ClinVar Miner

List of variants reported as uncertain significance for Charcot-Marie-Tooth disease by Genesis Genome Database

Included ClinVar conditions (138):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 230
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HGVS dbSNP
NM_000304.4(PMP22):c.*83del rs1222938795
NM_000304.4(PMP22):c.248_250TCT[1] (p.Phe84del) rs1597607920
NM_000304.4(PMP22):c.281del (p.Gly94fs) rs80338763
NM_000304.4(PMP22):c.317C>A (p.Ala106Asp) rs1597607537
NM_000304.4(PMP22):c.319+16T>G rs751416357
NM_000304.4(PMP22):c.476G>C (p.Arg159Pro) rs773478255
NM_000399.5(EGR2):c.1075C>T (p.Arg359Trp) rs104894161
NM_000399.5(EGR2):c.1142G>A (p.Arg381His) rs281865137
NM_000399.5(EGR2):c.1198_1199TG[1] (p.Cys400_Asp401delinsTer) rs1589080408
NM_000399.5(EGR2):c.941A>C (p.His314Pro) rs768808272
NM_000530.8(MPZ):c.241C>T (p.His81Tyr) rs281865123
NM_000530.8(MPZ):c.487G>C (p.Gly163Arg) rs281865128
NM_000530.8(MPZ):c.550C>G (p.Leu184Val) rs1571818032
NM_000530.8(MPZ):c.551del (p.Leu184fs) rs1571818021
NM_001113491.2(SEPTIN9):c.1423C>A (p.Gln475Lys) rs750807119
NM_001113491.2(SEPTIN9):c.1476+2T>G rs918808795
NM_001113491.2(SEPTIN9):c.1480A>G (p.Met494Val) rs1598472570
NM_001113491.2(SEPTIN9):c.1707C>A (p.Ser569Arg) rs1598484143
NM_001113491.2(SEPTIN9):c.1751C>T (p.Pro584Leu) rs753322947
NM_001113491.2(SEPTIN9):c.19+4829C>A rs1598462622
NM_001113491.2(SEPTIN9):c.216A>C (p.Glu72Asp) rs760234906
NM_001113491.2(SEPTIN9):c.538G>A (p.Ala180Thr) rs199861986
NM_001113491.2(SEPTIN9):c.614C>G (p.Ala205Gly) rs1598317173
NM_001113491.2(SEPTIN9):c.637C>T (p.Pro213Ser) rs1598317232
NM_001113491.2(SEPTIN9):c.722-6324del rs1598433427
NM_001113491.2(SEPTIN9):c.722-6334T>C rs752934838
NM_001113491.2(SEPTIN9):c.722-6589G>C rs202206729
NM_001113491.2(SEPTIN9):c.722-6624T>C rs746223748
NM_001113491.2(SEPTIN9):c.722-7T>C rs770521896
NM_001113491.2(SEPTIN9):c.751G>T (p.Asp251Tyr) rs536822441
NM_001113491.2(SEPTIN9):c.913+62_913+64delinsAGT rs1598444764
NM_001127660.1(MFN2):c.1306_1308GAG[1] (p.Glu437del) rs766213721
NM_001127660.1(MFN2):c.617C>T (p.Thr206Ile) rs119103266
NM_001136473.1(LITAF):c.*116G>A rs371453151
NM_001136473.1(LITAF):c.*149C>A rs571908546
NM_001136473.1(LITAF):c.*17-48C>A rs752383184
NM_001136473.1(LITAF):c.*173C>T rs768639690
NM_001136473.1(LITAF):c.*57G>C rs754821950
NM_001136473.1(LITAF):c.409_412inv (p.Arg137_Ser138delinsCysGly)
NM_001136473.1(LITAF):c.86T>G (p.Val29Gly) rs201352515
NM_001303256.3(MORC2):c.1033G>A (p.Glu345Lys) rs750686775
NM_001303256.3(MORC2):c.1217C>T (p.Ala406Val) rs1602485728
