ClinVar Miner

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

Included ClinVar conditions (134):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 325
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HGVS dbSNP
NC_000019.9:g.(?_40899863)_(40913849_?)dup
NC_000019.9:g.(?_40909593)_(40909789_?)del
NM_020956.2(PRX):c.*1020C>T
NM_020956.2(PRX):c.*1028C>A rs200033507
NM_020956.2(PRX):c.*1038C>T rs886054440
NM_020956.2(PRX):c.*1044C>T rs557355077
NM_020956.2(PRX):c.*1052G>A
NM_020956.2(PRX):c.*1053T>G rs776556523
NM_020956.2(PRX):c.*1080_*1111del
NM_020956.2(PRX):c.*1120_*1128dup
NM_020956.2(PRX):c.*1127A>G rs753330520
NM_020956.2(PRX):c.*1129A>T
NM_020956.2(PRX):c.*1132T>G
NM_020956.2(PRX):c.*1141A>G rs752086513
NM_020956.2(PRX):c.*1151G>C rs1555801306
NM_020956.2(PRX):c.*1165G>A rs775367319
NM_020956.2(PRX):c.*1171G>T rs139544245
NM_020956.2(PRX):c.*1184del rs1568708792
NM_020956.2(PRX):c.*1197C>T
NM_020956.2(PRX):c.*1199A>G rs143710873
NM_020956.2(PRX):c.*1217del rs1555801290
NM_020956.2(PRX):c.*1218C>T rs1368840723
NM_020956.2(PRX):c.*1224C>T rs780373582
NM_020956.2(PRX):c.*1231A>C rs150772010
NM_020956.2(PRX):c.*1245G>A
NM_020956.2(PRX):c.*1256C>T rs73933276
NM_020956.2(PRX):c.*1292C>G rs886054439
NM_020956.2(PRX):c.*1295C>T
NM_020956.2(PRX):c.*1296G>A
NM_020956.2(PRX):c.*1305C>A rs143400291
NM_020956.2(PRX):c.*1307C>T rs104894715
NM_020956.2(PRX):c.*1346A>C rs1049349860
NM_020956.2(PRX):c.*1349C>G rs759440986
NM_020956.2(PRX):c.*1379C>T rs773009397
NM_020956.2(PRX):c.*1399_*1402del
NM_020956.2(PRX):c.*1416G>A
NM_020956.2(PRX):c.*1420C>T rs377184301
NM_020956.2(PRX):c.*1421G>A rs117336941
NM_020956.2(PRX):c.*1427C>T rs150244426
NM_020956.2(PRX):c.*1460A>T
NM_020956.2(PRX):c.*1486C>T rs76960467
NM_020956.2(PRX):c.*1574G>A rs142064826
NM_020956.2(PRX):c.*1574G>C rs142064826
NM_020956.2(PRX):c.*1592G>T
NM_020956.2(PRX):c.*1595C>T rs574861276
NM_020956.2(PRX):c.*1596G>A rs553211374
NM_020956.2(PRX):c.*1665C>T rs778936443
NM_020956.2(PRX):c.*1666G>A rs757009052
NM_020956.2(PRX):c.*1688G>C rs146789340
NM_020956.2(PRX):c.*1688_*1765del rs1555801137
NM_020956.2(PRX):c.*1705A>G rs777104457
NM_020956.2(PRX):c.*1715C>T rs192607896
NM_020956.2(PRX):c.*1743C>T rs148742209
NM_020956.2(PRX):c.*1751C>T rs144305922
NM_020956.2(PRX):c.*1773T>C rs550446238
NM_020956.2(PRX):c.*1779T>C rs149715830
NM_020956.2(PRX):c.*1783_*1806dup rs764208864
NM_020956.2(PRX):c.*1790A>G
NM_020956.2(PRX):c.*1818T>C rs765791679
NM_020956.2(PRX):c.*1830G>A rs139586219
NM_020956.2(PRX):c.*1844C>T
NM_020956.2(PRX):c.*1856G>A rs61733448
