ClinVar Miner

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

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Gene type:
ClinVar version:
Total variants: 210
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HGVS dbSNP
NM_020956.2(PRX):c.*1028C>A rs200033507
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.*1198G>A rs146323928
NM_020956.2(PRX):c.*1256C>T rs73933276
NM_020956.2(PRX):c.*1295C>T rs144183238
NM_020956.2(PRX):c.*1334G>T rs754081921
NM_020956.2(PRX):c.*1399_*1402del rs1599655206
NM_020956.2(PRX):c.*1421G>A rs117336941
NM_020956.2(PRX):c.*1427C>T rs150244426
NM_020956.2(PRX):c.*1486C>T rs76960467
NM_020956.2(PRX):c.*1688G>C rs146789340
NM_020956.2(PRX):c.*1705A>G rs777104457
NM_020956.2(PRX):c.*1779T>C rs149715830
NM_020956.2(PRX):c.*1783G>A rs567690884
NM_020956.2(PRX):c.*1790A>G rs767098112
NM_020956.2(PRX):c.*1830G>A rs139586219
NM_020956.2(PRX):c.*1844C>T rs1254691308
NM_020956.2(PRX):c.*1856G>A rs61733448
NM_020956.2(PRX):c.*1919G>A rs370979792
NM_020956.2(PRX):c.*2032C>T rs751816156
NM_020956.2(PRX):c.*2033G>A rs537664679
NM_020956.2(PRX):c.*2069C>T rs1210729449
NM_020956.2(PRX):c.*2156G>A rs3814290
NM_020956.2(PRX):c.*2169C>T rs118003416
NM_020956.2(PRX):c.*2222A>G rs61735531
NM_020956.2(PRX):c.*2248C>T rs56743160
NM_020956.2(PRX):c.*2249G>T rs761277865
NM_020956.2(PRX):c.*2303del rs281865062
NM_020956.2(PRX):c.*2306G>A rs116855701
NM_020956.2(PRX):c.*2350T>A rs104894707
NM_020956.2(PRX):c.*2459G>A rs147587689
NM_020956.2(PRX):c.*2498G>T rs541455813
NM_020956.2(PRX):c.*2512G>A rs148655811
NM_020956.2(PRX):c.*2669G>A rs772009400
NM_020956.2(PRX):c.*2674G>A rs61733450
NM_020956.2(PRX):c.*2753C>G rs141686828
NM_020956.2(PRX):c.*2846C>A rs375201649
NM_020956.2(PRX):c.*2850T>C rs268671
NM_020956.2(PRX):c.*2860T>C rs268672
NM_020956.2(PRX):c.*2895G>A rs752531623
NM_020956.2(PRX):c.*2932C>T rs61735546
NM_020956.2(PRX):c.*2949A>T rs899773763
NM_020956.2(PRX):c.*2968A>G rs268673
NM_020956.2(PRX):c.*2980C>T rs201792838
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.*3423A>G rs61733451
NM_020956.2(PRX):c.*3453C>G rs3745202
NM_020956.2(PRX):c.*3476G>A rs368459753
NM_020956.2(PRX):c.*3491_*3561del rs1555800610
NM_020956.2(PRX):c.*3578G>A rs148939995
NM_020956.2(PRX):c.*3599G>A rs268674
NM_020956.2(PRX):c.*3701C>T rs147826200
NM_020956.2(PRX):c.*3785C>G rs149732789
NM_020956.2(PRX):c.*3861C>T rs201393544
NM_020956.2(PRX):c.*3907C>T rs139950446
NM_020956.2(PRX):c.*3913G>A rs202119177
NM_020956.2(PRX):c.*3927G>A rs139120811
NM_020956.2(PRX):c.*3977_*3978delinsA rs1599650427
NM_020956.2(PRX):c.*4007G>C rs146061247
NM_020956.2(PRX):c.*4036C>G rs577796628
NM_020956.2(PRX):c.*4051G>A rs143289108
