ClinVar Miner

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

Included ClinVar conditions (60):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
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HGVS dbSNP
NM_001605.2(AARS1):c.671+3A>G rs74024185
NM_001605.2(AARS1):c.824G>A (p.Gly275Asp) rs11537667
NM_002047.4(GARS1):c.124C>G (p.Pro42Ala) rs1049402
NM_020647.4(JPH1):c.638G>C (p.Arg213Pro) rs201314759
NM_021625.4(TRPV4):c.549G>C (p.Glu183Asp) rs141908793
NM_021625.4(TRPV4):c.649G>T (p.Ala217Ser) rs187864727
NM_138361.5(LRSAM1):c.952A>G (p.Asn318Asp) rs1539567

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