ClinVar Miner

List of variants studied for Charcot-Marie-Tooth disease type X by Institute of Human Genetics, University of Leipzig Medical Center

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: 7

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HGVS	dbSNP	gnomAD frequency
NM_000166.6(GJB1):c.467T>A (p.Leu156His)	rs104894818
NM_000166.6(GJB1):c.514C>G (p.Pro172Ala)	rs104894811
NM_000166.6(GJB1):c.619G>C (p.Ala207Pro)	rs2147946898
NM_000166.6(GJB1):c.643C>T (p.Arg215Trp)	rs879254099
NM_000166.6(GJB1):c.646G>A (p.Ala216Thr)	rs2147947019
NM_000166.6(GJB1):c.73C>T (p.Leu25Phe)	rs1602348662
NM_004208.4(AIFM1):c.322CAGAAA[1] (p.108QK[1])	rs2030881306

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