ClinVar Miner

List of variants in gene PNKP reported by CeGaT Praxis fuer Humangenetik Tuebingen

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Total variants: 18
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HGVS dbSNP
NM_007254.4(PNKP):c.1043G>C (p.Arg348Pro) rs781551273
NM_007254.4(PNKP):c.1127-8C>T rs3739203
NM_007254.4(PNKP):c.1186A>G (p.Arg396Gly) rs563918674
NM_007254.4(PNKP):c.1212C>T (p.Arg404=)
NM_007254.4(PNKP):c.1295_1298+20dup
NM_007254.4(PNKP):c.1395_1399dup (p.Thr467delinsArgTer) rs1443873131
NM_007254.4(PNKP):c.1510del (p.Arg504fs) rs771489173
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.579-4G>A rs371834726
NM_007254.4(PNKP):c.579G>A (p.Arg193=) rs145904995
NM_007254.4(PNKP):c.763G>A (p.Ala255Thr) rs398124249
NM_007254.4(PNKP):c.783G>A (p.Pro261=) rs145307985
NM_007254.4(PNKP):c.831G>A (p.Thr277=) rs148491228
NM_007254.4(PNKP):c.838del (p.Ser280fs)
NM_007254.4(PNKP):c.931C>T (p.Arg311Cys) rs755967508
NM_007254.4(PNKP):c.936+6G>A rs751664776
NM_007254.4(PNKP):c.939T>C (p.Phe313=) rs149731642

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