ClinVar Miner

List of variants reported as likely pathogenic for Charcot-Marie-Tooth disease type 2 by Institute of Human Genetics, University of Leipzig Medical Center

Included ClinVar conditions (98):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_002437.5(MPV17):c.376-9T>G rs368900406 0.00002
NM_001005373.4(LRSAM1):c.2120C>T (p.Pro707Leu) rs797044913
NM_001540.5(HSPB1):c.510del (p.Lys171fs) rs1803069940
NM_002047.4(GARS1):c.647A>G (p.His216Arg) rs768987322
NM_014874.4(MFN2):c.695C>G (p.Thr232Ser) rs1569842764
NM_014874.4(MFN2):c.827A>G (p.Gln276Arg) rs119103264
NM_021625.5(TRPV4):c.710G>A (p.Arg237Gln) rs1289139464

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