ClinVar Miner

List of variants in gene PNPO reported by Athena Diagnostics Inc

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Gene type:
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Total variants: 8
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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.486C>G (p.Pro162=) rs35974730 0.02044
NM_018129.4(PNPO):c.322C>T (p.Arg108Cys) rs746311862 0.00013
NM_018129.4(PNPO):c.727T>C (p.Leu243=) rs773871270 0.00004
NM_018129.4(PNPO):c.686G>A (p.Arg229Gln) rs773450573 0.00003
NM_018129.4(PNPO):c.544G>A (p.Glu182Lys) rs138727329 0.00001
NM_018129.4(PNPO):c.264-2A>G rs780977054
NM_018129.4(PNPO):c.754G>A (p.Glu252Lys) rs1555563409

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