NM_020956.2(PRX):c.*1863A>G rs879254301
NM_020956.2(PRX):c.*1871_*1948del
NM_020956.2(PRX):c.*1919G>A rs370979792
NM_020956.2(PRX):c.*1923A>G rs1289149165
NM_020956.2(PRX):c.*1995A>G
NM_020956.2(PRX):c.*2018C>T rs1555801070
NM_020956.2(PRX):c.*2033G>A rs537664679
NM_020956.2(PRX):c.*2041C>T rs574899855
NM_020956.2(PRX):c.*2042G>A rs773222045
NM_020956.2(PRX):c.*2069C>T
NM_020956.2(PRX):c.*2096C>G rs886054438
NM_020956.2(PRX):c.*2103A>T
NM_020956.2(PRX):c.*2105_*2119del rs575492732
NM_020956.2(PRX):c.*2111C>T rs756785716
NM_020956.2(PRX):c.*2140C>T rs763132536
NM_020956.2(PRX):c.*2156G>A rs3814290
NM_020956.2(PRX):c.*2169C>T rs118003416
NM_020956.2(PRX):c.*2170G>A
NM_020956.2(PRX):c.*2184C>T rs748737580
NM_020956.2(PRX):c.*2204C>G
NM_020956.2(PRX):c.*2222A>G rs61735531
NM_020956.2(PRX):c.*2238T>C rs1568706919
NM_020956.2(PRX):c.*2240C>T
NM_020956.2(PRX):c.*2241G>A rs145856805
NM_020956.2(PRX):c.*2249G>T
NM_020956.2(PRX):c.*2261C>A
NM_020956.2(PRX):c.*2276A>C rs886054437
NM_020956.2(PRX):c.*2282C>G rs758696889
NM_020956.2(PRX):c.*2303del rs281865062
NM_020956.2(PRX):c.*2339C>T
NM_020956.2(PRX):c.*2350T>A rs104894707
NM_020956.2(PRX):c.*2363C>T
NM_020956.2(PRX):c.*2369A>G rs376309142
NM_020956.2(PRX):c.*2414G>A rs1237761863
NM_020956.2(PRX):c.*2420G>A rs779294844
NM_020956.2(PRX):c.*2426C>T
NM_020956.2(PRX):c.*2448C>T rs111252437
NM_020956.2(PRX):c.*2487C>T rs530370432
NM_020956.2(PRX):c.*2490A>G rs202165534
NM_020956.2(PRX):c.*2494del rs797045102
NM_020956.2(PRX):c.*2497C>G rs142637195
NM_020956.2(PRX):c.*2497C>T rs142637195
NM_020956.2(PRX):c.*2498G>A
NM_020956.2(PRX):c.*2498G>T rs541455813
NM_020956.2(PRX):c.*2512G>A rs148655811
NM_020956.2(PRX):c.*2516G>C rs1568706134
NM_020956.2(PRX):c.*2558A>G rs780270731
NM_020956.2(PRX):c.*2645T>C rs201809431
NM_020956.2(PRX):c.*2654C>T rs147441856
NM_020956.2(PRX):c.*2669G>A rs772009400
NM_020956.2(PRX):c.*2739C>T rs750952608
NM_020956.2(PRX):c.*2741C>T rs765595266
NM_020956.2(PRX):c.*2753C>G rs141686828
NM_020956.2(PRX):c.*2756_*2757TC[1]
NM_020956.2(PRX):c.*2778A>G rs1017754371
NM_020956.2(PRX):c.*2810G>A rs1555800819
NM_020956.2(PRX):c.*2825G>A rs145790961
NM_020956.2(PRX):c.*2846C>T rs375201649
NM_020956.2(PRX):c.*2850T>C rs268671
NM_020956.2(PRX):c.*2856G>A rs139005780
NM_020956.2(PRX):c.*2860T>C rs268672
NM_020956.2(PRX):c.*2882G>A rs201270794
NM_020956.2(PRX):c.*2894C>T
NM_020956.2(PRX):c.*2895G>A rs752531623
NM_020956.2(PRX):c.*2932C>T rs61735546
NM_020956.2(PRX):c.*2933G>A rs145203783
NM_020956.2(PRX):c.*2936G>A rs377457671
NM_020956.2(PRX):c.*2949A>T
NM_020956.2(PRX):c.*2951G>C rs775152960
