ClinVar Miner

List of variants reported as likely pathogenic for Deficiency of butyrylcholine esterase

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Total variants: 42
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HGVS dbSNP
NM_000055.2(BCHE):c.1584T>A (p.Tyr528Ter) rs760485585
NM_000055.2(BCHE):c.293A>G (p.Asp98Gly) rs1799807
NM_000055.2(BCHE):c.428G>A (p.Gly143Asp) rs201820739
NM_000055.2(BCHE):c.635C>T (p.Ala212Val) rs114706984
NM_000055.2(BCHE):c.812C>T (p.Thr271Met) rs28933389
NM_000055.3(BCHE):c.1004T>C (p.Leu335Pro) rs104893684
NM_000055.3(BCHE):c.1015C>T (p.Gln339Ter) rs1057517265
NM_000055.3(BCHE):c.1027dupA (p.Thr343Asnfs) rs754214624
NM_000055.3(BCHE):c.1030C>T (p.Gln344Ter) rs1553778114
NM_000055.3(BCHE):c.1073dupT (p.Leu358Phefs) rs1057516450
NM_000055.3(BCHE):c.110delA (p.Lys37Argfs) rs1057517439
NM_000055.3(BCHE):c.1183G>T (p.Glu395Ter) rs1057517221
NM_000055.3(BCHE):c.1222C>T (p.Gln408Ter) rs1278095773
NM_000055.3(BCHE):c.1240C>T (p.Arg414Cys) rs745364489
NM_000055.3(BCHE):c.1240delC (p.Arg414Valfs) rs1057517288
NM_000055.3(BCHE):c.1284C>A (p.Cys428Ter) rs762341786
NM_000055.3(BCHE):c.1372dup (p.Trp458Leufs) rs1553778044
NM_000055.3(BCHE):c.1497G>A (p.Trp499Ter) rs1553778017
NM_000055.3(BCHE):c.149del (p.Gly50Valfs) rs762189020
NM_000055.3(BCHE):c.1517+1G>T rs1057517218
NM_000055.3(BCHE):c.1528G>T (p.Glu510Ter) rs1057516482
NM_000055.3(BCHE):c.1576C>T (p.Gln526Ter) rs1057517144
NM_000055.3(BCHE):c.1627C>T (p.Arg543Cys) rs199660374
NM_000055.3(BCHE):c.1684+1G>T rs1057516496
NM_000055.3(BCHE):c.1685-2A>G rs779366544
NM_000055.3(BCHE):c.206_207delTT (p.Leu69Profs) rs1057516784
NM_000055.3(BCHE):c.295C>T (p.Gln99Ter) rs990121358
NM_000055.3(BCHE):c.382C>T (p.Pro128Ser) rs3732880
NM_000055.3(BCHE):c.439C>T (p.Gln147Ter) rs760182781
NM_000055.3(BCHE):c.44G>A (p.Trp15Ter) rs1553778291
NM_000055.3(BCHE):c.493delG (p.Glu165Lysfs) rs1057516707
NM_000055.3(BCHE):c.495_498delAAGA (p.Arg166Leufs) rs772259613
NM_000055.3(BCHE):c.611del (p.Gln204Argfs) rs1553778198
NM_000055.3(BCHE):c.615G>A (p.Trp205Ter) rs568724445
NM_000055.3(BCHE):c.619C>T (p.Gln207Ter) rs1057517208
NM_000055.3(BCHE):c.662del (p.Thr221Ilefs) rs1553778185
NM_000055.3(BCHE):c.666_667delCT (p.Phe223Trpfs) rs747983616
NM_000055.3(BCHE):c.687del (p.Ala230Leufs) rs1553778179
NM_000055.3(BCHE):c.757G>T (p.Gly253Ter) rs140080572
NM_000055.3(BCHE):c.793delT (p.Tyr265Metfs) rs778568717
NM_000055.3(BCHE):c.884A>G (p.Lys295Arg) rs115624085
NM_000055.3(BCHE):c.895G>T (p.Glu299Ter) rs747196387

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