ClinVar Miner

List of variants in gene GARS1 reported as uncertain significance for Charcot-Marie-Tooth disease

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Total variants: 12
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HGVS dbSNP
NM_002047.4(GARS1):c.1000A>T (p.Ile334Phe) rs1554338260
NM_002047.4(GARS1):c.1415A>G (p.His472Arg) rs1060502838
NM_002047.4(GARS1):c.1660G>A (p.Asp554Asn) rs137852647
NM_002047.4(GARS1):c.1904C>T (p.Ser635Leu) rs201358272
NM_002047.4(GARS1):c.332C>T (p.Ala111Val)
NM_002047.4(GARS1):c.374A>G (p.Glu125Gly) rs137852645
NM_002047.4(GARS1):c.455C>T (p.Pro152Leu)
NM_002047.4(GARS1):c.598G>A (p.Asp200Asn)
NM_002047.4(GARS1):c.631T>C (p.Cys211Arg)
NM_002047.4(GARS1):c.794C>T (p.Ser265Phe) rs1554337974
NM_002047.4(GARS1):c.815T>A (p.Leu272Gln)
NM_002047.4(GARS1):c.880G>C (p.Gly294Arg) rs137852643

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