ClinVar Miner

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

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Total variants: 22
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HGVS dbSNP
NM_020956.2(PRX):c.*1184del rs1568708792
NM_020956.2(PRX):c.*1399_*1402del
NM_020956.2(PRX):c.*1421G>A rs117336941
NM_020956.2(PRX):c.*1688G>C rs146789340
NM_020956.2(PRX):c.*1688_*1765del rs1555801137
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.*2494del rs797045102
NM_020956.2(PRX):c.*2860T>C rs268672
NM_020956.2(PRX):c.*2968A>G rs268673
NM_020956.2(PRX):c.*3413C>T rs104894708
NM_020956.2(PRX):c.*3453C>G rs3745202
NM_020956.2(PRX):c.*3908G>T rs1385904344
NM_020956.2(PRX):c.*4523G>A rs138437458
NM_020956.2(PRX):c.*590_*599dup
NM_020956.2(PRX):c.*791C>T rs104894706
NM_020956.2(PRX):c.247del (p.Leu83fs) rs281865061
NM_020956.2(PRX):c.306C>T (p.Thr102=) rs744389
NM_181882.3(PRX):c.2787del (p.Lys930fs) rs754521978
NM_181882.3(PRX):c.2857C>T (p.Arg953Ter) rs104894714
NM_181882.3(PRX):c.3085A>T (p.Arg1029Ter)

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