ClinVar Miner

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

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 13
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NM_020956.2(PRX):c.*1184del rs1568708792
NM_020956.2(PRX):c.*2156G>A rs3814290
NM_020956.2(PRX):c.*2303del rs281865062
NM_020956.2(PRX):c.*2350T>A rs104894707
NM_020956.2(PRX):c.*3413C>T rs104894708
NM_020956.2(PRX):c.*3908G>T rs1385904344
NM_020956.2(PRX):c.*791C>T rs104894706
NM_020956.2(PRX):c.247del (p.Leu83fs) rs281865061
NM_181882.3(PRX):c.2787del (p.Lys930fs) rs754521978
NM_181882.3(PRX):c.2857C>T (p.Arg953Ter) rs104894714

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