ClinVar Miner

List of variants in gene PRX reported as pathogenic by OMIM

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Total variants: 11
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HGVS dbSNP
NM_181882.2(PRX):c.1102C>T (p.Arg368Ter) rs104894715
NM_181882.2(PRX):c.1951G>A (p.Asp651Asn) rs3814290
NM_181882.2(PRX):c.2145T>A (p.Cys715Ter) rs104894707
NM_181882.2(PRX):c.2857C>T (p.Arg953Ter) rs104894714
NM_181882.2(PRX):c.3208C>T (p.Arg1070Ter) rs104894708
NM_181882.2(PRX):c.586C>T (p.Arg196Ter) rs104894706
PRX, 1-BP DEL, 2289T
PRX, 1-BP DEL, 247C
PRX, 1-BP DEL, 2787C
PRX, 10-BP INS, NT394
PRX, 4-BP DEL, 1194TTCC

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