List of variants in gene BCHE reported by OMIM

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 16

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HGVS	dbSNP	gnomAD frequency
NM_000055.2(BCHE):c.1699G>A (p.Ala567Thr)	rs1803274	0.18493
NM_000055.2(BCHE):c.293A>G (p.Asp98Gly)	rs1799807	0.01259
NM_000055.2(BCHE):c.1253G>T (p.Gly418Val)	rs28933390	0.00310
NM_000055.2(BCHE):c.812C>T (p.Thr271Met)	rs28933389	0.00057
NM_000055.4(BCHE):c.1574A>T (p.Glu525Val)	rs121918556	0.00004
NM_000055.4(BCHE):c.508G>A (p.Val170Met)	rs527843566	0.00003
NM_000055.4(BCHE):c.1072T>A (p.Leu358Ile)	rs121918557	0.00001
BCHE Cynthiana
BCHE Johannesburg
BCHE Newfoundland
BCHE*FS126
NM_000055.4(BCHE):c.1004T>C (p.Leu335Pro)	rs104893684
NM_000055.4(BCHE):c.435delinsAG (p.Phe146fs)	rs398124632
NM_000055.4(BCHE):c.467A>G (p.Tyr156Cys)	rs121918558
NM_000055.4(BCHE):c.[1685-14T>A;428G>A]
NM_000055.4:c.1160_1161ins[N[342];1146_1160]

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