List of variants in gene EFTUD2 reported as pathogenic by Ambry Genetics

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_004247.4(EFTUD2):c.1058+1G>A	rs1085307647
NM_004247.4(EFTUD2):c.1465_1466del (p.Gln489fs)	rs1555565807
NM_004247.4(EFTUD2):c.1554del (p.Asp518fs)	rs2050680680
NM_004247.4(EFTUD2):c.2352dup (p.Arg785fs)	rs1555564175
NM_004247.4(EFTUD2):c.2504_2505dup (p.Val836fs)	rs2050490408
NM_004247.4(EFTUD2):c.2562-1G>A	rs1555564006
NM_004247.4(EFTUD2):c.2595dup (p.Ser866fs)	rs1555563998

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