ClinVar Miner

List of variants in gene PNPO reported by Genetic Services Laboratory, University of Chicago

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Gene type:
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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_018129.4(PNPO):c.165C>T (p.Ser55=) rs11079804 0.14534
NM_018129.4(PNPO):c.552G>A (p.Leu184=) rs4378657 0.06317
NM_018129.4(PNPO):c.347G>A (p.Arg116Gln) rs17679445 0.04944
NM_018129.4(PNPO):c.486C>G (p.Pro162=) rs35974730 0.02044
NM_018129.4(PNPO):c.98A>T (p.Asp33Val) rs370243877 0.00013
NM_018129.4(PNPO):c.119G>A (p.Ser40Asn) rs797045893

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