ClinVar Miner

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

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Total variants: 115
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HGVS dbSNP gnomAD frequency
NM_181882.3(PRX):c.892C>T (p.Pro298Ser) rs185112635 0.00262
NM_181882.3(PRX):c.1574T>C (p.Val525Ala) rs149715830 0.00136
NM_181882.3(PRX):c.3186G>T (p.Lys1062Asn) rs139188673 0.00105
NM_181882.3(PRX):c.2548C>G (p.Pro850Ala) rs141686828 0.00078
NM_181882.3(PRX):c.361C>T (p.Arg121Trp) rs750435566 0.00029
NM_181882.3(PRX):c.3580C>G (p.Leu1194Val) rs149732789 0.00023
NM_181882.3(PRX):c.500G>C (p.Arg167Pro) rs757322355 0.00019
NM_181882.3(PRX):c.3656C>T (p.Pro1219Leu) rs201393544 0.00017
NM_181882.3(PRX):c.2909G>A (p.Arg970Gln) rs764162630 0.00010
NM_181882.3(PRX):c.3271G>A (p.Ala1091Thr) rs368459753 0.00008
NM_181882.3(PRX):c.4017C>A (p.Ser1339Arg) rs758057597 0.00008
NM_181882.3(PRX):c.574C>T (p.Arg192Trp) rs780147663 0.00008
NM_181882.3(PRX):c.922A>G (p.Thr308Ala) rs753330520 0.00007
NM_181882.3(PRX):c.4112G>A (p.Arg1371Gln) rs377009047 0.00006
NM_181882.3(PRX):c.4307G>A (p.Arg1436Gln) rs368827070 0.00006
NM_181882.3(PRX):c.839C>T (p.Pro280Leu) rs557355077 0.00006
NM_181882.3(PRX):c.1090C>T (p.Arg364Ter) rs144183238 0.00005
NM_181882.3(PRX):c.3239G>A (p.Arg1080His) rs762213719 0.00005
NM_181882.3(PRX):c.3809G>A (p.Arg1270His) rs775221457 0.00005
NM_181882.3(PRX):c.848T>G (p.Val283Gly) rs776556523 0.00005
NM_181882.3(PRX):c.1222C>T (p.Pro408Ser) rs150244426 0.00004
NM_181882.3(PRX):c.1828G>A (p.Glu610Lys) rs537664679 0.00004
NM_181882.3(PRX):c.2464G>A (p.Glu822Lys) rs772009400 0.00004
NM_181882.3(PRX):c.2690G>A (p.Arg897Gln) rs752531623 0.00004
NM_181882.3(PRX):c.4219T>G (p.Ser1407Ala) rs146468976 0.00004
NM_181882.3(PRX):c.4301G>A (p.Arg1434Gln) rs759435622 0.00004
NM_181882.3(PRX):c.4333A>G (p.Thr1445Ala) rs368067072 0.00004
NM_181882.3(PRX):c.1714G>A (p.Val572Met) rs370979792 0.00003
NM_181882.3(PRX):c.2816C>T (p.Ser939Leu) rs761769929 0.00003
NM_181882.3(PRX):c.539C>T (p.Pro180Leu) rs540526276 0.00003
NM_181882.3(PRX):c.589G>T (p.Glu197Ter) rs753857146 0.00003
NM_181882.3(PRX):c.716C>T (p.Pro239Leu) rs528907584 0.00003
NM_181882.3(PRX):c.10A>G (p.Arg4Gly) rs760534109 0.00002
NM_181882.3(PRX):c.1585A>G (p.Lys529Glu) rs767098112 0.00002
NM_181882.3(PRX):c.2707A>G (p.Ile903Val) rs941768924 0.00002
NM_181882.3(PRX):c.2908C>T (p.Arg970Trp) rs369224308 0.00002
NM_181882.3(PRX):c.2999C>T (p.Ala1000Val) rs765924621 0.00002
NM_181882.3(PRX):c.4138C>T (p.Arg1380Cys) rs771840476 0.00002
NM_181882.3(PRX):c.502C>T (p.Arg168Trp) rs374193988 0.00002
NM_181882.3(PRX):c.1136A>C (p.Lys379Thr) rs752783967 0.00001
NM_181882.3(PRX):c.1206G>T (p.Glu402Asp) rs746394555 0.00001
NM_181882.3(PRX):c.1333C>G (p.Pro445Ala) rs201044009 0.00001
NM_181882.3(PRX):c.1468C>T (p.Arg490Trp) rs760423138 0.00001
NM_181882.3(PRX):c.1490C>T (p.Pro497Leu) rs1167411868 0.00001
NM_181882.3(PRX):c.1684G>A (p.Val562Met) rs1234205162 0.00001
NM_181882.3(PRX):c.1797A>T (p.Lys599Asn) rs757931043 0.00001
NM_181882.3(PRX):c.182A>G (p.Glu61Gly) rs779928693 0.00001
NM_181882.3(PRX):c.1834G>A (p.Ala612Thr) rs2079438994 0.00001
NM_181882.3(PRX):c.2173C>T (p.Pro725Ser) rs1387072587 0.00001
NM_181882.3(PRX):c.2245A>C (p.Lys749Gln) rs755014286 0.00001
NM_181882.3(PRX):c.2252C>T (p.Ser751Leu) rs570569581 0.00001
NM_181882.3(PRX):c.3060G>T (p.Arg1020Ser) rs761267361 0.00001
NM_181882.3(PRX):c.3241G>A (p.Ala1081Thr) rs773246710 0.00001
