ClinVar Miner

List of variants studied for Charcot-Marie-Tooth disease type 4 by Illumina Laboratory Services, Illumina

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ClinVar version:
Total variants: 84
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HGVS dbSNP gnomAD frequency
NM_001370298.3(FGD4):c.*3920del rs144034303 0.09005
NM_030962.4(SBF2):c.777G>A (p.Pro259=) rs142261202 0.00102
NM_024577.4(SH3TC2):c.*9969_*9972del rs113518050 0.00048
NM_016156.6(MTMR2):c.*1888del rs775823662 0.00029
NM_001370298.3(FGD4):c.*5484T>C rs577630567 0.00025
NM_181882.3(PRX):c.-20A>C rs780315081 0.00015
NM_024577.4(SH3TC2):c.3049G>A (p.Ala1017Thr) rs186029710 0.00013
NM_024577.4(SH3TC2):c.31C>T (p.Arg11Trp) rs149762843 0.00013
NM_024577.4(SH3TC2):c.*12088_*12091del rs886060127 0.00011
NM_024577.4(SH3TC2):c.*19989G>A rs560779315 0.00011
NM_024577.4(SH3TC2):c.*21395T>C rs886060094 0.00009
NM_181882.3(PRX):c.4111C>T (p.Arg1371Trp) rs753339248 0.00009
NM_024577.4(SH3TC2):c.*7269A>G rs763490898 0.00006
NM_024577.4(SH3TC2):c.*1942del rs886060183 0.00003
NM_024577.4(SH3TC2):c.*3411C>T rs886060178 0.00003
NM_024577.4(SH3TC2):c.*932T>A rs886060186 0.00003
NM_024577.4(SH3TC2):c.*9980_*9981insTATT rs1554119372 0.00003
NM_016156.6(MTMR2):c.*2357T>C rs886048762 0.00002
NM_016156.6(MTMR2):c.1450A>G (p.Ile484Val) rs886048771 0.00002
NM_024577.4(SH3TC2):c.*5747C>T rs886060166 0.00002
NM_001370298.3(FGD4):c.*5177G>A rs777896036 0.00001
NM_006096.4(NDRG1):c.855+14_855+15del rs780070007 0.00001
NM_024577.4(SH3TC2):c.*12469T>A rs886060122 0.00001
NM_001370298.3(FGD4):c.*2928_*2931del rs549931906
NM_001370298.3(FGD4):c.*3113TA[4] rs57627640
NM_001370298.3(FGD4):c.*3113TA[6] rs57627640
NM_001370298.3(FGD4):c.*3148del rs797002948
NM_001370298.3(FGD4):c.*3894_*3895del rs780175220
NM_001370298.3(FGD4):c.*4369dup rs35874340
NM_001370298.3(FGD4):c.*4772dup rs567814235
NM_001370298.3(FGD4):c.167-62037C>A rs79370524
NM_006096.4(NDRG1):c.498C>A (p.Asn166Lys) rs1856400076
NM_006096.4(NDRG1):c.64-20dup rs756038946
NM_014845.6(FIG4):c.*150_*151del rs886060986
NM_016156.6(MTMR2):c.*1100_*1103dup rs886048767
NM_016156.6(MTMR2):c.*1226_*1228del rs142663762
NM_016156.6(MTMR2):c.*1343_*1344del rs886048765
NM_016156.6(MTMR2):c.*345CT[1] rs762396029
NM_016156.6(MTMR2):c.184_186del (p.Arg62del) rs141498429
NM_016156.6(MTMR2):c.186+5624TTTTA[6] rs112378876
NM_024577.4(SH3TC2):c.*10051ACCA[13] rs57301725
NM_024577.4(SH3TC2):c.*10051ACCA[14] rs57301725
NM_024577.4(SH3TC2):c.*10051ACCA[16] rs57301725
NM_024577.4(SH3TC2):c.*10111_*10114del rs777886659
NM_024577.4(SH3TC2):c.*12108_*12110del rs35182601
NM_024577.4(SH3TC2):c.*12109_*12110dup rs35182601
NM_024577.4(SH3TC2):c.*12110dup rs35182601
NM_024577.4(SH3TC2):c.*12111_*12112insAA rs886060126
NM_024577.4(SH3TC2):c.*12114dup rs886060125
NM_024577.4(SH3TC2):c.*147A>T rs147796833
NM_024577.4(SH3TC2):c.*15311del rs886060114
NM_024577.4(SH3TC2):c.*16856CA[21] rs71957589
NM_024577.4(SH3TC2):c.*16856CA[22] rs71957589
NM_024577.4(SH3TC2):c.*16856CA[24] rs71957589
NM_024577.4(SH3TC2):c.*16856CA[26] rs71957589
NM_024577.4(SH3TC2):c.*18483dup rs536826583
NM_024577.4(SH3TC2):c.*1946_*1947del rs397883732
NM_024577.4(SH3TC2):c.*19563_*19564dup rs5872105
NM_024577.4(SH3TC2):c.*19564dup rs5872105
NM_024577.4(SH3TC2):c.*20919_*20920del rs886060096
NM_024577.4(SH3TC2):c.*2141C>T rs535223944
NM_024577.4(SH3TC2):c.*21474AAAC[2] rs146796490
NM_024577.4(SH3TC2):c.*22552_*22553dup rs55932017
NM_024577.4(SH3TC2):c.*22553del rs55932017
NM_024577.4(SH3TC2):c.*22553dup rs55932017
NM_024577.4(SH3TC2):c.*4183T>C rs886060176
NM_024577.4(SH3TC2):c.*5279del rs573168274
NM_024577.4(SH3TC2):c.*5634C>A rs565468168
NM_024577.4(SH3TC2):c.*6563_*6564del rs368030230
NM_024577.4(SH3TC2):c.*6870ACA[1] rs567997802
NM_024577.4(SH3TC2):c.*7016ATATT[1] rs886060164
NM_024577.4(SH3TC2):c.*7189C>G rs886060163
NM_024577.4(SH3TC2):c.*839del rs886060189
NM_024577.4(SH3TC2):c.*8424CT[7] rs146811206
NM_024577.4(SH3TC2):c.*8424CT[9] rs146811206
NM_024577.4(SH3TC2):c.*858_*861del rs5872107
NM_024577.4(SH3TC2):c.*8622del rs562125931
NM_024577.4(SH3TC2):c.*862del rs886060188
NM_024577.4(SH3TC2):c.*862dup rs886060187
NM_024577.4(SH3TC2):c.*9121del rs886060149
NM_024577.4(SH3TC2):c.*9974ATCC[11] rs201323132
NM_024577.4(SH3TC2):c.*9974ATCC[14] rs201323132
NM_024577.4(SH3TC2):c.1233_1235dup (p.His411dup) rs886060198
NM_030962.4(SBF2):c.2611-35AATC[4] rs202029370

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