ClinVar Miner

List of variants studied for Charcot-Marie-Tooth disease axonal type 2Z by Mendelics

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_001303256.3(MORC2):c.2380+1G>A rs113045177
NM_001303256.3(MORC2):c.394C>T (p.Arg132Cys) rs1064795559
NM_001303256.3(MORC2):c.754C>T (p.Arg252Trp) rs864309503
NM_001303256.3(MORC2):c.79G>A (p.Glu27Lys) rs1602510200

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