ClinVar Miner

List of variants reported as likely pathogenic for Endplate acetylcholinesterase deficiency

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Total variants: 7
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NM_005677.4(COLQ):c.1162G>A (p.Asp388Asn) rs1008156537
NM_005677.4(COLQ):c.1217G>C (p.Gly406Ala) rs1306593300
NM_005677.4(COLQ):c.1228C>T (p.Arg410Trp) rs139574075
NM_005677.4(COLQ):c.1281C>T (p.Cys427=) rs185829251
NM_005677.4(COLQ):c.1298G>A (p.Gly433Glu)
NM_005677.4(COLQ):c.1321A>G (p.Thr441Ala) rs375215281

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