NM_020956.2(PRX):c.*2968A>G rs268673
NM_020956.2(PRX):c.*2980C>T rs201792838
NM_020956.2(PRX):c.*3021C>G rs761769929
NM_020956.2(PRX):c.*3024G>A rs1322545345
NM_020956.2(PRX):c.*3058dup rs1568704829
NM_020956.2(PRX):c.*3059G>C rs1060502972
NM_020956.2(PRX):c.*3081T>C rs1568704784
NM_020956.2(PRX):c.*3114G>A rs764162630
NM_020956.2(PRX):c.*3121G>T rs1555800751
NM_020956.2(PRX):c.*3126_*3146del
NM_020956.2(PRX):c.*3138A>G rs767386430
NM_020956.2(PRX):c.*3182A>T
NM_020956.2(PRX):c.*3204C>T rs765924621
NM_020956.2(PRX):c.*3216C>T
NM_020956.2(PRX):c.*3219_*3220insT rs1301129751
NM_020956.2(PRX):c.*3242G>A rs548086012
NM_020956.2(PRX):c.*3246T>C rs766119564
NM_020956.2(PRX):c.*3299G>A rs772431799
NM_020956.2(PRX):c.*3391G>T rs139188673
NM_020956.2(PRX):c.*3395C>T rs937051533
NM_020956.2(PRX):c.*3413C>T rs104894708
NM_020956.2(PRX):c.*3414G>A rs146222815
NM_020956.2(PRX):c.*3423A>G rs61733451
NM_020956.2(PRX):c.*3425G>A rs886054436
NM_020956.2(PRX):c.*3443C>T rs200045096
NM_020956.2(PRX):c.*3453C>G rs3745202
NM_020956.2(PRX):c.*3476G>A rs368459753
NM_020956.2(PRX):c.*3557G>A rs143654708
NM_020956.2(PRX):c.*3557G>T rs143654708
NM_020956.2(PRX):c.*3581C>A rs1483705612
NM_020956.2(PRX):c.*3599G>A rs268674
NM_020956.2(PRX):c.*3605G>T rs786204203
NM_020956.2(PRX):c.*3621A>G rs1268527552
NM_020956.2(PRX):c.*3623G>A
NM_020956.2(PRX):c.*3624A>T rs923473427
NM_020956.2(PRX):c.*3652C>T
NM_020956.2(PRX):c.*3713G>A
NM_020956.2(PRX):c.*3754C>T rs367876251
NM_020956.2(PRX):c.*3767C>A rs878855284
NM_020956.2(PRX):c.*3767C>T rs878855284
NM_020956.2(PRX):c.*3785C>G rs149732789
NM_020956.2(PRX):c.*3788C>T rs1555800544
NM_020956.2(PRX):c.*3861C>T rs201393544
NM_020956.2(PRX):c.*3907C>T rs139950446
NM_020956.2(PRX):c.*3908G>T rs1385904344
NM_020956.2(PRX):c.*3912C>T
NM_020956.2(PRX):c.*3922C>T
NM_020956.2(PRX):c.*3927G>A rs139120811
NM_020956.2(PRX):c.*3974G>A rs200332462
NM_020956.2(PRX):c.*3977_*3978delinsA
NM_020956.2(PRX):c.*3980G>A rs751742049
NM_020956.2(PRX):c.*4004G>A rs542711361
NM_020956.2(PRX):c.*4007G>A rs146061247
NM_020956.2(PRX):c.*4009C>T rs553825184
NM_020956.2(PRX):c.*4040G>C rs747247972
NM_020956.2(PRX):c.*4050C>T rs753530396
NM_020956.2(PRX):c.*4051G>A rs143289108
NM_020956.2(PRX):c.*4054A>G rs757247849
NM_020956.2(PRX):c.*4058G>A rs374370759
NM_020956.2(PRX):c.*4068A>T rs1568702462
NM_020956.2(PRX):c.*4073G>A rs773955274
NM_020956.2(PRX):c.*4073G>T
NM_020956.2(PRX):c.*4091G>C
NM_020956.2(PRX):c.*4124C>T rs752593001
NM_020956.2(PRX):c.*4140G>T
NM_020956.2(PRX):c.*4152C>T rs142762689
NM_020956.2(PRX):c.*4209G>A
NM_020956.2(PRX):c.*4222C>A