NM_001303256.3(MORC2):c.1229T>G (p.Val410Gly) rs766871664
NM_001303256.3(MORC2):c.1369+8_1369+9del rs1602485471
NM_001303256.3(MORC2):c.158-4A>T rs763187520
NM_001303256.3(MORC2):c.227-8C>G rs773796930
NM_001303256.3(MORC2):c.260C>T (p.Ser87Leu) rs864309504
NM_001303256.3(MORC2):c.707A>G (p.Glu236Gly) rs886037934
NM_001303256.3(MORC2):c.743A>G (p.Tyr248Cys) rs1355363942
NM_001303256.3(MORC2):c.754C>T (p.Arg252Trp) rs864309503
NM_001365951.3(KIF1B):c.2115+6205C>G rs771399291
NM_001365951.3(KIF1B):c.2115+6385G>A rs1569773823
NM_001365951.3(KIF1B):c.2115+6425T>C rs778186347
NM_001365951.3(KIF1B):c.2115+6548G>A rs781257253
NM_001365951.3(KIF1B):c.2115+7103A>G rs756513840
NM_001365951.3(KIF1B):c.2115+7159A>G rs1569777868
NM_001365951.3(KIF1B):c.2115+7161C>A rs766794209
NM_001365951.3(KIF1B):c.2115+7308A>C rs772349989
NM_001365951.3(KIF1B):c.3020G>A (p.Arg1007His) rs145494902
NM_001365951.3(KIF1B):c.398A>G (p.Asn133Ser) rs1569614217
NM_001365951.3(KIF1B):c.3991G>T (p.Asp1331Tyr) rs766990936
NM_001365951.3(KIF1B):c.4165C>A (p.Leu1389Ile) rs1569897794
NM_001365951.3(KIF1B):c.4516G>A (p.Glu1506Lys) rs754226097
NM_001365951.3(KIF1B):c.4525dup (p.Arg1509fs) rs377576958
NM_001365951.3(KIF1B):c.5419T>C (p.Ser1807Pro) rs1569935737
NM_001365951.3(KIF1B):c.65A>G (p.Lys22Arg) rs762280202
NM_001376.5(DYNC1H1):c.11402A>C (p.Tyr3801Ser) rs1595629587
NM_001376.5(DYNC1H1):c.11416A>C (p.Thr3806Pro) rs1595629612
NM_001376.5(DYNC1H1):c.11618G>C (p.Arg3873Pro) rs745812006
NM_001376.5(DYNC1H1):c.12763C>G (p.Arg4255Gly) rs770105370
NM_001376.5(DYNC1H1):c.12767T>G (p.Val4256Gly) rs1298640455
NM_001376.5(DYNC1H1):c.13088A>C (p.Lys4363Thr) rs141925609
NM_001376.5(DYNC1H1):c.13166A>G (p.His4389Arg) rs1206639344
NM_001376.5(DYNC1H1):c.13565C>T (p.Thr4522Ile) rs1595637702
NM_001376.5(DYNC1H1):c.13795G>A (p.Glu4599Lys) rs753454594
NM_001376.5(DYNC1H1):c.13912C>T (p.Arg4638Trp) rs200224597
NM_001376.5(DYNC1H1):c.3845T>G (p.Ile1282Arg) rs1479995920
NM_001376.5(DYNC1H1):c.6023T>G (p.Val2008Gly) rs1595613980
NM_001376.5(DYNC1H1):c.6222-4C>T rs1382280530
NM_001376.5(DYNC1H1):c.6406-4G>A rs374602014
NM_001376.5(DYNC1H1):c.6728G>T (p.Arg2243Ile) rs1595615102
NM_001376.5(DYNC1H1):c.7979T>G (p.Val2660Gly) rs201272954
NM_001376.5(DYNC1H1):c.9331A>G (p.Ser3111Gly) rs1595623556
NM_001376.5(DYNC1H1):c.9703G>C (p.Ala3235Pro) rs199966256
NM_001376.5(DYNC1H1):c.9858A>C (p.Glu3286Asp) rs756906168
NM_001540.5(HSPB1):c.365-67C>T rs1583965825
NM_001540.5(HSPB1):c.365-6C>G rs200902768
NM_001540.5(HSPB1):c.523C>T (p.Gln175Ter) rs863225023
