ClinVar Miner

List of variants reported as benign for Charcot-Marie-Tooth disease dominant intermediate B by Invitae

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 40
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HGVS dbSNP gnomAD frequency
NM_001005361.3(DNM2):c.2139T>C (p.Ala713=) rs2229920 0.30148
NM_001005361.3(DNM2):c.1077C>T (p.Gly359=) rs112238216 0.02416
NM_001005361.3(DNM2):c.2484G>A (p.Pro828=) rs114682382 0.01064
NM_001005361.3(DNM2):c.235+12C>A rs147026993 0.00953
NM_001005361.3(DNM2):c.1782-11C>T rs78580529 0.00921
NM_001005361.3(DNM2):c.235+6A>G rs113192269 0.00748
NM_001005361.3(DNM2):c.1196+773C>T rs150975494 0.00628
NM_001005361.3(DNM2):c.2543+7C>G rs201979143 0.00364
NM_001005361.3(DNM2):c.236-8C>G rs143084059 0.00361
NM_001005361.3(DNM2):c.519T>C (p.Ala173=) rs77702567 0.00359
NM_001005361.3(DNM2):c.1545+14C>G rs114713494 0.00350
NM_001005361.3(DNM2):c.190G>A (p.Val64Ile) rs144250390 0.00243
NM_001005361.3(DNM2):c.1781+17C>A rs75344643 0.00220
NM_001005361.3(DNM2):c.643G>A (p.Asp215Asn) rs145478270 0.00168
NM_001005361.3(DNM2):c.2160C>T (p.Asp720=) rs117598326 0.00163
NM_001005361.3(DNM2):c.1902C>T (p.Asn634=) rs2229919 0.00149
NM_001005361.3(DNM2):c.386-6T>A rs114623441 0.00118
NM_001005361.3(DNM2):c.1782-5C>T rs200103145 0.00113
NM_001005361.3(DNM2):c.2061G>A (p.Thr687=) rs149164657 0.00102
NM_001005361.3(DNM2):c.2059-5C>T rs377150057 0.00078
NM_001005361.3(DNM2):c.788C>T (p.Pro263Leu) rs3745674 0.00043
NM_001005361.3(DNM2):c.1493+12T>C rs200489732 0.00036
NM_001005361.3(DNM2):c.589+17G>T rs374377836 0.00028
NM_001005361.3(DNM2):c.2511G>A (p.Arg837=) rs200100669 0.00027
NM_001005361.3(DNM2):c.2567G>A (p.Ser856Asn) rs149825590 0.00021
NM_001005361.3(DNM2):c.789G>A (p.Pro263=) rs199976453 0.00014
NM_001005361.3(DNM2):c.2059-20T>G rs765782246 0.00012
NM_001005361.3(DNM2):c.1196+711A>T rs186762327 0.00011
NM_001005361.3(DNM2):c.666C>T (p.Asn222=) rs2229921 0.00008
NM_001005361.3(DNM2):c.1558-7C>A rs184310103 0.00006
NM_001005361.3(DNM2):c.450A>G (p.Pro150=) rs766121627 0.00006
NM_001005361.3(DNM2):c.543G>A (p.Leu181=) rs374823728 0.00006
NM_001005361.3(DNM2):c.2201A>G (p.Asn734Ser) rs577767034 0.00001
NM_001005361.3(DNM2):c.1128+12dup
NM_001005361.3(DNM2):c.1196+643C>T rs563985581
NM_001005361.3(DNM2):c.162-7C>A rs148318860
NM_001005361.3(DNM2):c.162-7dup
NM_001005361.3(DNM2):c.1782-5del rs760441017
NM_001005361.3(DNM2):c.1782-5dup rs760441017
NM_001005361.3(DNM2):c.386-6T>C rs114623441

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