NM_020956.2(PRX):c.*4144G>A rs140109585
NM_020956.2(PRX):c.*4152C>T rs142762689
NM_020956.2(PRX):c.*4222C>A rs758057597
NM_020956.2(PRX):c.*4249G>C rs76088917
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.*650G>A rs142436391
NM_020956.2(PRX):c.*676G>A rs4803335
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.*745G>A rs371243093
NM_020956.2(PRX):c.*759G>A rs76756143
NM_020956.2(PRX):c.*791C>T rs104894706
NM_020956.2(PRX):c.*794G>T rs753857146
NM_020956.2(PRX):c.*802C>T rs144157275
NM_020956.2(PRX):c.*847C>A rs551628239
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.*936C>T rs118071705
NM_020956.2(PRX):c.*952C>T rs3814289
NM_020956.2(PRX):c.*978_*979dup rs1599656136
NM_020956.2(PRX):c.*999G>T rs374837022
NM_020956.2(PRX):c.-20A>C rs780315081
NM_020956.2(PRX):c.116_117del (p.Lys39fs) rs1599662861
NM_020956.2(PRX):c.124_125dup (p.Phe43fs) rs1599662837
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.165_177dup (p.Gln60fs) rs1599662669
NM_020956.2(PRX):c.281_283del (p.Phe94del) rs1424434006
NM_020956.2(PRX):c.306C>T (p.Thr102=) rs744389
NM_020956.2(PRX):c.336G>A (p.Val112=) rs369268369
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.1077C>G (p.Arg359=)
NM_181882.3(PRX):c.10A>G (p.Arg4Gly)
NM_181882.3(PRX):c.1113A>G (p.Glu371=) rs137930942
NM_181882.3(PRX):c.1136A>C (p.Lys379Thr)
NM_181882.3(PRX):c.1173del (p.Arg392fs) rs757771239
NM_181882.3(PRX):c.1206G>T (p.Glu402Asp)
NM_181882.3(PRX):c.121_122insAAGCTGCGCGAG (p.Gly41_Ile42insGluAlaAlaArg)
NM_181882.3(PRX):c.122_124delinsAAGCTGCGCGAGGAAGCTGC (p.Gly41fs)
NM_181882.3(PRX):c.122del (p.Gly41fs)
NM_181882.3(PRX):c.124_125insGCTGC (p.Ile42fs)
NM_181882.3(PRX):c.1333C>G (p.Pro445Ala)
NM_181882.3(PRX):c.1468C>T (p.Arg490Trp)
NM_181882.3(PRX):c.1490C>T (p.Pro497Leu)
NM_181882.3(PRX):c.1490_1491delinsTG (p.Pro497Leu)
NM_181882.3(PRX):c.1491C>G (p.Pro497=) rs1224453835
NM_181882.3(PRX):c.158C>A (p.Ala53Asp)
NM_181882.3(PRX):c.1638A>G (p.Val546=)
NM_181882.3(PRX):c.1672G>A (p.Glu558Lys)
NM_181882.3(PRX):c.1678T>C (p.Ser560Pro)
NM_181882.3(PRX):c.1684G>A (p.Val562Met)
NM_181882.3(PRX):c.1695A>G (p.Pro565=)
NM_181882.3(PRX):c.1695A>T (p.Pro565=)
NM_181882.3(PRX):c.1797A>T (p.Lys599Asn)
NM_181882.3(PRX):c.17G>T (p.Arg6Leu)
NM_181882.3(PRX):c.1818G>A (p.Pro606=)
NM_181882.3(PRX):c.182A>G (p.Glu61Gly)
NM_181882.3(PRX):c.1834G>A (p.Ala612Thr)
NM_181882.3(PRX):c.1836C>A (p.Ala612=)
NM_181882.3(PRX):c.1857A>G (p.Pro619=)
NM_181882.3(PRX):c.1950C>T (p.Pro650=)
NM_181882.3(PRX):c.1986C>T (p.Val662=)
NM_181882.3(PRX):c.2173C>T (p.Pro725Ser)
NM_181882.3(PRX):c.2245A>C (p.Lys749Gln)
NM_181882.3(PRX):c.2252C>T (p.Ser751Leu)
NM_181882.3(PRX):c.2295C>T (p.Asp765=)