NM_020956.2(PRX):c.*4249G>C rs76088917
NM_020956.2(PRX):c.*4263A>C rs1555800424
NM_020956.2(PRX):c.*4313C>A rs371438221
NM_020956.2(PRX):c.*4314G>A rs756687548
NM_020956.2(PRX):c.*4316C>T rs753339248
NM_020956.2(PRX):c.*4317G>A rs377009047
NM_020956.2(PRX):c.*4320G>T rs751906783
NM_020956.2(PRX):c.*4322C>T rs766729202
NM_020956.2(PRX):c.*4323G>A rs763294661
NM_020956.2(PRX):c.*4324_*4329GGTCCG[3]
NM_020956.2(PRX):c.*4326T>G rs773512610
NM_020956.2(PRX):c.*4334C>T rs768524850
NM_020956.2(PRX):c.*4335G>A rs200835105
NM_020956.2(PRX):c.*4343C>T rs771840476
NM_020956.2(PRX):c.*4362C>A rs372582520
NM_020956.2(PRX):c.*4376C>G rs369072136
NM_020956.2(PRX):c.*4376C>T rs369072136
NM_020956.2(PRX):c.*4401C>T rs764183288
NM_020956.2(PRX):c.*4412G>A rs139051512
NM_020956.2(PRX):c.*4424T>G rs146468976
NM_020956.2(PRX):c.*4429C>G rs1555800370
NM_020956.2(PRX):c.*4436C>T rs533966999
NM_020956.2(PRX):c.*4437G>T
NM_020956.2(PRX):c.*4449_*4451dup rs771234852
NM_020956.2(PRX):c.*4470G>A
NM_020956.2(PRX):c.*4475G>A rs754032938
NM_020956.2(PRX):c.*4475G>C
NM_020956.2(PRX):c.*4506G>A rs759435622
NM_020956.2(PRX):c.*4509T>C rs878855285
NM_020956.2(PRX):c.*4512G>A rs368827070
NM_020956.2(PRX):c.*4523G>A rs138437458
NM_020956.2(PRX):c.*4538A>G rs368067072
NM_020956.2(PRX):c.*4554C>T
NM_020956.2(PRX):c.*4571G>C rs149093940
NM_020956.2(PRX):c.*4581C>T rs373051724
NM_020956.2(PRX):c.*4735C>T rs189487790
NM_020956.2(PRX):c.*4743A>G rs886054435
NM_020956.2(PRX):c.*590_*599dup
NM_020956.2(PRX):c.*662C>T rs760295364
NM_020956.2(PRX):c.*666T>C rs1555801518
NM_020956.2(PRX):c.*674G>A
NM_020956.2(PRX):c.*676G>A rs4803335
NM_020956.2(PRX):c.*683_*697del rs1555801508
NM_020956.2(PRX):c.*690A>C rs879254072
NM_020956.2(PRX):c.*698C>T rs555499679
NM_020956.2(PRX):c.*705G>A
NM_020956.2(PRX):c.*705G>C rs757322355
NM_020956.2(PRX):c.*707C>T rs374193988
NM_020956.2(PRX):c.*708G>A rs763833871
NM_020956.2(PRX):c.*714T>C rs1387520113
NM_020956.2(PRX):c.*744C>T rs540526276
NM_020956.2(PRX):c.*759G>A rs76756143
NM_020956.2(PRX):c.*764C>T rs768929130
NM_020956.2(PRX):c.*791C>T rs104894706
NM_020956.2(PRX):c.*792G>C
NM_020956.2(PRX):c.*794G>T
NM_020956.2(PRX):c.*802C>G rs144157275
NM_020956.2(PRX):c.*802C>T rs144157275
NM_020956.2(PRX):c.*820_*821delinsTT rs1568709522
NM_020956.2(PRX):c.*833G>A
NM_020956.2(PRX):c.*836G>T rs112973322
NM_020956.2(PRX):c.*839C>A rs771156102
NM_020956.2(PRX):c.*846C>G
NM_020956.2(PRX):c.*878G>T
NM_020956.2(PRX):c.*887C>G
NM_020956.2(PRX):c.*887C>T rs751238438
NM_020956.2(PRX):c.*888G>A rs562108874
NM_020956.2(PRX):c.*921C>T rs528907584
