM_007254.4(PNKP):c.1295_1298+6del rs587784366
NM_007254.4(PNKP):c.1317_1321dup (p.Ala441fs) rs796052862
NM_007254.4(PNKP):c.1386+1G>A rs1057520630
NM_007254.4(PNKP):c.1386+1G>C rs1057520630
NM_007254.4(PNKP):c.1386+49_1387-33del rs752902474
NM_007254.4(PNKP):c.1541_1548dup (p.Gln517fs) rs1279136929
NM_007254.4(PNKP):c.490C>T (p.Gln164Ter) rs375781731
NM_007254.4(PNKP):c.976G>A (p.Glu326Lys) rs267606956

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