ClinVar Miner

List of variants in gene PNKP reported as likely pathogenic by GeneDx

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Total variants: 15
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HGVS dbSNP
GRCh37/hg19 19q13.33(chr19:50364553-50365166)x1
NM_007254.4(PNKP):c.1003_1016del (p.Gly335fs) rs1131691883
NM_007254.4(PNKP):c.1029+1G>A rs959497903
NM_007254.4(PNKP):c.1029+2T>C rs199919568
NM_007254.4(PNKP):c.1126+3_1126+4dup rs750550558
NM_007254.4(PNKP):c.1188+1G>A rs1057518102
NM_007254.4(PNKP):c.1189_1237dup (p.Leu413delinsArgHisAlaArgLeuLeuAlaAlaLeuCysAspHisValTer) rs1555810891
NM_007254.4(PNKP):c.1207C>T (p.Gln403Ter) rs372404688
NM_007254.4(PNKP):c.1215dup (p.Val406fs) rs1389034284
NM_007254.4(PNKP):c.1228_1229GA[1] (p.Glu410fs) rs1064794452
NM_007254.4(PNKP):c.1278_1291del (p.Asp427fs) rs764379536
NM_007254.4(PNKP):c.1287_1298+1dup rs1555810849
NM_007254.4(PNKP):c.1378_1380AAC[1] (p.Asn461del) rs796052863
NM_007254.4(PNKP):c.229C>T (p.Gln77Ter) rs1568662343
NM_007254.4(PNKP):c.603dup (p.Lys202Ter) rs796052859

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