ClinVar Miner

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

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Total variants: 52
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HGVS dbSNP gnomAD frequency
NM_181882.3(PRX):c.2145T>A (p.Cys715Ter) rs104894707 0.00006
NM_181882.3(PRX):c.1090C>T (p.Arg364Ter) rs144183238 0.00005
NM_181882.3(PRX):c.589G>T (p.Glu197Ter) rs753857146 0.00003
NM_181882.3(PRX):c.1102C>T (p.Arg368Ter) rs104894715 0.00002
NM_181882.3(PRX):c.2689C>T (p.Arg897Ter) rs756689732 0.00002
NM_181882.3(PRX):c.1174C>T (p.Arg392Ter) rs773009397 0.00001
NM_181882.3(PRX):c.1390C>T (p.Arg464Ter) rs574861276 0.00001
NM_181882.3(PRX):c.1864C>T (p.Gln622Ter) rs1210729449 0.00001
NM_181882.3(PRX):c.2853dup (p.Gly952fs) rs1568704829 0.00001
NM_181882.3(PRX):c.2857C>T (p.Arg953Ter) rs104894714 0.00001
NM_181882.3(PRX):c.3014_3015insT (p.Lys1006fs) rs1301129751 0.00001
NM_181882.3(PRX):c.3099_3100del (p.Glu1034fs) rs1474525486 0.00001
NM_181882.3(PRX):c.3208C>T (p.Arg1070Ter) rs104894708 0.00001
NM_181882.3(PRX):c.3371C>G (p.Ser1124Ter) rs2514800211 0.00001
NM_181882.3(PRX):c.607C>T (p.Gln203Ter) rs2079456028 0.00001
NC_000019.10:g.(?_40403696)_(40403872_?)del
NC_000019.9:g.(?_40913793)_(40913839_?)del
NM_181882.3(PRX):c.1001_1022del (p.Gly334fs) rs1163615607
NM_181882.3(PRX):c.1171del (p.Leu391fs) rs2145731305
NM_181882.3(PRX):c.1552_1562delinsT (p.Pro518fs) rs2514806399
NM_181882.3(PRX):c.1574del (p.Val525fs) rs752095452
NM_181882.3(PRX):c.1657del (p.Glu553fs) rs2514806102
NM_181882.3(PRX):c.1659_1660del (p.Glu553fs) rs2079441396
NM_181882.3(PRX):c.165_177dup (p.Gln60fs) rs1599662669
NM_181882.3(PRX):c.1782_1783insTTCCTGAGATGAAA (p.Leu595delinsPheLeuArgTer)
NM_181882.3(PRX):c.1999del (p.Leu667fs) rs2514804861
NM_181882.3(PRX):c.2050C>T (p.Gln684Ter) rs1252279085
NM_181882.3(PRX):c.205C>T (p.Arg69Ter) rs2079467367
NM_181882.3(PRX):c.2180_2181del (p.Ile727fs) rs2514804225
NM_181882.3(PRX):c.2252C>G (p.Ser751Ter)
NM_181882.3(PRX):c.2289del (p.Asp765fs) rs797045102
NM_181882.3(PRX):c.2301del (p.Leu768fs) rs2514803711
NM_181882.3(PRX):c.231C>A (p.Tyr77Ter) rs752192677
NM_181882.3(PRX):c.231C>G (p.Tyr77Ter) rs752192677
NM_181882.3(PRX):c.2362A>T (p.Lys788Ter) rs2514803553
NM_181882.3(PRX):c.2447C>G (p.Ser816Ter)
NM_181882.3(PRX):c.2775_2776insT (p.Lys926Ter) rs1599652316
NM_181882.3(PRX):c.2787del (p.Lys930fs) rs754521978
NM_181882.3(PRX):c.2815_2816del (p.Ser939fs) rs2145727806
NM_181882.3(PRX):c.2993_3000del (p.Leu998fs) rs1231723888
NM_181882.3(PRX):c.3054del (p.Arg1020fs) rs1210940629
NM_181882.3(PRX):c.3098del (p.Thr1033fs) rs2145727241
NM_181882.3(PRX):c.3157del (p.Asp1053fs)
NM_181882.3(PRX):c.3275del (p.Val1092fs) rs2514800557
NM_181882.3(PRX):c.3286_3356del (p.Ile1096fs) rs1555800610
NM_181882.3(PRX):c.353del (p.Lys118fs) rs1568710514
NM_181882.3(PRX):c.458del (p.Pro153fs) rs1599656851
NM_181882.3(PRX):c.586C>T (p.Arg196Ter) rs104894706
NM_181882.3(PRX):c.627del (p.Ala210fs) rs1599656507
NM_181882.3(PRX):c.642dup (p.Arg215fs) rs768074428
NM_181882.3(PRX):c.667del (p.Val223fs)
NM_181882.3(PRX):c.773_774dup (p.Ser259fs) rs1599656136

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