ClinVar Miner

List of variants in gene PRX studied for Charcot-Marie-Tooth disease

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Total variants: 43
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HGVS dbSNP
NM_020956.2(PRX):c.*1053T>G rs776556523
NM_020956.2(PRX):c.*1080_*1111del
NM_020956.2(PRX):c.*1120_*1128dup
NM_020956.2(PRX):c.*1129A>T
NM_020956.2(PRX):c.*1132T>G
NM_020956.2(PRX):c.*1295C>T
NM_020956.2(PRX):c.*1399_*1402del
NM_020956.2(PRX):c.*1779T>C rs149715830
NM_020956.2(PRX):c.*1844C>T
NM_020956.2(PRX):c.*2069C>T
NM_020956.2(PRX):c.*2156G>A rs3814290
NM_020956.2(PRX):c.*2249G>T
NM_020956.2(PRX):c.*2303del rs281865062
NM_020956.2(PRX):c.*2756_*2757TC[1]
NM_020956.2(PRX):c.*2949A>T
NM_020956.2(PRX):c.*3114G>A rs764162630
NM_020956.2(PRX):c.*3476G>A rs368459753
NM_020956.2(PRX):c.*3927G>A rs139120811
NM_020956.2(PRX):c.*3977_*3978delinsA
NM_020956.2(PRX):c.*4343C>T rs771840476
NM_020956.2(PRX):c.*590_*599dup
NM_020956.2(PRX):c.*791C>T rs104894706
NM_020956.2(PRX):c.*794G>T
NM_020956.2(PRX):c.*921C>T rs528907584
NM_020956.2(PRX):c.*978_*979dup
NM_020956.2(PRX):c.116_117del (p.Lys39fs)
NM_020956.2(PRX):c.124_125dup (p.Phe43fs)
NM_020956.2(PRX):c.133C>G (p.Arg45Gly) rs115090201
NM_020956.2(PRX):c.145G>T (p.Glu49Ter)
NM_020956.2(PRX):c.379C>T (p.Leu127=) rs886054441
NM_181882.3(PRX):c.1173del (p.Arg392fs)
NM_181882.3(PRX):c.2421del (p.Lys808fs)
NM_181882.3(PRX):c.2611G>C (p.Val871Leu)
NM_181882.3(PRX):c.2612T>C (p.Val871Ala)
NM_181882.3(PRX):c.2707A>G (p.Ile903Val)
NM_181882.3(PRX):c.3099del (p.Glu1034fs)
NM_181882.3(PRX):c.381+22C>A
NM_181882.3(PRX):c.3873C>G (p.Tyr1291Ter)
NM_181882.3(PRX):c.3925C>G (p.Pro1309Ala)
NM_181882.3(PRX):c.4186G>A (p.Asp1396Asn)
NM_181882.3(PRX):c.4312C>G (p.Pro1438Ala)
NM_181882.3(PRX):c.642dup (p.Arg215fs)
NM_181882.3(PRX):c.730del (p.Ala244fs)

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