ClinVar Miner

List of variants reported as pathogenic for Charcot-Marie-Tooth disease axonal type 2Z by Invitae

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Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_001303256.3(MORC2):c.1181A>G (p.Tyr394Cys) rs1555938796
NM_001303256.3(MORC2):c.1220G>A (p.Cys407Tyr) rs1555938741
NM_001303256.3(MORC2):c.1271C>G (p.Thr424Arg)
NM_001303256.3(MORC2):c.1396G>A (p.Asp466Asn)
NM_001303256.3(MORC2):c.260C>T (p.Ser87Leu) rs864309504
NM_001303256.3(MORC2):c.394C>T (p.Arg132Cys) rs1064795559
NM_001303256.3(MORC2):c.395G>T (p.Arg132Leu) rs1602496057
NM_001303256.3(MORC2):c.707A>G (p.Glu236Gly) rs886037934
NM_001303256.3(MORC2):c.754C>T (p.Arg252Trp) rs864309503
NM_001303256.3(MORC2):c.798G>C (p.Arg266Ser) rs1064796495
NM_001303256.3(MORC2):c.79G>A (p.Glu27Lys) rs1602510200

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