NM_020956.2(PRX):c.*923C>T rs199863083
NM_020956.2(PRX):c.*935G>A
NM_020956.2(PRX):c.*936C>T rs118071705
NM_020956.2(PRX):c.*945G>A rs1568709200
NM_020956.2(PRX):c.*976C>T rs1555801357
NM_020956.2(PRX):c.*978_*979dup
NM_020956.2(PRX):c.*999G>T rs374837022
NM_020956.2(PRX):c.-114T>G rs367716653
NM_020956.2(PRX):c.-143G>A rs559995627
NM_020956.2(PRX):c.-160C>T rs763423646
NM_020956.2(PRX):c.-198-14C>T rs886054442
NM_020956.2(PRX):c.-199+7G>C rs541213273
NM_020956.2(PRX):c.-20A>C rs780315081
NM_020956.2(PRX):c.-236G>A rs552436076
NM_020956.2(PRX):c.116_117del (p.Lys39fs)
NM_020956.2(PRX):c.124_125dup (p.Phe43fs)
NM_020956.2(PRX):c.133C>G (p.Arg45Gly) rs115090201
NM_020956.2(PRX):c.13A>G (p.Ser5Gly) rs767350599
NM_020956.2(PRX):c.145G>T (p.Glu49Ter)
NM_020956.2(PRX):c.15C>G (p.Ser5Arg) rs1408677034
NM_020956.2(PRX):c.165_177dup (p.Gln60fs)
NM_020956.2(PRX):c.176T>C (p.Leu59Pro) rs748318191
NM_020956.2(PRX):c.185-6C>T rs747043680
NM_020956.2(PRX):c.185-8G>A rs768814221
NM_020956.2(PRX):c.185-9C>T rs1555801635
NM_020956.2(PRX):c.200G>A (p.Ser67Asn) rs1568710768
NM_020956.2(PRX):c.231C>G (p.Tyr77Ter) rs752192677
NM_020956.2(PRX):c.237C>T (p.Asp79=) rs376174896
NM_020956.2(PRX):c.247del (p.Leu83fs) rs281865061
NM_020956.2(PRX):c.248T>G (p.Leu83Arg)
NM_020956.2(PRX):c.256T>C (p.Cys86Arg) rs765676916
NM_020956.2(PRX):c.281_283del (p.Phe94del) rs1424434006
NM_020956.2(PRX):c.296C>T (p.Thr99Ile) rs561203828
NM_020956.2(PRX):c.306C>T (p.Thr102=) rs744389
NM_020956.2(PRX):c.335T>C (p.Val112Ala)
NM_020956.2(PRX):c.353del (p.Lys118fs) rs1568710514
NM_020956.2(PRX):c.361C>T (p.Arg121Trp) rs750435566
NM_020956.2(PRX):c.379C>T (p.Leu127=) rs886054441
NM_020956.2(PRX):c.62T>C (p.Val21Ala) rs1167676481
NM_020956.2(PRX):c.74C>A (p.Ala25Glu) rs1555802182
NM_020956.2(PRX):c.80C>A (p.Thr27Asn) rs1291881750
NM_181882.3(PRX):c.1173del (p.Arg392fs)
NM_181882.3(PRX):c.2421del (p.Lys808fs)
NM_181882.3(PRX):c.2611G>C (p.Val871Leu)
NM_181882.3(PRX):c.2612T>C (p.Val871Ala)
NM_181882.3(PRX):c.2707A>G (p.Ile903Val)
NM_181882.3(PRX):c.2787del (p.Lys930fs) rs754521978
NM_181882.3(PRX):c.2857C>T (p.Arg953Ter) rs104894714
NM_181882.3(PRX):c.3085A>T (p.Arg1029Ter)
NM_181882.3(PRX):c.3099del (p.Glu1034fs)
NM_181882.3(PRX):c.381+22C>A
NM_181882.3(PRX):c.3873C>G (p.Tyr1291Ter)
NM_181882.3(PRX):c.3925C>G (p.Pro1309Ala)
NM_181882.3(PRX):c.4186G>A (p.Asp1396Asn)
NM_181882.3(PRX):c.4312C>G (p.Pro1438Ala)
NM_181882.3(PRX):c.627del (p.Ala210fs)
NM_181882.3(PRX):c.642dup (p.Arg215fs)
NM_181882.3(PRX):c.730del (p.Ala244fs)

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