ClinVar Miner

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

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Gene type:
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Total variants: 120
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HGVS dbSNP
NM_020956.2(PRX):c.*1044C>T rs557355077
NM_020956.2(PRX):c.*1053T>G rs776556523
NM_020956.2(PRX):c.*1080_*1111del rs1599655871
NM_020956.2(PRX):c.*1097C>T rs185112635
NM_020956.2(PRX):c.*1120_*1128dup rs1170437868
NM_020956.2(PRX):c.*1127A>G rs753330520
NM_020956.2(PRX):c.*1129A>T rs1599655829
NM_020956.2(PRX):c.*1132T>G rs1599655820
NM_020956.2(PRX):c.*1295C>T rs144183238
NM_020956.2(PRX):c.*1399_*1402del rs1599655206
NM_020956.2(PRX):c.*1427C>T rs150244426
NM_020956.2(PRX):c.*1779T>C rs149715830
NM_020956.2(PRX):c.*1790A>G rs767098112
NM_020956.2(PRX):c.*1844C>T rs1254691308
NM_020956.2(PRX):c.*1919G>A rs370979792
NM_020956.2(PRX):c.*2033G>A rs537664679
NM_020956.2(PRX):c.*2156G>A rs3814290
NM_020956.2(PRX):c.*2249G>T rs761277865
NM_020956.2(PRX):c.*2303del rs281865062
NM_020956.2(PRX):c.*2498G>T rs541455813
NM_020956.2(PRX):c.*2669G>A rs772009400
NM_020956.2(PRX):c.*2753C>G rs141686828
NM_020956.2(PRX):c.*2756_*2757TC[1] rs1599652748
NM_020956.2(PRX):c.*2895G>A rs752531623
NM_020956.2(PRX):c.*2949A>T rs899773763
NM_020956.2(PRX):c.*3024G>A rs1322545345
NM_020956.2(PRX):c.*3114G>A rs764162630
NM_020956.2(PRX):c.*3204C>T rs765924621
NM_020956.2(PRX):c.*3216C>T rs996865233
NM_020956.2(PRX):c.*3391G>T rs139188673
NM_020956.2(PRX):c.*3395C>T rs937051533
NM_020956.2(PRX):c.*3476G>A rs368459753
NM_020956.2(PRX):c.*3785C>G rs149732789
NM_020956.2(PRX):c.*3861C>T rs201393544
NM_020956.2(PRX):c.*3927G>A rs139120811
NM_020956.2(PRX):c.*3977_*3978delinsA rs1599650427
NM_020956.2(PRX):c.*4222C>A rs758057597
NM_020956.2(PRX):c.*4317G>A rs377009047
NM_020956.2(PRX):c.*4343C>T rs771840476
NM_020956.2(PRX):c.*4424T>G rs146468976
NM_020956.2(PRX):c.*4506G>A rs759435622
NM_020956.2(PRX):c.*4512G>A rs368827070
NM_020956.2(PRX):c.*4538A>G rs368067072
NM_020956.2(PRX):c.*590_*599dup rs1599656972
NM_020956.2(PRX):c.*705G>A rs757322355
NM_020956.2(PRX):c.*705G>C rs757322355
NM_020956.2(PRX):c.*707C>T rs374193988
NM_020956.2(PRX):c.*744C>T rs540526276
NM_020956.2(PRX):c.*791C>T rs104894706
NM_020956.2(PRX):c.*794G>T rs753857146
NM_020956.2(PRX):c.*887C>G rs751238438
NM_020956.2(PRX):c.*887C>T rs751238438
NM_020956.2(PRX):c.*921C>T rs528907584
NM_020956.2(PRX):c.*978_*979dup rs1599656136
NM_020956.2(PRX):c.116_117del (p.Lys39fs) rs1599662861
NM_020956.2(PRX):c.133C>G (p.Arg45Gly) rs115090201
NM_020956.2(PRX):c.145G>T (p.Glu49Ter) rs1024162447
NM_020956.2(PRX):c.281_283del (p.Phe94del) rs1424434006
NM_020956.2(PRX):c.361C>T (p.Arg121Trp) rs750435566
NM_020956.2(PRX):c.379C>T (p.Leu127=) rs886054441