NM_001540.5(HSPB1):c.572_584del (p.Leu191fs) rs771457306
NM_001605.2(AARS1):c.1949A>G (p.Lys650Arg) rs142233951
NM_001605.2(AARS1):c.2129C>T (p.Pro710Leu) rs754391789
NM_001605.3(AARS1):c.1138G>T (p.Val380Leu) rs1597440700
NM_001605.3(AARS1):c.205G>C (p.Ala69Pro) rs767533880
NM_001605.3(AARS1):c.773A>G (p.Tyr258Cys) rs1597442205
NM_002047.4(GARS1):c.1171C>T (p.Arg391Cys) rs370057212
NM_002047.4(GARS1):c.130A>C (p.Ile44Leu) rs1584017371
NM_002047.4(GARS1):c.1403A>C (p.Asp468Ala) rs1584043561
NM_002047.4(GARS1):c.1754T>C (p.Met585Thr) rs374378925
NM_002047.4(GARS1):c.1809+10_1809+12del rs747338292
NM_002047.4(GARS1):c.1905G>A (p.Ser635=) rs773889809
NM_002047.4(GARS1):c.2044C>A (p.His682Asn) rs1437642803
NM_002047.4(GARS1):c.44C>T (p.Ala15Val) rs758037738
NM_002047.4(GARS1):c.548T>C (p.Leu183Pro) rs137852644
NM_002180.2(IGHMBP2):c.1121T>C (p.Ile374Thr) rs1193634362
NM_002180.2(IGHMBP2):c.1236-6G>A rs201538340
NM_002180.2(IGHMBP2):c.1523C>T (p.Ser508Leu) rs754465226
NM_002180.2(IGHMBP2):c.1708C>T (p.Arg570Ter) rs1000091588
NM_002180.2(IGHMBP2):c.1714_1716del (p.Lys572del) rs775542203
NM_002180.2(IGHMBP2):c.1813C>T (p.Arg605Ter) rs991227431
NM_002180.2(IGHMBP2):c.2362C>T (p.Arg788Ter) rs199839840
NM_002180.2(IGHMBP2):c.2561A>G (p.Gln854Arg) rs1300949116
NM_002180.2(IGHMBP2):c.2713G>A (p.Gly905Ser) rs772387164
NM_002180.2(IGHMBP2):c.2770C>T (p.His924Tyr) rs1594458556
NM_002180.2(IGHMBP2):c.277G>A (p.Asp93Asn) rs200897747
NM_002180.2(IGHMBP2):c.83G>A (p.Arg28His) rs892885630
NM_002180.3(IGHMBP2):c.1062T>G (p.Gly354=) rs1161757831
NM_002180.3(IGHMBP2):c.1235+1076G>A rs762272501
NM_002180.3(IGHMBP2):c.1586_1587GT[3] (p.Pro531fs) rs1594453023
NM_002180.3(IGHMBP2):c.1924T>C (p.Tyr642His) rs1413846126
NM_002180.3(IGHMBP2):c.2665G>C (p.Ala889Pro) rs1594458354
NM_002180.3(IGHMBP2):c.2773del (p.His925fs) rs1594458566
NM_002180.3(IGHMBP2):c.2777T>C (p.Leu926Pro) rs1594458574
NM_002180.3(IGHMBP2):c.2789A>G (p.His930Arg) rs1594459783
NM_002180.3(IGHMBP2):c.596C>T (p.Ala199Val) rs780802298
NM_002180.3(IGHMBP2):c.742G>A (p.Val248Met) rs201112136
NM_002180.3(IGHMBP2):c.978_982AAGAA[1] (p.Lys328fs) rs746581714
NM_004637.6(RAB7A):c.331del (p.Ser111fs) rs1576303712
NM_006158.4(NEFL):c.1179G>C (p.Leu393Phe) rs879253927
NM_006158.4(NEFL):c.1462G>A (p.Glu488Lys) rs773570365
NM_006158.4(NEFL):c.293A>G (p.Asn98Ser) rs58982919
NM_006158.4(NEFL):c.794A>G (p.Tyr265Cys) rs587777880
NM_006158.5(NEFL):c.1037C>A (p.Ala346Asp) rs368370291
NM_006158.5(NEFL):c.1169+3G>A rs1209043497
