ClinVar Miner

List of variants studied for Charcot-Marie-Tooth disease type X by Victorian Clinical Genetics Services, Murdoch Childrens Research Institute

Included ClinVar conditions (9):

Arts syndrome; Hearing loss, X-linked 1; Charcot-Marie-Tooth disease X-linked recessive 5; Phosphoribosylpyrophosphate synthetase superactivity
Charcot-Marie-Tooth disease X-linked dominant 1
Charcot-Marie-Tooth disease X-linked dominant 6
Charcot-Marie-Tooth disease X-linked recessive 4
Charcot-Marie-Tooth disease X-linked recessive 4; Deafness, X-linked 5; Severe X-linked mitochondrial encephalomyopathy
Charcot-Marie-Tooth disease X-linked recessive 4; Deafness, X-linked 5; Spondyloepimetaphyseal dysplasia, Bieganski type; Severe X-linked mitochondrial encephalomyopathy
Charcot-Marie-Tooth disease X-linked recessive 4; Severe X-linked mitochondrial encephalomyopathy
Charcot-Marie-Tooth disease X-linked recessive 5
Charcot-Marie-Tooth disease type X

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
		ClinVar version:

Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_000166.6(GJB1):c.319C>T (p.Arg107Trp)	rs863224973	0.00005
NM_004208.4(AIFM1):c.1646C>T (p.Ala549Val)	rs761953453	0.00001
NM_000166.6(GJB1):c.423C>G (p.Phe141Leu)	rs1555937180
NM_000166.6(GJB1):c.43C>T (p.Arg15Trp)	rs116840815
NM_000166.6(GJB1):c.445T>A (p.Phe149Ile)	rs1602349369

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