ClinVar Miner

List of variants studied for Charcot-Marie-Tooth disease by Institute of Human Genetics, University of Leipzig Medical Center

Included ClinVar conditions (172):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 51
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HGVS dbSNP gnomAD frequency
NM_000304.4(PMP22):c.353C>T (p.Thr118Met) rs104894619 0.00378
NM_024577.4(SH3TC2):c.505T>C (p.Tyr169His) rs80359890 0.00205
NM_024577.4(SH3TC2):c.2860C>T (p.Arg954Ter) rs80338933 0.00067
NM_030962.4(SBF2):c.3290C>A (p.Thr1097Asn) rs141894081 0.00054
NM_014874.4(MFN2):c.2119C>T (p.Arg707Trp) rs119103267 0.00029
NM_000530.8(MPZ):c.428C>T (p.Thr143Met) rs750724650 0.00004
NM_002437.5(MPV17):c.376-9T>G rs368900406 0.00002
NM_007289.4(MME):c.307C>T (p.Arg103Cys) rs765422392 0.00002
NM_002047.4(GARS1):c.1660G>A (p.Asp554Asn) rs137852647 0.00001
NM_003680.4(YARS1):c.1373C>T (p.Pro458Leu) rs762042274 0.00001
NM_006096.4(NDRG1):c.442C>T (p.Arg148Ter) rs119483085 0.00001
NM_006158.5(NEFL):c.1037C>A (p.Ala346Asp) rs368370291 0.00001
NM_006158.5(NEFL):c.298C>T (p.Arg100Cys) rs1803053166 0.00001
NM_014365.3(HSPB8):c.584G>A (p.Cys195Tyr) rs778223243 0.00001
GRCh37/hg19 17p12(chr17:14095256-15492591)x3
GRCh37/hg19 17p12(chr17:14096089-15492591)x3
NM_000166.6(GJB1):c.467T>A (p.Leu156His) rs104894818
NM_000166.6(GJB1):c.514C>G (p.Pro172Ala) rs104894811
NM_000166.6(GJB1):c.619G>C (p.Ala207Pro) rs2147946898
NM_000166.6(GJB1):c.643C>T (p.Arg215Trp) rs879254099
NM_000166.6(GJB1):c.646G>A (p.Ala216Thr) rs2147947019
NM_000166.6(GJB1):c.73C>T (p.Leu25Phe) rs1602348662
NM_000530.8(MPZ):c.127G>A (p.Gly43Ser) rs1670288209
NM_000530.8(MPZ):c.306del (p.Asp104fs) rs281865125
NM_000530.8(MPZ):c.371C>T (p.Thr124Met) rs121913595
NM_001005373.4(LRSAM1):c.2120C>T (p.Pro707Leu) rs797044913
NM_001127173.3(CADM3):c.383del
NM_001136472.2(LITAF):c.334G>A (p.Gly112Ser) rs104894519
NM_001303256.3(MORC2):c.996G>T (p.Leu332Phe) rs769996010
NM_001365088.1(SLC12A6):c.1843G>C (p.Ala615Pro)
NM_001376.5(DYNC1H1):c.10031G>A (p.Arg3344Gln) rs397509412
NM_001376.5(DYNC1H1):c.11417C>T (p.Thr3806Ile) rs2048613478
NM_001376.5(DYNC1H1):c.8216C>T (p.Pro2739Leu) rs866647743
NM_001376.5(DYNC1H1):c.917A>G (p.His306Arg) rs387906738
NM_001376.5(DYNC1H1):c.9331A>G (p.Ser3111Gly) rs1595623556
NM_001540.5(HSPB1):c.379C>T (p.Arg127Trp) rs29001571
NM_002047.4(GARS1):c.647A>G (p.His216Arg) rs768987322
NM_004208.4(AIFM1):c.322CAGAAA[1] (p.108QK[1]) rs2030881306
NM_006158.5(NEFL):c.259C>T (p.Arg87Cys)
NM_007289.4(MME):c.467del (p.Pro156fs) rs749320057
NM_014874.4(MFN2):c.1160+1G>A rs1553144086
NM_014874.4(MFN2):c.494A>G (p.His165Arg) rs863224970
NM_014874.4(MFN2):c.695C>G (p.Thr232Ser) rs1569842764
NM_014874.4(MFN2):c.781G>C (p.Asp261His) rs2100832682
NM_014874.4(MFN2):c.827A>G (p.Gln276Arg) rs119103264
NM_018972.4(GDAP1):c.182G>A (p.Ser61Asn) rs1808861763
NM_021625.5(TRPV4):c.710G>A (p.Arg237Gln) rs1289139464
NM_022489.4(INF2):c.2406C>G (p.His802Gln) rs1453244138
NM_024577.4(SH3TC2):c.1894_1897delinsAAA (p.Glu632fs) rs1580900758
NM_030962.4(SBF2):c.161G>A (p.Trp54Ter) rs1166873755
NM_030962.4(SBF2):c.2329del (p.Trp777fs)

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