NM_006158.5(NEFL):c.1236C>A (p.Tyr412Ter) rs746267609
NM_006158.5(NEFL):c.1330A>C (p.Thr444Pro) rs201455550
NM_006158.5(NEFL):c.1413del (p.Ser472fs) rs11300136
NM_006158.5(NEFL):c.1414del (p.Ser472fs) rs780764641
NM_006158.5(NEFL):c.280C>T (p.Leu94Phe) rs1586128912
NM_014365.3(HSPB8):c.25T>C (p.Ser9Pro) rs774233360
NM_014365.3(HSPB8):c.506C>T (p.Pro169Leu) rs1592932892
NM_014845.5(FIG4):c.1880C>A (p.Thr627Lys) rs770831509
NM_014845.5(FIG4):c.2460-8A>G rs201965891
NM_014845.6(FIG4):c.1073C>G (p.Ala358Gly) rs776185371
NM_014845.6(FIG4):c.1474C>T (p.Arg492Cys) rs747284213
NM_014845.6(FIG4):c.2376+2T>C rs756308787
NM_014845.6(FIG4):c.2552C>T (p.Pro851Leu) rs201375273
NM_014845.6(FIG4):c.447-3dup rs11377100
NM_014845.6(FIG4):c.617A>G (p.Asp206Gly) rs1583663645
NM_014845.6(FIG4):c.645C>T (p.Ser215=) rs751619327
NM_014874.3(MFN2):c.1078C>G (p.Gln360Glu) rs1064795818
NM_014874.3(MFN2):c.1085C>T (p.Thr362Met) rs387906991
NM_014874.3(MFN2):c.1090C>T (p.Arg364Trp) rs119103265
NM_014874.3(MFN2):c.1709A>G (p.Asn570Ser) rs376925978
NM_014874.3(MFN2):c.1724G>A (p.Arg575His) rs564375950
NM_014874.3(MFN2):c.2219G>C (p.Trp740Ser) rs28940292
NM_014874.3(MFN2):c.271G>T (p.Val91Leu) rs1557519001
NM_014874.3(MFN2):c.281G>A (p.Arg94Gln) rs28940291
NM_014874.3(MFN2):c.707C>T (p.Thr236Met) rs773159585
NM_014874.3(MFN2):c.725A>G (p.His242Arg) rs863224065
NM_014874.3(MFN2):c.748C>T (p.Arg250Trp) rs373107074
NM_014874.4(MFN2):c.1138C>T (p.His380Tyr) rs1433849760
NM_014874.4(MFN2):c.1287+2T>G rs758721984
NM_014874.4(MFN2):c.1556G>A (p.Arg519His) rs373809750
NM_014874.4(MFN2):c.1759C>T (p.Pro587Ser) rs771675874
NM_014874.4(MFN2):c.2047A>C (p.Asn683His) rs1569871862
NM_014874.4(MFN2):c.272T>G (p.Val91Gly) rs1569816262
NM_014874.4(MFN2):c.298G>T (p.Ala100Ser) rs1569816496
NM_014874.4(MFN2):c.430G>A (p.Ala144Thr) rs1569830238
NM_014874.4(MFN2):c.472A>C (p.Lys158Gln) rs1569830408
NM_014874.4(MFN2):c.708+5CTC[2] rs863224842
NM_014874.4(MFN2):c.718T>C (p.Phe240Leu) rs1557525005
NM_014874.4(MFN2):c.796G>C (p.Glu266Gln) rs1569844113
NM_015074.3(KIF1B):c.1977+6213G>T rs587777883
NM_018972.4(GDAP1):c.1066A>G (p.Asn356Asp) rs765609133
NM_018972.4(GDAP1):c.112C>T (p.Gln38Ter) rs761035569
NM_018972.4(GDAP1):c.248G>C (p.Gly83Ala) rs371138642
NM_018972.4(GDAP1):c.368A>G (p.His123Arg) rs397515442
NM_018972.4(GDAP1):c.487C>T (p.Gln163Ter) rs104894077
NM_018972.4(GDAP1):c.692C>T (p.Pro231Leu) rs121908114
NM_018972.4(GDAP1):c.767A>G (p.His256Arg) rs1476856429
NM_018972.4(GDAP1):c.786del (p.Phe263fs) rs1060500978
NM_018972.4(GDAP1):c.919A>G (p.Thr307Ala) rs1356175561
