ClinVar Miner

List of variants studied for Charcot-Marie-Tooth disease by HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology

Included ClinVar conditions (130):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
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HGVS dbSNP
NM_000902.4(MME):c.1272del (p.Arg425fs) rs1060499935
NM_000902.4(MME):c.1904G>A (p.Gly635Asp) rs151302020
NM_002109.6(HARS1):c.410G>A (p.Arg137Gln) rs191391414
NM_006329.3(FBLN5):c.1117C>T (p.Arg373Cys) rs864309526
NM_014874.3(MFN2):c.2219G>C (p.Trp740Ser) rs28940292
NM_025137.4(SPG11):c.1621C>T (p.Gln541Ter) rs765061840
NM_025137.4(SPG11):c.6899T>C (p.Leu2300Pro) rs371334506

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