ClinVar Miner

List of variants in gene PNKP reported as benign by GeneDx

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Gene type:
ClinVar version:
Total variants: 46
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HGVS dbSNP
NM_007254.4(PNKP):c.*15C>T rs1050332
NM_007254.4(PNKP):c.-50G>C rs3739166
NM_007254.4(PNKP):c.1032G>A (p.Arg344=) rs185452809
NM_007254.4(PNKP):c.1126+9C>T rs3739202
NM_007254.4(PNKP):c.1127-8C>T rs3739203
NM_007254.4(PNKP):c.1189-10del rs3739205
NM_007254.4(PNKP):c.1189-22_1189-19del rs368832563
NM_007254.4(PNKP):c.1257C>T (p.Val419=) rs369003964
NM_007254.4(PNKP):c.1298+19C>T rs541129252
NM_007254.4(PNKP):c.1298+6G>A rs578207030
NM_007254.4(PNKP):c.1299-6C>T rs112635688
NM_007254.4(PNKP):c.1329C>T (p.Val443=) rs796052846
NM_007254.4(PNKP):c.1387-3_1387-2del rs760066611
NM_007254.4(PNKP):c.1433T>G (p.Val478Gly) rs3739206
NM_007254.4(PNKP):c.1449-19C>A rs772322533
NM_007254.4(PNKP):c.1491C>T (p.Ala497=) rs116192442
NM_007254.4(PNKP):c.1495C>T (p.Leu499=) rs587781114
NM_007254.4(PNKP):c.1497G>A (p.Leu499=) rs142199280
NM_007254.4(PNKP):c.151+11C>T rs587781113
NM_007254.4(PNKP):c.151+18T>G rs55756709
NM_007254.4(PNKP):c.151+205A>C
NM_007254.4(PNKP):c.151+245G>A
NM_007254.4(PNKP):c.1522G>A (p.Glu508Lys) rs146478958
NM_007254.4(PNKP):c.1557C>T (p.Ser519=) rs142180374
NM_007254.4(PNKP):c.199-170G>A
NM_007254.4(PNKP):c.498+23A>T rs1290649
NM_007254.4(PNKP):c.498+268G>T
NM_007254.4(PNKP):c.501G>A (p.Val167=) rs142143566
NM_007254.4(PNKP):c.519C>T (p.Asp173=) rs144284975
NM_007254.4(PNKP):c.538C>A (p.Arg180Ser) rs3739185
NM_007254.4(PNKP):c.564C>T (p.Gly188=) rs574408360
NM_007254.4(PNKP):c.579G>A (p.Arg193=) rs145904995
NM_007254.4(PNKP):c.586T>A (p.Tyr196Asn) rs3739186
NM_007254.4(PNKP):c.58C>T (p.Pro20Ser) rs3739168
NM_007254.4(PNKP):c.636+7G>A rs3739187
NM_007254.4(PNKP):c.672C>T (p.Arg224=) rs151180981
NM_007254.4(PNKP):c.678G>A (p.Lys226=) rs141969535
NM_007254.4(PNKP):c.783G>A (p.Pro261=) rs145307985
NM_007254.4(PNKP):c.816+20C>T rs372038893
NM_007254.4(PNKP):c.817-169G>T
NM_007254.4(PNKP):c.817-47C>T rs3739198
NM_007254.4(PNKP):c.831G>A (p.Thr277=) rs148491228
NM_007254.4(PNKP):c.876A>G (p.Gly292=) rs3739199
NM_007254.4(PNKP):c.936+13dup rs3739200
NM_007254.4(PNKP):c.937-10C>T rs376801468
NM_007254.4(PNKP):c.939T>C (p.Phe313=) rs149731642

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