ClinVar Miner

List of variants reported as likely benign for Charcot-Marie-Tooth disease type 2D by Illumina Clinical Services Laboratory,Illumina

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Total variants: 16
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HGVS dbSNP
NM_002047.4(GARS1):c.-36C>A rs531483802
NM_002047.4(GARS1):c.1100A>G (p.Asn367Ser) rs192443850
NM_002047.4(GARS1):c.1716G>A (p.Pro572=) rs370608239
NM_002047.4(GARS1):c.1852G>A (p.Val618Ile) rs369894731
NM_002047.4(GARS1):c.1923T>C (p.His641=) rs182542046
NM_002047.4(GARS1):c.1962C>T (p.Ile654=) rs201927627
NM_002047.4(GARS1):c.2212G>A (p.Glu738Lys) rs181251337
NM_002047.4(GARS1):c.253A>G (p.Lys85Glu) rs200294578
NM_002047.4(GARS1):c.270C>T (p.Asp90=) rs369898799
NM_002047.4(GARS1):c.302G>A (p.Arg101His) rs200887429
NM_002047.4(GARS1):c.562G>A (p.Val188Ile) rs376772628
NM_002047.4(GARS1):c.699C>T (p.Val233=) rs187937286
NM_002047.4(GARS1):c.700G>A (p.Glu234Lys) rs373326652
NM_002047.4(GARS1):c.764C>T (p.Ala255Val) rs765478968
NM_002047.4(GARS1):c.766G>C (p.Asp256His) rs201399681
NM_002047.4(GARS1):c.882-15T>G rs199741850

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