ClinVar Miner

List of variants in gene PNKP studied for Early infantile epileptic encephalopathy 10

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Total variants: 37
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HGVS dbSNP
NM_007254.2(PNKP):c.976G>A (p.Glu326Lys) rs267606956
NM_007254.3(PNKP):c.*15C>T rs1050332
NM_007254.3(PNKP):c.1029+2T>C rs199919568
NM_007254.3(PNKP):c.1126+9C>T rs3739202
NM_007254.3(PNKP):c.1127-8C>T rs3739203
NM_007254.3(PNKP):c.1189-10delG rs3739205
NM_007254.3(PNKP):c.1221_1223delCAC (p.Thr408del) rs786205207
NM_007254.3(PNKP):c.1231_1234delACAG (p.Thr411Profs) rs886054583
NM_007254.3(PNKP):c.1295_1298+6delCCAGGTAGCG rs587784366
NM_007254.3(PNKP):c.1319C>G (p.Ala440Gly) rs377688490
NM_007254.3(PNKP):c.1385G>A (p.Arg462Gln) rs376854895
NM_007254.3(PNKP):c.1387-49_1387-33del rs752902474
NM_007254.3(PNKP):c.1482C>A (p.Gly494=) rs60279874
NM_007254.3(PNKP):c.1497G>A (p.Leu499=) rs142199280
NM_007254.3(PNKP):c.151+18T>G rs55756709
NM_007254.3(PNKP):c.1522G>A (p.Glu508Lys) rs146478958
NM_007254.3(PNKP):c.188C>T (p.Ala63Val) rs3739173
NM_007254.3(PNKP):c.302C>T (p.Pro101Leu) rs587784367
NM_007254.3(PNKP):c.416G>A (p.Arg139His) rs34472250
NM_007254.3(PNKP):c.457T>C (p.Leu153=) rs587784368
NM_007254.3(PNKP):c.526C>T (p.Leu176Phe) rs267606957
NM_007254.3(PNKP):c.538C>A (p.Arg180Ser) rs3739185
NM_007254.3(PNKP):c.579-4G>A rs371834726
NM_007254.3(PNKP):c.58C>T (p.Pro20Ser) rs3739168
NM_007254.3(PNKP):c.636+1G>T rs1247055716
NM_007254.3(PNKP):c.666C>T (p.Ile222=) rs587784369
NM_007254.3(PNKP):c.671G>A (p.Arg224His) rs199705876
NM_007254.3(PNKP):c.672C>T (p.Arg224=) rs151180981
NM_007254.3(PNKP):c.744+8T>C rs587784370
NM_007254.3(PNKP):c.783G>A (p.Pro261=) rs145307985
NM_007254.3(PNKP):c.861G>C (p.Val287=) rs75203375
NM_007254.3(PNKP):c.876A>G (p.Gly292=) rs3739199
NM_007254.3(PNKP):c.939T>C (p.Phe313=) rs149731642
NM_007254.3(PNKP):c.968C>T (p.Thr323Met) rs372148913
NM_007254.3(PNKP):c.994C>T (p.Pro332Ser) rs373922574
NM_007254.4(PNKP):c.1253_1269dup (p.Thr424Glyfs) rs587784365
NM_007254.4(PNKP):c.1288_1298+1del

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