ClinVar Miner

List of variants in gene KARS1, LOC126862402 studied for Autosomal recessive nonsyndromic hearing loss 89

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Gene type: Distinguish antisense genes from sense genes
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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_005548.3(KARS1):c.1430G>A (p.Arg477His)	rs778748895	0.00002
NM_005548.3(KARS1):c.1493C>T (p.Ala498Val)	rs1415687857	0.00001
NM_005548.3(KARS1):c.1357G>C (p.Glu453Gln)	rs2151801345

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