ClinVar Miner

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

Included ClinVar conditions (92):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_007289.4(MME):c.307C>T (p.Arg103Cys) rs765422392 0.00002
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
NM_001303256.3(MORC2):c.996G>T (p.Leu332Phe) rs769996010
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.9331A>G (p.Ser3111Gly) rs1595623556
NM_006158.5(NEFL):c.259C>T (p.Arg87Cys)
NM_014874.4(MFN2):c.781G>C (p.Asp261His) rs2100832682
NM_018972.4(GDAP1):c.182G>A (p.Ser61Asn) rs1808861763

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