ClinVar Miner

List of variants in gene PNKP reported by OMIM

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Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_007254.4(PNKP):c.1549C>T (p.Gln517Ter) rs774995635 0.00019
NM_007254.4(PNKP):c.1123G>T (p.Gly375Trp) rs786203983 0.00004
NM_007254.4(PNKP):c.1221_1223del (p.Thr408del) rs786205207
NM_007254.4(PNKP):c.1253_1269dup (p.Thr424fs) rs587784365
NM_007254.4(PNKP):c.1322_1323insAGCCG (p.Gly442fs) rs886037744
NM_007254.4(PNKP):c.1386+49_1387-33del rs752902474
NM_007254.4(PNKP):c.1549_1550insTGTACTGC (p.Gln517fs) rs1555810613
NM_007254.4(PNKP):c.526C>T (p.Leu176Phe) rs267606957
NM_007254.4(PNKP):c.976G>A (p.Glu326Lys) rs267606956

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