ClinVar Miner

List of variants reported as likely pathogenic for Charcot-Marie-Tooth disease by Invitae

Included ClinVar conditions (137):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 79
Download table as spreadsheet
HGVS dbSNP
NC_000005.9:g.(?_110077728)_(110083984_?)dup
NC_000007.14:g.(?_76303782)_(76304193_?)del
NC_000009.12:g.(?_127502764)_(127502909_?)del
NC_000011.10:g.(?_9780408)_(10042991_?)del
NM_000263.4(NAGLU):c.1946G>A (p.Trp649Ter) rs527236038
NM_000263.4(NAGLU):c.2116C>T (p.Gln706Ter) rs752527478
NM_000263.4(NAGLU):c.531+1G>A
NM_001005360.2(DNM2):c.1463C>G (p.Thr488Arg) rs746903992
NM_001136473.1(LITAF):c.344C>A (p.Thr115Asn) rs104894520
NM_001190716.2(DNM2):c.1072G>A (p.Gly358Arg) rs267606772
NM_001303256.3(MORC2):c.707A>G (p.Glu236Gly) rs886037934
NM_001376.5(DYNC1H1):c.10160T>C (p.Leu3387Pro) rs1567019064
NM_001376.5(DYNC1H1):c.1678G>A (p.Val560Met)
NM_001540.5(HSPB1):c.165_171dup (p.Leu58fs) rs748762287
NM_001540.5(HSPB1):c.438dup (p.Gly147fs)
NM_001540.5(HSPB1):c.522_523delinsCT (p.Gln175Ter) rs1060503021
NM_001540.5(HSPB1):c.532G>T (p.Glu178Ter) rs150110356
NM_002180.2(IGHMBP2):c.1060G>A (p.Gly354Ser) rs886043773
NM_002180.2(IGHMBP2):c.1633-2A>G rs1566445029
NM_002180.2(IGHMBP2):c.1693G>A (p.Asp565Asn) rs770111639
NM_002180.2(IGHMBP2):c.1738G>A (p.Val580Ile) rs137852667
NM_002180.2(IGHMBP2):c.257-2A>G rs1566424655
NM_002180.2(IGHMBP2):c.2T>C (p.Met1Thr) rs886037759
NM_002180.2(IGHMBP2):c.547+1G>A rs1057518588
NM_002180.2(IGHMBP2):c.791G>T (p.Arg264Leu) rs777575504
NM_002180.3(IGHMBP2):c.1236-1G>T
NM_005340.7(HINT1):c.2T>C (p.Met1Thr) rs1580686455
NM_006096.3(NDRG1):c.326+1G>A rs1586446057
NM_006096.4(NDRG1):c.450+2_450+3del
NM_006096.4(NDRG1):c.595-2A>T
NM_006096.4(NDRG1):c.891+2T>C
NM_006158.4(NEFL):c.796G>A (p.Glu266Lys) rs1411999109
NM_014845.5(FIG4):c.498-2A>G rs1554300952
NM_014845.6(FIG4):c.1749_1750+7del
NM_014845.6(FIG4):c.1890-2A>G
NM_014845.6(FIG4):c.447-2A>C
NM_016156.5(MTMR2):c.804+1G>C rs1565351898
NM_016156.5(MTMR2):c.804+2T>G rs1555061026
NM_016156.5(MTMR2):c.993+1G>A rs1555060614
NM_018972.4(GDAP1):c.311-1790_408del
NM_018972.4(GDAP1):c.376G>A (p.Glu126Lys) rs879254005
NM_018972.4(GDAP1):c.458C>T (p.Pro153Leu) rs538412810
NM_018972.4(GDAP1):c.811G>A (p.Gly271Arg) rs775622226
NM_020631.5(PLEKHG5):c.440-2A>G rs144750655
NM_020956.2(PRX):c.*3491_*3561del rs1555800610
NM_021625.4(TRPV4):c.557G>A (p.Arg186Gln) rs397514494
NM_021625.4(TRPV4):c.710G>T (p.Arg237Leu) rs1289139464
NM_021625.4(TRPV4):c.832G>A (p.Glu278Lys) rs267607148
NM_021629.4(GNB4):c.158G>A (p.Gly53Asp) rs387907340
NM_021629.4(GNB4):c.169A>G (p.Lys57Glu)
NM_021629.4(GNB4):c.265A>G (p.Lys89Glu) rs387907341
NM_022489.4(INF2):c.314T>A (p.Val105Glu) rs1555373363
NM_024577.3(SH3TC2):c.1585_1587delinsTGG (p.Arg529Trp) rs863224781
NM_024577.3(SH3TC2):c.279+1G>A rs1198337036
NM_024577.3(SH3TC2):c.280-2A>G rs1561770798
NM_024577.3(SH3TC2):c.3054-2A>C rs1580891465
NM_024577.3(SH3TC2):c.3328-1G>T rs1554120331
NM_024577.3(SH3TC2):c.3511C>T (p.Arg1171Cys) rs759785462
NM_024577.3(SH3TC2):c.385+2T>C rs773554464
NM_024577.3(SH3TC2):c.529+1G>A rs769410348
NM_024577.3(SH3TC2):c.806-1G>A rs1554122560
NM_024577.4(SH3TC2):c.386-2A>C rs145670786
NM_030962.3(SBF2):c.1297-2A>G rs752649372
NM_030962.3(SBF2):c.1929+15398_2137del
NM_030962.3(SBF2):c.3110+2_3110+4delinsGAG
NM_030962.3(SBF2):c.3653-1G>A
NM_030962.3(SBF2):c.5037+1G>C
NM_138361.5(LRSAM1):c.1043+1G>A
NM_138361.5(LRSAM1):c.1043+2T>G rs746455518
NM_138361.5(LRSAM1):c.1348-1G>A rs747659617
NM_138361.5(LRSAM1):c.1978_1979dup (p.Pro661fs)
NM_138361.5(LRSAM1):c.2003_2015del (p.Leu668fs) rs876661208
NM_138361.5(LRSAM1):c.2005G>T (p.Glu669Ter) rs1588143112
NM_138361.5(LRSAM1):c.2102del (p.Gln701fs) rs1554763035
NM_138361.5(LRSAM1):c.847_1088+563del
NM_138773.4(SLC25A46):c.799_800dup (p.Thr268fs)
NM_139241.3(FGD4):c.1833_1902+238delinsGGAGG
NM_181882.3(PRX):c.184+2T>C
NM_201278.3(MTMR2):c.1662_1663AG[6] (p.Ala557fs) rs751292488

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.