ClinVar Miner

List of variants in gene PNKP reported as uncertain significance for Epileptic encephalopathy

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Gene type:
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Total variants: 20
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HGVS dbSNP
NM_007254.3(PNKP):c.*21A>C rs201872477
NM_007254.3(PNKP):c.*23A>C rs886054582
NM_007254.3(PNKP):c.-105G>A rs886054585
NM_007254.3(PNKP):c.-50G>C rs3739166
NM_007254.3(PNKP):c.-74G>A rs886054584
NM_007254.3(PNKP):c.109C>G (p.Pro37Ala) rs536541839
NM_007254.3(PNKP):c.1127-8C>T rs3739203
NM_007254.3(PNKP):c.1319C>G (p.Ala440Gly) rs377688490
NM_007254.3(PNKP):c.1320C>T (p.Ala440=) rs565533397
NM_007254.3(PNKP):c.1360C>A (p.Leu454Met) rs200611702
NM_007254.3(PNKP):c.1385G>C (p.Arg462Pro) rs376854895
NM_007254.3(PNKP):c.1387-11G>A rs200785744
NM_007254.3(PNKP):c.1390C>A (p.Arg464=) rs138249970
NM_007254.3(PNKP):c.19C>T (p.Pro7Ser) rs201221600
NM_007254.3(PNKP):c.579-5C>T rs767753048
NM_007254.3(PNKP):c.579G>A (p.Arg193=) rs145904995
NM_007254.3(PNKP):c.627G>A (p.Glu209=) rs532550120
NM_007254.3(PNKP):c.831G>A (p.Thr277=) rs148491228
NM_007254.3(PNKP):c.901C>T (p.Arg301Trp) rs201503405
NM_007254.3(PNKP):c.939T>C (p.Phe313=) rs149731642

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