NM_020956.2(PRX):c.*1053T>G rs776556523
NM_020956.2(PRX):c.*1307C>T rs104894715
NM_020956.2(PRX):c.*3413C>T rs104894708
NM_020956.2(PRX):c.*3476G>A rs368459753
NM_020956.2(PRX):c.*3927G>A rs139120811
NM_020956.2(PRX):c.*921C>T rs528907584
NM_020956.2(PRX):c.379C>T (p.Leu127=) rs886054441
NM_021625.4(TRPV4):c.2320C>T (p.Arg774Cys) rs145102919
NM_021625.4(TRPV4):c.947G>A (p.Arg316His) rs387906905
NM_021625.4(TRPV4):c.958C>T (p.Arg320Ter) rs142902080
NM_021625.5(TRPV4):c.1529G>A (p.Arg510Gln) rs1191951496
NM_021625.5(TRPV4):c.409G>C (p.Ala137Pro) rs1592853492
NM_024577.3(SH3TC2):c.*882G>A rs775429372
NM_024577.3(SH3TC2):c.1194_1195delinsCC (p.Phe399Leu) rs1554121791
NM_024577.3(SH3TC2):c.1402_1403delinsTT (p.Ala468Phe) rs863224780
NM_024577.3(SH3TC2):c.1586G>A (p.Arg529His) rs80338923
NM_024577.3(SH3TC2):c.1897del (p.Ala633fs) rs1064797314
NM_024577.3(SH3TC2):c.1969G>A (p.Glu657Lys) rs80338925
NM_024577.3(SH3TC2):c.2552G>A (p.Arg851Gln) rs751621364
NM_024577.3(SH3TC2):c.2642A>G (p.Asn881Ser) rs80338930
NM_024577.3(SH3TC2):c.3160C>T (p.His1054Tyr) rs769133498
NM_024577.3(SH3TC2):c.3512G>T (p.Arg1171Leu) rs200728983
NM_024577.3(SH3TC2):c.830C>T (p.Thr277Met) rs757969875
NM_024577.4(SH3TC2):c.*858_*862del rs1561755591
NM_024577.4(SH3TC2):c.*861dup rs5872107
NM_024577.4(SH3TC2):c.1813C>T (p.Arg605Cys) rs778936762
NM_024577.4(SH3TC2):c.1894G>A (p.Glu632Lys) rs1580900765
NM_024577.4(SH3TC2):c.2228C>G (p.Ala743Gly) rs974346945
NM_024577.4(SH3TC2):c.280-1334dup rs752479043
NM_024577.4(SH3TC2):c.3292A>C (p.Thr1098Pro) rs77636085
NM_024577.4(SH3TC2):c.3295dup (p.Arg1099fs) rs1580889900
NM_024577.4(SH3TC2):c.3325C>T (p.Arg1109Ter) rs80338934
NM_024577.4(SH3TC2):c.54dup (p.Lys19Ter) rs1580917136
NM_138361.5(LRSAM1):c.1142G>A (p.Arg381Gln) rs145877456
NM_138361.5(LRSAM1):c.1775A>C (p.His592Pro) rs1039132247
NM_138361.5(LRSAM1):c.2005G>T (p.Glu669Ter) rs1588143112
NM_138361.5(LRSAM1):c.2047-3C>T rs1588144581
NM_138361.5(LRSAM1):c.2134_2145del (p.Asp712_Gln715del) rs1588144737
NM_138361.5(LRSAM1):c.86G>C (p.Gly29Ala) rs142846298
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.2707A>G (p.Ile903Val) rs941768924
NM_181882.3(PRX):c.381+22C>A rs1316795222
NM_181882.3(PRX):c.3873C>G (p.Tyr1291Ter) rs765769524
NM_181882.3(PRX):c.3925C>G (p.Pro1309Ala) rs754692947
NM_181882.3(PRX):c.4059_4061GGA[6] (p.Glu1361del) rs139624657
NM_181882.3(PRX):c.4186G>A (p.Asp1396Asn) rs566745894
NM_181882.3(PRX):c.4312C>G (p.Pro1438Ala) rs770666481

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