List of variants in gene EIF2B2 reported by GeneDx

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: 29

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HGVS	dbSNP	gnomAD frequency
NM_014239.4(EIF2B2):c.433+44C>A	rs175041	0.98409
NM_014239.4(EIF2B2):c.434-37T>A	rs371500682	0.63055
NM_014239.4(EIF2B2):c.434-39T>A	rs200354660	0.51965
NM_014239.4(EIF2B2):c.434-35T>A	rs201252172	0.48579
NC_000014.9:g.75002852A>G	rs175040	0.46287
NM_014239.4(EIF2B2):c.597+199C>T	rs12894419	0.46004
NM_014239.4(EIF2B2):c.434-32T>A	rs71426992	0.45901
NM_014239.4(EIF2B2):c.597+200G>A	rs175043	0.39460
NM_014239.4(EIF2B2):c.434-41T>A	rs778540848	0.24788
NM_014239.4(EIF2B2):c.434-42T>A	rs768704231	0.15162
NM_014239.4(EIF2B2):c.434-43T>A	rs749163540	0.14347
NM_014239.4(EIF2B2):c.434-44T>A	rs199617675	0.14177
NM_014239.4(EIF2B2):c.434-46T>A	rs201498750	0.11814
NM_014239.4(EIF2B2):c.434-40T>A	rs747986323	0.01928
NM_014239.4(EIF2B2):c.434-38T>A	rs747246029	0.00665
NM_014239.4(EIF2B2):c.434-36T>A	rs759931855	0.00386
NM_014239.4(EIF2B2):c.380C>T (p.Ala127Val)	rs150617429	0.00127
NM_014239.4(EIF2B2):c.599G>T (p.Gly200Val)	rs113994012	0.00027
NM_014239.4(EIF2B2):c.638A>G (p.Glu213Gly)	rs104894425	0.00007
NM_014239.4(EIF2B2):c.3G>T (p.Met1Ile)	rs767933078	0.00002
NM_014239.4(EIF2B2):c.285-1G>A	rs373906805	0.00001
NM_014239.4(EIF2B2):c.586C>T (p.Pro196Ser)	rs113994011	0.00001
NM_014239.4(EIF2B2):c.818A>G (p.Lys273Arg)	rs113994016	0.00001
NM_014239.4(EIF2B2):c.922G>A (p.Val308Met)	rs372548739	0.00001
NM_014239.4(EIF2B2):c.284+5_284+7del	rs2503004003
NM_014239.4(EIF2B2):c.581G>A (p.Cys194Tyr)	rs1131691872
NM_014239.4(EIF2B2):c.607_612delinsTG (p.Met203fs)	rs113994014
NM_014239.4(EIF2B2):c.890del (p.Phe297fs)	rs773041356
NM_014239.4(EIF2B2):c.922G>T (p.Val308Leu)	rs372548739

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