ClinVar Miner

List of variants in gene PRX reported as likely pathogenic for not provided

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Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_181882.3(PRX):c.2145T>A (p.Cys715Ter) rs104894707 0.00006
NM_181882.3(PRX):c.1864C>T (p.Gln622Ter) rs1210729449 0.00001
NM_181882.3(PRX):c.1972C>T (p.Gln658Ter) rs2145729505
NM_181882.3(PRX):c.2499del (p.Leu834fs)
NM_181882.3(PRX):c.2775_2776insT (p.Lys926Ter) rs1599652316
NM_181882.3(PRX):c.2787del (p.Lys930fs) rs754521978
NM_181882.3(PRX):c.3286_3356del (p.Ile1096fs) rs1555800610
NM_181882.3(PRX):c.3343del (p.Ala1115fs) rs1064797244
NM_181882.3(PRX):c.3685C>T (p.Arg1229Ter)

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