ClinVar Miner

List of variants reported as uncertain significance for Charcot-Marie-Tooth disease X-linked recessive 4 by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (4):

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

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Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_004208.4(AIFM1):c.170C>G (p.Ser57Cys)	rs201711375	0.00010
NM_004208.4(AIFM1):c.1693A>G (p.Ile565Val)	rs1375125488	0.00001
NM_004208.4(AIFM1):c.1586G>A (p.Arg529Gln)	rs1227079178

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