List of variants in gene GDAP1, LOC130000622 studied for Charcot-Marie-Tooth disease axonal type 2K; Charcot-Marie-Tooth disease type 4A; Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive; Charcot-Marie-Tooth disease recessive intermediate A

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_018972.2(GDAP1):c.[347T>C];[62delA]
NM_018972.4(GDAP1):c.112C>T (p.Gln38Ter)	rs761035569
NM_018972.4(GDAP1):c.15_16delinsAT (p.Glu6Ter)
NM_018972.4(GDAP1):c.1A>G (p.Met1Val)	rs1474390668
NM_018972.4(GDAP1):c.1del (p.Met1fs)	rs2536722528
NM_018972.4(GDAP1):c.77T>G (p.Leu26Arg)

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