ClinVar Miner

List of variants reported as likely pathogenic for Charcot-Marie-Tooth disease type 2A2

Included ClinVar conditions (7):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 34
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HGVS dbSNP gnomAD frequency
NM_014874.4(MFN2):c.1403G>A (p.Arg468His) rs138382758 0.00255
NM_014874.4(MFN2):c.892G>A (p.Gly298Arg) rs41278630 0.00221
NM_014874.4(MFN2):c.2119C>T (p.Arg707Trp) rs119103267 0.00029
NM_014874.4(MFN2):c.1987C>T (p.Arg663Cys) rs369762154 0.00011
NM_014874.4(MFN2):c.334G>A (p.Val112Met) rs757937208 0.00002
NM_014874.4(MFN2):c.1083C>G (p.His361Gln) rs1639197832
NM_014874.4(MFN2):c.1091G>T (p.Arg364Leu) rs879254011
NM_014874.4(MFN2):c.1426C>G (p.Arg476Gly) rs1266361856
NM_014874.4(MFN2):c.1946G>C (p.Arg649Pro) rs763492075
NM_014874.4(MFN2):c.2129T>C (p.Leu710Pro) rs1557537223
NM_014874.4(MFN2):c.2171T>C (p.Leu724Pro) rs1557537346
NM_014874.4(MFN2):c.281G>T (p.Arg94Leu)
NM_014874.4(MFN2):c.311G>T (p.Arg104Leu) rs863224068
NM_014874.4(MFN2):c.326A>G (p.Lys109Arg) rs1553142436
NM_014874.4(MFN2):c.382C>T (p.His128Tyr) rs2100822486
NM_014874.4(MFN2):c.436C>T (p.Leu146Phe) rs863224969
NM_014874.4(MFN2):c.479T>G (p.Val160Gly) rs879253861
NM_014874.4(MFN2):c.497C>T (p.Ala166Val) rs1557522849
NM_014874.4(MFN2):c.526G>A (p.Gly176Ser) rs879253862
NM_014874.4(MFN2):c.616A>G (p.Thr206Ala) rs1569842296
NM_014874.4(MFN2):c.638T>A (p.Ile213Asn) rs1557524703
NM_014874.4(MFN2):c.653T>C (p.Leu218Pro) rs879253925
NM_014874.4(MFN2):c.658G>A (p.Ala220Thr) rs1639045345
NM_014874.4(MFN2):c.691T>C (p.Ser231Pro)
NM_014874.4(MFN2):c.695C>A (p.Thr232Asn) rs1569842764
NM_014874.4(MFN2):c.695C>G (p.Thr232Ser) rs1569842764
NM_014874.4(MFN2):c.701T>A (p.Met234Lys) rs1639047697
NM_014874.4(MFN2):c.702G>A (p.Met234Ile)
NM_014874.4(MFN2):c.724C>T (p.His242Tyr)
NM_014874.4(MFN2):c.746C>G (p.Ser249Cys) rs794729198
NM_014874.4(MFN2):c.827A>G (p.Gln276Arg) rs119103264
NM_014874.4(MFN2):c.839G>A (p.Arg280His) rs28940294
NM_014874.4(MFN2):c.839G>C (p.Arg280Pro) rs28940294
NM_014874.4(MFN2):c.880C>T (p.Arg294Ter) rs866604005

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