ClinVar Miner

List of variants in gene PRX reported as uncertain significance for Charcot-Marie-Tooth disease

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Total variants: 28
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HGVS dbSNP
NM_020956.2(PRX):c.*1080_*1111del
NM_020956.2(PRX):c.*1399_*1402del
NM_020956.2(PRX):c.*2303del rs281865062
NM_020956.2(PRX):c.*3304del
NM_020956.2(PRX):c.*3977_*3978delinsA
NM_020956.2(PRX):c.*590_*599dup
NM_020956.2(PRX):c.116_117del (p.Lys39fs)
NM_020956.2(PRX):c.133C>G (p.Arg45Gly) rs115090201
NM_020956.2(PRX):c.145G>T (p.Glu49Ter)
NM_181882.2(PRX):c.1090C>T (p.Arg364Ter)
NM_181882.2(PRX):c.1574T>C (p.Val525Ala) rs149715830
NM_181882.2(PRX):c.1639C>T (p.Gln547Ter)
NM_181882.2(PRX):c.1951G>A (p.Asp651Asn) rs3814290
NM_181882.2(PRX):c.2044G>T (p.Glu682Ter)
NM_181882.2(PRX):c.2421del (p.Lys808fs)
NM_181882.2(PRX):c.2551_2552TC[1] (p.Thr853fs)
NM_181882.2(PRX):c.2744A>T (p.Glu915Val)
NM_181882.2(PRX):c.2909G>A (p.Arg970Gln)
NM_181882.2(PRX):c.3198del (p.Phe1066fs)
NM_181882.2(PRX):c.4138C>T (p.Arg1380Cys) rs771840476
NM_181882.2(PRX):c.586C>T (p.Arg196Ter) rs104894706
NM_181882.2(PRX):c.589G>T (p.Glu197Ter)
NM_181882.2(PRX):c.642dup (p.Arg215fs)
NM_181882.2(PRX):c.730del (p.Ala244fs)
NM_181882.2(PRX):c.773_774dup (p.Ser259fs)
NM_181882.2(PRX):c.915_923dup (p.305_307TLP[3])
NM_181882.2(PRX):c.924A>T (p.Thr308=)
NM_181882.2(PRX):c.927T>G (p.Leu309=)

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