ClinVar Miner

List of variants in gene BCHE reported as pathogenic for metabolic disease involving other neurotransmitter deficiency

Included ClinVar conditions (8):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 15
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HGVS dbSNP gnomAD frequency
NM_000055.2(BCHE):c.293A>G (p.Asp98Gly) rs1799807 0.01259
NM_000055.4(BCHE):c.428G>A (p.Gly143Asp) rs201820739 0.00035
NM_000055.4(BCHE):c.1004T>C (p.Leu335Pro) rs104893684 0.00010
NM_000055.4(BCHE):c.1177G>C (p.Gly393Arg) rs115129687 0.00005
NM_000055.4(BCHE):c.1354C>T (p.Arg452Ter) rs530517316 0.00004
NM_000055.4(BCHE):c.1584T>A (p.Tyr528Ter) rs760485585 0.00002
NM_000055.4(BCHE):c.1072T>A (p.Leu358Ile) rs121918557 0.00001
NM_000055.4(BCHE):c.1129G>T (p.Glu377Ter) rs534912670 0.00001
NM_000055.4(BCHE):c.1240C>T (p.Arg414Cys) rs745364489 0.00001
NM_000055.4(BCHE):c.100del (p.Ile34fs) rs750309713
NM_000055.4(BCHE):c.1027dup (p.Thr343fs) rs754214624
NM_000055.4(BCHE):c.435delinsAG (p.Phe146fs) rs398124632
NM_000055.4(BCHE):c.467A>G (p.Tyr156Cys) rs121918558
NM_000055.4(BCHE):c.777G>A (p.Trp259Ter) rs2473426112
NM_000055.4:c.1160_1161ins[N[342];1146_1160]

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