ClinVar Miner

List of variants studied for Charcot-Marie-Tooth disease dominant intermediate C by Baylor Genetics

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_003680.4(YARS1):c.1199G>A (p.Arg400Gln) rs746892773 0.00001
NM_003680.4(YARS1):c.130A>G (p.Thr44Ala) rs1638571973
NM_003680.4(YARS1):c.471G>C (p.Glu157Asp) rs1569769936

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