ClinVar Miner

List of variants studied for Charcot-Marie-Tooth disease axonal type 2Z by Laboratory of Functional Genomics, Research Centre for Medical Genetics

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_001303256.3(MORC2):c.1994C>G (p.Ser665Cys) rs1402143255 0.00001
NM_001303256.3(MORC2):c.1397A>G (p.Asp466Gly)
NM_001303256.3(MORC2):c.754C>T (p.Arg252Trp) rs864309503

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