NM_181882.3(PRX):c.2297T>C (p.Val766Ala)
NM_181882.3(PRX):c.2400G>A (p.Lys800=)
NM_181882.3(PRX):c.2421del (p.Lys808fs) rs1599652935
NM_181882.3(PRX):c.2424G>A (p.Lys808=)
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)
NM_181882.3(PRX):c.2649G>A (p.Glu883=)
NM_181882.3(PRX):c.2707A>G (p.Ile903Val) rs941768924
NM_181882.3(PRX):c.2715C>A (p.Thr905=) rs188765166
NM_181882.3(PRX):c.2724G>T (p.Leu908=)
NM_181882.3(PRX):c.2816C>T (p.Ser939Leu)
NM_181882.3(PRX):c.2857C>T (p.Arg953Ter) rs104894714
NM_181882.3(PRX):c.2908C>T (p.Arg970Trp)
NM_181882.3(PRX):c.2T>C (p.Met1Thr)
NM_181882.3(PRX):c.300G>A (p.Val100=)
NM_181882.3(PRX):c.3060G>T (p.Arg1020Ser)
NM_181882.3(PRX):c.3099del (p.Glu1034fs) rs1599651707
NM_181882.3(PRX):c.3195C>T (p.Ser1065=)
NM_181882.3(PRX):c.3239G>A (p.Arg1080His)
NM_181882.3(PRX):c.3241G>A (p.Ala1081Thr)
NM_181882.3(PRX):c.3322G>A (p.Glu1108Lys)
NM_181882.3(PRX):c.335_340del (p.Val112_Ser113del)
NM_181882.3(PRX):c.3374G>T (p.Gly1125Val)
NM_181882.3(PRX):c.3423G>A (p.Ala1141=)
NM_181882.3(PRX):c.3424G>A (p.Gly1142Arg)
NM_181882.3(PRX):c.3519A>C (p.Thr1173=)
NM_181882.3(PRX):c.3715G>T (p.Gly1239Cys)
NM_181882.3(PRX):c.3767T>G (p.Val1256Gly)
NM_181882.3(PRX):c.3768G>T (p.Val1256=)
NM_181882.3(PRX):c.3809G>A (p.Arg1270His)
NM_181882.3(PRX):c.381+22C>A rs1316795222
NM_181882.3(PRX):c.3857G>A (p.Gly1286Asp)
NM_181882.3(PRX):c.3873C>G (p.Tyr1291Ter) rs765769524
NM_181882.3(PRX):c.3901G>A (p.Gly1301Arg)
NM_181882.3(PRX):c.3920G>C (p.Arg1307Pro)
NM_181882.3(PRX):c.3925C>G (p.Pro1309Ala) rs754692947
NM_181882.3(PRX):c.3928C>T (p.Arg1310Trp)
NM_181882.3(PRX):c.4003C>T (p.Arg1335Ter)
NM_181882.3(PRX):c.4059GGA[5] (p.Glu1360_Glu1361del) rs139624657
NM_181882.3(PRX):c.4059GGA[8] (p.Glu1361dup) rs139624657
NM_181882.3(PRX):c.4097G>A (p.Gly1366Glu)
NM_181882.3(PRX):c.4146C>T (p.Gly1382=)
NM_181882.3(PRX):c.4180G>A (p.Glu1394Lys)
NM_181882.3(PRX):c.4186G>A (p.Asp1396Asn) rs566745894
NM_181882.3(PRX):c.4199A>G (p.Lys1400Arg)
NM_181882.3(PRX):c.4274G>C (p.Ser1425Thr)
NM_181882.3(PRX):c.4312C>G (p.Pro1438Ala) rs770666481
NM_181882.3(PRX):c.4335_4336del (p.Ala1447fs)
NM_181882.3(PRX):c.44A>G (p.Glu15Gly)
NM_181882.3(PRX):c.556C>T (p.Arg186Trp)
NM_181882.3(PRX):c.574C>T (p.Arg192Trp)
NM_181882.3(PRX):c.617G>A (p.Arg206Gln)
NM_181882.3(PRX):c.642dup (p.Arg215fs) rs768074428
NM_181882.3(PRX):c.680C>T (p.Ala227Val)
NM_181882.3(PRX):c.717G>T (p.Pro239=) rs761293957
NM_181882.3(PRX):c.730del (p.Ala244fs) rs1599656243
NM_181882.3(PRX):c.832_861del (p.Pro278_Ala287del)
NM_181882.3(PRX):c.861C>T (p.Ala287=)
NM_181882.3(PRX):c.944G>A (p.Arg315Gln) rs577197549

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