NM_181882.3(PRX):c.10A>G (p.Arg4Gly) rs0
NM_181882.3(PRX):c.1136A>C (p.Lys379Thr) rs0
NM_181882.3(PRX):c.1206G>T (p.Glu402Asp) rs0
NM_181882.3(PRX):c.1333C>G (p.Pro445Ala) rs0
NM_181882.3(PRX):c.1468C>T (p.Arg490Trp) rs0
NM_181882.3(PRX):c.1490C>T (p.Pro497Leu) rs0
NM_181882.3(PRX):c.1490_1491delinsTG (p.Pro497Leu) rs0
NM_181882.3(PRX):c.158C>A (p.Ala53Asp) rs0
NM_181882.3(PRX):c.1672G>A (p.Glu558Lys) rs0
NM_181882.3(PRX):c.1678T>C (p.Ser560Pro) rs0
NM_181882.3(PRX):c.1684G>A (p.Val562Met) rs0
NM_181882.3(PRX):c.1797A>T (p.Lys599Asn) rs0
NM_181882.3(PRX):c.17G>T (p.Arg6Leu) rs0
NM_181882.3(PRX):c.182A>G (p.Glu61Gly) rs0
NM_181882.3(PRX):c.1834G>A (p.Ala612Thr) rs0
NM_181882.3(PRX):c.2173C>T (p.Pro725Ser) rs0
NM_181882.3(PRX):c.2245A>C (p.Lys749Gln) rs0
NM_181882.3(PRX):c.2252C>T (p.Ser751Leu) rs0
NM_181882.3(PRX):c.2297T>C (p.Val766Ala) rs0
NM_181882.3(PRX):c.2421del (p.Lys808fs) rs1599652935
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) rs0
NM_181882.3(PRX):c.2707A>G (p.Ile903Val) rs941768924
NM_181882.3(PRX):c.2816C>T (p.Ser939Leu) rs0
NM_181882.3(PRX):c.2908C>T (p.Arg970Trp) rs0
NM_181882.3(PRX):c.3060G>T (p.Arg1020Ser) rs0
NM_181882.3(PRX):c.3099del (p.Glu1034fs) rs1599651707
NM_181882.3(PRX):c.3239G>A (p.Arg1080His) rs0
NM_181882.3(PRX):c.3241G>A (p.Ala1081Thr) rs0
NM_181882.3(PRX):c.3322G>A (p.Glu1108Lys) rs0
NM_181882.3(PRX):c.335_340del (p.Val112_Ser113del) rs0
NM_181882.3(PRX):c.3374G>T (p.Gly1125Val) rs0
NM_181882.3(PRX):c.3424G>A (p.Gly1142Arg) rs0
NM_181882.3(PRX):c.3715G>T (p.Gly1239Cys) rs0
NM_181882.3(PRX):c.3767T>G (p.Val1256Gly) rs0
NM_181882.3(PRX):c.3809G>A (p.Arg1270His) rs0
NM_181882.3(PRX):c.381+22C>A rs1316795222
NM_181882.3(PRX):c.3857G>A (p.Gly1286Asp) rs0
NM_181882.3(PRX):c.3873C>G (p.Tyr1291Ter) rs765769524
NM_181882.3(PRX):c.3901G>A (p.Gly1301Arg) rs0
NM_181882.3(PRX):c.3920G>C (p.Arg1307Pro) rs0
NM_181882.3(PRX):c.3925C>G (p.Pro1309Ala) rs754692947
NM_181882.3(PRX):c.3928C>T (p.Arg1310Trp) rs0
NM_181882.3(PRX):c.4097G>A (p.Gly1366Glu) rs0
NM_181882.3(PRX):c.4180G>A (p.Glu1394Lys) rs0
NM_181882.3(PRX):c.4186G>A (p.Asp1396Asn) rs566745894
NM_181882.3(PRX):c.4199A>G (p.Lys1400Arg) rs0
NM_181882.3(PRX):c.4274G>C (p.Ser1425Thr) rs0
NM_181882.3(PRX):c.4312C>G (p.Pro1438Ala) rs770666481
NM_181882.3(PRX):c.4335_4336del (p.Ala1447fs) rs0
NM_181882.3(PRX):c.44A>G (p.Glu15Gly) rs0
NM_181882.3(PRX):c.556C>T (p.Arg186Trp) rs0
NM_181882.3(PRX):c.574C>T (p.Arg192Trp) rs0
NM_181882.3(PRX):c.617G>A (p.Arg206Gln) rs0
NM_181882.3(PRX):c.642dup (p.Arg215fs) rs768074428
NM_181882.3(PRX):c.680C>T (p.Ala227Val) rs0
NM_181882.3(PRX):c.730del (p.Ala244fs) rs1599656243
NM_181882.3(PRX):c.832_861del (p.Pro278_Ala287del) rs0
NM_181882.3(PRX):c.944G>A (p.Arg315Gln) rs577197549

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