ClinVar Miner

List of variants in gene KARS1 studied for Charcot-Marie-Tooth disease recessive intermediate B; Autosomal recessive nonsyndromic hearing loss 89; Leukoencephalopathy, progressive, infantile-onset, with or without deafness; Deafness, congenital, and adult-onset progressive leukoencephalopathy

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Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_005548.3(KARS1):c.274G>C (p.Glu92Gln) rs11557669 0.00044
NM_005548.3(KARS1):c.223-8_223-6del rs370077957

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