ClinVar Miner

List of variants in gene PRX reported as pathogenic for Charcot-Marie-Tooth disease, demyelinating, type 4F

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Total variants: 10
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HGVS dbSNP
NM_020956.2(PRX):c.*1184del rs1568708792
NM_020956.2(PRX):c.*2303del rs281865062
NM_020956.2(PRX):c.*3413C>T rs104894708
NM_020956.2(PRX):c.247del (p.Leu83fs) rs281865061
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.2787del (p.Lys930fs) rs754521978
NM_181882.2(PRX):c.2857C>T (p.Arg953Ter) rs104894714
NM_181882.2(PRX):c.3703G>T (p.Glu1235Ter) rs1385904344
NM_181882.2(PRX):c.586C>T (p.Arg196Ter) rs104894706

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