ClinVar Miner

List of variants reported as benign for Charcot-Marie-Tooth disease type 2 by Mendelics

Included ClinVar conditions (92):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_001005373.4(LRSAM1):c.952A>G (p.Asn318Asp) rs1539567 0.75123
NM_002047.4(GARS1):c.124C>G (p.Pro42Ala) rs1049402 0.70073
NM_001605.3(AARS1):c.671+3A>G rs74024185 0.07668
NM_001605.3(AARS1):c.824G>A (p.Gly275Asp) rs11537667 0.07667
NM_014874.4(MFN2):c.1403G>A (p.Arg468His) rs138382758 0.00255
NM_021625.5(TRPV4):c.649G>T (p.Ala217Ser) rs187864727 0.00172
NM_020647.4(JPH1):c.638G>C (p.Arg213Pro) rs201314759 0.00006
NM_021625.5(TRPV4):c.549G>C (p.Glu183Asp) rs141908793

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