List of variants in gene EFTUD2 reported by Genetic Services Laboratory, University of Chicago

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: 12

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HGVS	dbSNP	gnomAD frequency
NM_004247.4(EFTUD2):c.426+8G>A	rs2289677	0.62345
NM_004247.4(EFTUD2):c.994+6C>T	rs11654183	0.26275
NM_004247.4(EFTUD2):c.762T>C (p.Thr254=)	rs2289674	0.20662
NM_004247.4(EFTUD2):c.1698C>T (p.Thr566=)	rs187284437	0.00036
NM_004247.4(EFTUD2):c.1965G>A (p.Val655=)	rs772825325	0.00001
NM_004247.4(EFTUD2):c.1149+1G>C	rs797045550
NM_004247.4(EFTUD2):c.1297_1298del (p.Met433fs)	rs797045551
NM_004247.4(EFTUD2):c.1414-3del	rs2145470655
NM_004247.4(EFTUD2):c.2005A>G (p.Thr669Ala)	rs2145447918
NM_004247.4(EFTUD2):c.2198G>A (p.Trp733Ter)	rs1555564341
NM_004247.4(EFTUD2):c.426G>A (p.Lys142=)	rs1555569606
NM_004247.4(EFTUD2):c.784C>T (p.Arg262Trp)	rs387906877

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