List of variants in gene EIF2S3 studied for X-linked syndromic intellectual disability

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: 15

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HGVS	dbSNP	gnomAD frequency
NM_001415.4(EIF2S3):c.99C>T (p.His33=)	rs36018672	0.51303
NM_001415.4(EIF2S3):c.1003G>A (p.Gly335Ser)	rs2147129316
NM_001415.4(EIF2S3):c.1046G>A (p.Arg349Gln)
NM_001415.4(EIF2S3):c.1183-15A>G	rs1379305185
NM_001415.4(EIF2S3):c.1294C>T (p.Pro432Ser)	rs2147131515
NM_001415.4(EIF2S3):c.1394_1397del (p.Ile465fs)	rs886040857
NM_001415.4(EIF2S3):c.1403C>G (p.Thr468Arg)	rs2147132795
NM_001415.4(EIF2S3):c.324T>A (p.Ser108Arg)	rs1057515578
NM_001415.4(EIF2S3):c.431C>T (p.Thr144Ile)	rs751468976
NM_001415.4(EIF2S3):c.433A>G (p.Met145Val)	rs1602041478
NM_001415.4(EIF2S3):c.620T>C (p.Ile207Thr)
NM_001415.4(EIF2S3):c.665T>C (p.Ile222Thr)	rs886040855
NM_001415.4(EIF2S3):c.717A>G (p.Ile239Met)
NM_001415.4(EIF2S3):c.777T>G (p.Ile259Met)	rs886040856
NM_001415.4(EIF2S3):c.820C>G (p.Leu274Val)	rs2147128410

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