ClinVar Miner

List of variants in gene BCHE reported by Counsyl

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Total variants: 57
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HGVS dbSNP gnomAD frequency
NM_000055.4(BCHE):c.849G>C (p.Glu283Asp) rs16849700 0.02374
NM_000055.4(BCHE):c.635C>T (p.Ala212Val) rs114706984 0.00254
NM_000055.4(BCHE):c.428G>A (p.Gly143Asp) rs201820739 0.00035
NM_000055.4(BCHE):c.155C>T (p.Thr52Met) rs56309853 0.00024
NM_000055.4(BCHE):c.1504T>C (p.Phe502Leu) rs769316835 0.00019
NM_000055.4(BCHE):c.570T>C (p.Ala190=) rs115463466 0.00019
NM_000055.4(BCHE):c.1492C>T (p.Arg498Trp) rs115017300 0.00009
NM_000055.4(BCHE):c.1627C>T (p.Arg543Cys) rs199660374 0.00006
NM_000055.4(BCHE):c.1177G>C (p.Gly393Arg) rs115129687 0.00003
NM_000055.4(BCHE):c.1584T>A (p.Tyr528Ter) rs760485585 0.00002
NM_000055.4(BCHE):c.459A>T (p.Leu153Phe) rs747598704 0.00002
NM_000055.4(BCHE):c.757G>T (p.Gly253Ter) rs140080572 0.00002
NM_000055.4(BCHE):c.1067C>A (p.Ala356Asp) rs770337031 0.00001
NM_000055.4(BCHE):c.1072T>A (p.Leu358Ile) rs121918557 0.00001
NM_000055.4(BCHE):c.1240C>T (p.Arg414Cys) rs745364489 0.00001
NM_000055.4(BCHE):c.1517+1G>T rs1057517218 0.00001
NM_000055.4(BCHE):c.1528G>T (p.Glu510Ter) rs1057516482 0.00001
NM_000055.4(BCHE):c.1576C>T (p.Gln526Ter) rs1057517144 0.00001
NM_000055.4(BCHE):c.182A>G (p.Tyr61Cys) rs116097205 0.00001
NM_000055.4(BCHE):c.295C>T (p.Gln99Ter) rs990121358 0.00001
NM_000055.4(BCHE):c.307G>C (p.Gly103Arg) rs979653503 0.00001
NM_000055.4(BCHE):c.884A>G (p.Lys295Arg) rs115624085 0.00001
NM_000055.4(BCHE):c.895G>T (p.Glu299Ter) rs747196387 0.00001
NM_000055.4(BCHE):c.1004T>C (p.Leu335Pro) rs104893684
NM_000055.4(BCHE):c.1015C>T (p.Gln339Ter) rs1057517265
NM_000055.4(BCHE):c.1027dup (p.Thr343fs) rs754214624
NM_000055.4(BCHE):c.1030C>T (p.Gln344Ter) rs1553778114
NM_000055.4(BCHE):c.1073dup (p.Leu358fs) rs1057516450
NM_000055.4(BCHE):c.110del (p.Lys37fs) rs1057517439
NM_000055.4(BCHE):c.1183G>T (p.Glu395Ter) rs1057517221
NM_000055.4(BCHE):c.1222C>T (p.Gln408Ter) rs1278095773
NM_000055.4(BCHE):c.1240del (p.Arg414fs) rs1057517288
NM_000055.4(BCHE):c.1259TTG[1] (p.Val421del) rs1398106709
NM_000055.4(BCHE):c.1284C>A (p.Cys428Ter) rs762341786
NM_000055.4(BCHE):c.1372dup (p.Trp458fs) rs1553778044
NM_000055.4(BCHE):c.1497G>A (p.Trp499Ter) rs1553778017
NM_000055.4(BCHE):c.149del (p.Gly50fs) rs762189020
NM_000055.4(BCHE):c.1615dup (p.Met539fs) rs1553774172
NM_000055.4(BCHE):c.1642C>T (p.Arg548Ter) rs747099939
NM_000055.4(BCHE):c.1684+1G>T rs1057516496
NM_000055.4(BCHE):c.1685-2A>G rs779366544
NM_000055.4(BCHE):c.1703_1720dup (p.Glu568_Ala573dup) rs1553772963
NM_000055.4(BCHE):c.185C>T (p.Ala62Val) rs1553778274
NM_000055.4(BCHE):c.206_207del (p.Leu69fs) rs1057516784
NM_000055.4(BCHE):c.382C>T (p.Pro128Ser) rs3732880
NM_000055.4(BCHE):c.435delinsAG (p.Phe146fs) rs398124632
NM_000055.4(BCHE):c.439C>T (p.Gln147Ter) rs760182781
NM_000055.4(BCHE):c.44G>A (p.Trp15Ter) rs1553778291
NM_000055.4(BCHE):c.493del (p.Glu165fs) rs1057516707
NM_000055.4(BCHE):c.495_498del (p.Arg166fs) rs772259613
NM_000055.4(BCHE):c.611del (p.Gln204fs) rs1553778198
NM_000055.4(BCHE):c.615G>A (p.Trp205Ter) rs568724445
NM_000055.4(BCHE):c.619C>T (p.Gln207Ter) rs1057517208
NM_000055.4(BCHE):c.662del (p.Thr221fs) rs1553778185
NM_000055.4(BCHE):c.666_667del (p.Phe223fs) rs747983616
NM_000055.4(BCHE):c.687del (p.Ala230fs) rs1553778179
NM_000055.4(BCHE):c.793del (p.Tyr265fs) rs778568717

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