NM_181882.3(PRX):c.381+22C>A rs1316795222 0.00001
NM_181882.3(PRX):c.3901G>A (p.Gly1301Arg) rs749251511 0.00001
NM_181882.3(PRX):c.3925C>G (p.Pro1309Ala) rs754692947 0.00001
NM_181882.3(PRX):c.3928C>T (p.Arg1310Trp) rs751126995 0.00001
NM_181882.3(PRX):c.4180G>A (p.Glu1394Lys) rs1486029743 0.00001
NM_181882.3(PRX):c.4335_4336del (p.Ala1447fs) rs778270475 0.00001
NM_181882.3(PRX):c.556C>T (p.Arg186Trp) rs539484549 0.00001
NM_181882.3(PRX):c.617G>A (p.Arg206Gln) rs765911262 0.00001
NM_181882.3(PRX):c.944G>A (p.Arg315Gln) rs577197549 0.00001
NM_181882.3(PRX):c.1194_1197del (p.Leu400fs) rs1599655206
NM_181882.3(PRX):c.1490_1491delinsTG (p.Pro497Leu) rs2079443969
NM_181882.3(PRX):c.1639C>T (p.Gln547Ter) rs1254691308
NM_181882.3(PRX):c.1672G>A (p.Glu558Lys) rs1318870390
NM_181882.3(PRX):c.1678T>C (p.Ser560Pro) rs1299743311
NM_181882.3(PRX):c.17G>T (p.Arg6Leu) rs774078598
NM_181882.3(PRX):c.1951G>A (p.Asp651Asn) rs3814290
NM_181882.3(PRX):c.2044G>T (p.Glu682Ter) rs761277865
NM_181882.3(PRX):c.2098del (p.Ala700fs) rs281865062
NM_181882.3(PRX):c.2293G>T (p.Asp765Tyr) rs541455813
NM_181882.3(PRX):c.2297T>C (p.Val766Ala) rs1599653064
NM_181882.3(PRX):c.2421del (p.Lys808fs) rs1599652935
NM_181882.3(PRX):c.2553_2556del (p.Thr853fs) rs1599652748
NM_181882.3(PRX):c.2611G>C (p.Val871Leu) rs754359052
NM_181882.3(PRX):c.2612T>C (p.Val871Ala) rs201389706
NM_181882.3(PRX):c.2628G>A (p.Met876Ile) rs1307077953
NM_181882.3(PRX):c.2744A>T (p.Glu915Val) rs899773763
NM_181882.3(PRX):c.2819G>A (p.Gly940Glu) rs1322545345
NM_181882.3(PRX):c.281_283del (p.Phe94del) rs1424434006
NM_181882.3(PRX):c.3011C>T (p.Ser1004Leu) rs996865233
NM_181882.3(PRX):c.3099del (p.Glu1034fs) rs1599651707
NM_181882.3(PRX):c.3190C>T (p.Pro1064Ser) rs937051533
NM_181882.3(PRX):c.3322G>A (p.Glu1108Lys) rs2079418168
NM_181882.3(PRX):c.335_340del (p.Val112_Ser113del) rs1359760408
NM_181882.3(PRX):c.3374G>T (p.Gly1125Val) rs2079417519
NM_181882.3(PRX):c.3424G>A (p.Gly1142Arg) rs778707867
NM_181882.3(PRX):c.3715G>T (p.Gly1239Cys) rs2079412833
NM_181882.3(PRX):c.3722G>A (p.Gly1241Asp) rs139120811
NM_181882.3(PRX):c.3767T>G (p.Val1256Gly) rs2079412133
NM_181882.3(PRX):c.3772_3773delinsA (p.Gly1258fs) rs1599650427
NM_181882.3(PRX):c.379C>T (p.Leu127=) rs886054441
NM_181882.3(PRX):c.3857G>A (p.Gly1286Asp) rs2079410631
NM_181882.3(PRX):c.385_394dup (p.Leu132fs) rs1599656972
NM_181882.3(PRX):c.3873C>G (p.Tyr1291Ter) rs765769524
NM_181882.3(PRX):c.3920G>C (p.Arg1307Pro) rs767394584
NM_181882.3(PRX):c.4097G>A (p.Gly1366Glu) rs748112276
NM_181882.3(PRX):c.4186G>A (p.Asp1396Asn) rs566745894
NM_181882.3(PRX):c.4199A>G (p.Lys1400Arg) rs1296150158
NM_181882.3(PRX):c.4274G>C (p.Ser1425Thr) rs2079404176
NM_181882.3(PRX):c.4312C>G (p.Pro1438Ala) rs770666481
NM_181882.3(PRX):c.500G>A (p.Arg167His) rs757322355
NM_181882.3(PRX):c.586C>T (p.Arg196Ter) rs104894706
NM_181882.3(PRX):c.642dup (p.Arg215fs) rs768074428
NM_181882.3(PRX):c.680C>T (p.Ala227Val) rs532808153
NM_181882.3(PRX):c.682C>G (p.Arg228Gly) rs751238438
NM_181882.3(PRX):c.682C>T (p.Arg228Cys) rs751238438
NM_181882.3(PRX):c.730del (p.Ala244fs) rs1599656243
NM_181882.3(PRX):c.773_774dup (p.Ser259fs) rs1599656136
NM_181882.3(PRX):c.832_861del (p.Pro278_Ala287del) rs2079451762
NM_181882.3(PRX):c.875_906del (p.Val292fs) rs1599655871
NM_181882.3(PRX):c.915_923dup (p.305TLP[3]) rs1170437868
NM_181882.3(PRX):c.924A>T (p.Thr308=) rs1599655829
NM_181882.3(PRX):c.927T>G (p.Leu309=) rs1599655820

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