ClinVar Miner

List of variants reported as uncertain significance for Charcot-Marie-Tooth disease type 2 by 3billion

Included ClinVar conditions (95):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_007289.4(MME):c.1040A>G (p.Tyr347Cys) rs138218277 0.00064
NM_002047.4(GARS1):c.305A>G (p.Lys102Arg) rs369224847 0.00003
NM_000701.8(ATP1A1):c.2957C>T (p.Thr986Ile) rs771215472
NM_001376.5(DYNC1H1):c.4463G>A (p.Arg1488His) rs2141286170
NM_001376.5(DYNC1H1):c.9815C>T (p.Ala3272Val) rs1255779162
NM_004637.6(RAB7A):c.467C>T (p.Ala156Val)
NM_014874.4(MFN2):c.1199G>C (p.Arg400Pro) rs138072432
NM_018972.4(GDAP1):c.113A>G (p.Gln38Arg)
NM_018972.4(GDAP1):c.719G>T (p.Cys240Phe) rs121908115

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