ClinVar Miner

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

Included ClinVar conditions (130):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 55
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HGVS dbSNP
NC_000005.9:g.(?_110077728)_(110083984_?)dup
NC_000007.13:g.(?_75933099)_(75933510_?)del
NC_000007.13:g.(?_75933119)_(75933490_?)del
NC_000011.9:g.(?_9801955)_(10064538_?)del
NM_000263.4(NAGLU):c.1900G>A (p.Glu634Lys) rs147036053
NM_000263.4(NAGLU):c.1946G>A (p.Trp649Ter)
NM_001005360.2(DNM2):c.1463C>G (p.Thr488Arg)
NM_001005360.2(DNM2):c.1609G>A (p.Gly537Ser) rs121909093
NM_001005360.2(DNM2):c.1853C>A (p.Ala618Asp) rs1555715869
NM_001136473.1(LITAF):c.331G>A (p.Ala111Thr)
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.752G>A (p.Arg251His) rs794727634
NM_001540.5(HSPB1):c.407G>T (p.Arg136Leu) rs863225022
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.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_005340.7(HINT1):c.2T>C (p.Met1Thr)
NM_006096.3(NDRG1):c.326+1G>A
NM_006158.4(NEFL):c.796G>A (p.Glu266Lys) rs1411999109
NM_014845.5(FIG4):c.498-2A>G rs1554300952
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.1019dup (p.Arg341fs) rs756461496
NM_018972.4(GDAP1):c.311-1790_408del
NM_018972.4(GDAP1):c.399G>A (p.Met133Ile) rs139808557
NM_018972.4(GDAP1):c.458C>T (p.Pro153Leu) rs538412810
NM_020631.5(PLEKHG5):c.440-2A>G rs144750655
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_022489.4(INF2):c.314T>A (p.Val105Glu) rs1555373363
NM_024577.3(SH3TC2):c.1972C>T (p.Arg658Cys) rs80338926
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
NM_024577.3(SH3TC2):c.3328-1G>T rs1554120331
NM_024577.3(SH3TC2):c.385+2T>C rs773554464
NM_024577.3(SH3TC2):c.529+1G>A
NM_024577.3(SH3TC2):c.806-1G>A rs1554122560
NM_030962.3(SBF2):c.1297-2A>G
NM_030962.3(SBF2):c.1929+15398_2137del
NM_030962.3(SBF2):c.5037+1G>A rs1060499999
NM_138361.5(LRSAM1):c.1043+2T>G
NM_138361.5(LRSAM1):c.2003_2015del (p.Leu668fs) rs876661208
NM_138361.5(LRSAM1):c.2080T>C (p.Cys694Arg) rs759312530
NM_138361.5(LRSAM1):c.2102del (p.Gln701fs) rs1554763035
NM_138361.5(LRSAM1):c.847_1088+563del

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