ClinVar Miner

List of variants in gene MORC2 reported as likely pathogenic for Charcot-Marie-Tooth disease axonal type 2Z

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Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_001303256.3(MORC2):c.956G>A (p.Arg319His) rs1163530787 0.00001
NM_001303256.3(MORC2):c.1217C>T (p.Ala406Val) rs1602485728
NM_001303256.3(MORC2):c.1270A>G (p.Thr424Ala) rs2147256596
NM_001303256.3(MORC2):c.1271C>A (p.Thr424Lys)
NM_001303256.3(MORC2):c.1292C>T (p.Ala431Val) rs2040679845
NM_001303256.3(MORC2):c.263C>T (p.Ala88Val) rs1602499659
NM_001303256.3(MORC2):c.71C>T (p.Thr24Ile) rs1602510214
NM_001303256.3(MORC2):c.754C>T (p.Arg252Trp) rs864309503
NM_001303256.3(MORC2):c.798G>T (p.Arg266Ser) rs1064796495

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