ClinVar Miner

List of variants studied for Charcot-Marie-Tooth disease by Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues

Included ClinVar conditions (172):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_002693.3(POLG):c.803G>C (p.Gly268Ala) rs61752784 0.00364
NM_007289.4(MME):c.2072C>T (p.Ala691Val) rs1414684441 0.00001
NM_000530.8(MPZ):c.215G>A (p.Gly72Glu)
NM_000530.8(MPZ):c.304del (p.Trp101_Val102insTer)
NM_001005361.3(DNM2):c.2185C>G (p.Leu729Val)
NM_002047.4(GARS1):c.34G>A (p.Ala12Thr) rs1584017035
NM_006158.5(NEFL):c.1181A>G (p.Glu394Gly)
NM_014874.4(MFN2):c.1615G>A (p.Glu539Lys)
NM_014874.4(MFN2):c.2254T>A (p.Tyr752Asn)
NM_016156.6(MTMR2):c.1492T>C (p.Phe498Leu)

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