ClinVar Miner

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

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Total variants: 85
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HGVS dbSNP
NM_007254.4(PNKP):c.*15C>T rs1050332
NM_007254.4(PNKP):c.*21A>C rs201872477
NM_007254.4(PNKP):c.*23A>C rs886054582
NM_007254.4(PNKP):c.*43G>A
NM_007254.4(PNKP):c.-105G>A rs886054585
NM_007254.4(PNKP):c.-21G>C
NM_007254.4(PNKP):c.-35T>C rs550311179
NM_007254.4(PNKP):c.-50G>C rs3739166
NM_007254.4(PNKP):c.-74G>A rs886054584
NM_007254.4(PNKP):c.-90G>A
NM_007254.4(PNKP):c.1029+2T>C rs199919568
NM_007254.4(PNKP):c.107G>A (p.Gly36Glu) rs756589726
NM_007254.4(PNKP):c.109C>G (p.Pro37Ala) rs536541839
NM_007254.4(PNKP):c.1126+15C>T
NM_007254.4(PNKP):c.1126+5G>A
NM_007254.4(PNKP):c.1126+9C>T rs3739202
NM_007254.4(PNKP):c.1127-8C>T rs3739203
NM_007254.4(PNKP):c.1133A>C (p.Lys378Thr) rs1600416892
NM_007254.4(PNKP):c.1158C>G (p.Leu386=) rs373766090
NM_007254.4(PNKP):c.1189-10del rs3739205
NM_007254.4(PNKP):c.1198G>C (p.Gly400Arg)
NM_007254.4(PNKP):c.1221_1223del (p.Thr408del) rs786205207
NM_007254.4(PNKP):c.1231_1234del (p.Thr411fs) rs886054583
NM_007254.4(PNKP):c.1253_1269dup (p.Thr424fs) rs587784365
NM_007254.4(PNKP):c.1261_1262insGGGTCGCCATCGACAAC (p.Ile421fs) rs1600416052
NM_007254.4(PNKP):c.1286C>G (p.Ala429Gly)
NM_007254.4(PNKP):c.1288_1298+1del rs1555810849
NM_007254.4(PNKP):c.1295_1298+6del rs587784366
NM_007254.4(PNKP):c.1319C>G (p.Ala440Gly) rs377688490
NM_007254.4(PNKP):c.1320C>T (p.Ala440=) rs565533397
NM_007254.4(PNKP):c.1322C>G (p.Ala441Gly) rs549000007
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.1385G>C (p.Arg462Pro) rs376854895
NM_007254.4(PNKP):c.1386+49_1387-33del rs752902474
NM_007254.4(PNKP):c.1387-11G>A rs200785744
NM_007254.4(PNKP):c.1390C>A (p.Arg464=) rs138249970
NM_007254.4(PNKP):c.1413T>C (p.His471=) rs370017666
NM_007254.4(PNKP):c.1422G>A (p.Val474=)
NM_007254.4(PNKP):c.1433T>G (p.Val478Gly) rs3739206
NM_007254.4(PNKP):c.1482C>A (p.Gly494=) rs60279874
NM_007254.4(PNKP):c.1491C>T (p.Ala497=) rs116192442
NM_007254.4(PNKP):c.151+18T>G rs55756709
NM_007254.4(PNKP):c.1510C>G (p.Arg504Gly) rs148669160
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.1559A>G (p.Glu520Gly) rs886043128
NM_007254.4(PNKP):c.188C>T (p.Ala63Val) rs3739173
NM_007254.4(PNKP):c.199-15C>T rs201254691
NM_007254.4(PNKP):c.19C>T (p.Pro7Ser) rs201221600
NM_007254.4(PNKP):c.264G>T (p.Gly88=)
NM_007254.4(PNKP):c.290A>G (p.Asn97Ser) rs140290151
NM_007254.4(PNKP):c.302C>T (p.Pro101Leu) rs587784367
NM_007254.4(PNKP):c.416G>A (p.Arg139His) rs34472250
NM_007254.4(PNKP):c.42C>T (p.Ser14=)
NM_007254.4(PNKP):c.457T>C (p.Leu153=) rs587784368
NM_007254.4(PNKP):c.519C>T (p.Asp173=) rs144284975
NM_007254.4(PNKP):c.526C>T (p.Leu176Phe) rs267606957
NM_007254.4(PNKP):c.538C>A (p.Arg180Ser) rs3739185
NM_007254.4(PNKP):c.56C>T (p.Ala19Val) rs201258910
NM_007254.4(PNKP):c.579-4G>A rs371834726
NM_007254.4(PNKP):c.579-5C>T rs767753048
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.627G>A (p.Glu209=) rs532550120
NM_007254.4(PNKP):c.636+1G>T rs1247055716
NM_007254.4(PNKP):c.636+7G>A rs3739187
NM_007254.4(PNKP):c.650C>G (p.Thr217Ser) rs115259839
NM_007254.4(PNKP):c.666C>T (p.Ile222=) rs587784369
NM_007254.4(PNKP):c.671G>A (p.Arg224His) rs199705876
NM_007254.4(PNKP):c.672C>T (p.Arg224=) rs151180981
NM_007254.4(PNKP):c.673G>A (p.Gly225Arg) rs144257114
NM_007254.4(PNKP):c.678G>A (p.Lys226=) rs141969535
NM_007254.4(PNKP):c.744+8T>C rs587784370
NM_007254.4(PNKP):c.783G>A (p.Pro261=) rs145307985
NM_007254.4(PNKP):c.822C>T (p.Asn274=) rs780677866
NM_007254.4(PNKP):c.831G>A (p.Thr277=) rs148491228
NM_007254.4(PNKP):c.861G>C (p.Val287=) rs75203375
NM_007254.4(PNKP):c.876A>G (p.Gly292=) rs3739199
NM_007254.4(PNKP):c.901C>T (p.Arg301Trp) rs201503405
NM_007254.4(PNKP):c.939T>C (p.Phe313=) rs149731642
NM_007254.4(PNKP):c.968C>T (p.Thr323Met) rs372148913
NM_007254.4(PNKP):c.976G>A (p.Glu326Lys) rs267606956
NM_007254.4(PNKP):c.994C>T (p.Pro332Ser) rs373922574

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