ClinVar Miner

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

Included ClinVar conditions (134):
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ClinVar version:
Total variants: 12
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HGVS dbSNP
NM_000399.5(EGR2):c.1352G>T (p.Gly451Val) rs138967272
NM_001370298.1(FGD4):c.123C>G (p.Ile41Met)
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_004715.5(CTDP1):c.2418-207_2418-165dup
NM_016156.5(MTMR2):c.8A>C (p.Lys3Thr) rs3824874
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_024577.3(SH3TC2):c.3686A>T (p.Asp1229Val) rs146920285
NM_138361.5(LRSAM1):c.952A>G (p.Asn318Asp) rs1539567

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