ClinVar Miner

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

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Total variants: 23
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HGVS dbSNP
NC_000019.10:g.(?_40403686)_(40403882_?)del
NC_000019.10:g.(?_40403696)_(40403872_?)del
NM_020956.2(PRX):c.*1307C>T rs104894715
NM_020956.2(PRX):c.*1379C>T rs773009397
NM_020956.2(PRX):c.*1595C>T rs574861276
NM_020956.2(PRX):c.*2069C>T rs1210729449
NM_020956.2(PRX):c.*2350T>A rs104894707
NM_020956.2(PRX):c.*2894C>T rs756689732
NM_020956.2(PRX):c.*3058dup rs1568704829
NM_020956.2(PRX):c.*3219_*3220insT rs1301129751
NM_020956.2(PRX):c.*3413C>T rs104894708
NM_020956.2(PRX):c.*791C>T rs104894706
NM_020956.2(PRX):c.165_177dup (p.Gln60fs) rs1599662669
NM_020956.2(PRX):c.231C>G (p.Tyr77Ter) rs752192677
NM_020956.2(PRX):c.353del (p.Lys118fs) rs1568710514
NM_181882.3(PRX):c.1659_1660del (p.Glu553fs)
NM_181882.3(PRX):c.231C>A (p.Tyr77Ter)
NM_181882.3(PRX):c.2787del (p.Lys930fs) rs754521978
NM_181882.3(PRX):c.2857C>T (p.Arg953Ter) rs104894714
NM_181882.3(PRX):c.2993_3000del (p.Leu998fs)
NM_181882.3(PRX):c.458del (p.Pro153fs) rs1599656851
NM_181882.3(PRX):c.607C>T (p.Gln203Ter)
NM_181882.3(PRX):c.627del (p.Ala210fs) rs1599656507

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