List of variants in gene GALE reported as likely pathogenic for UDPglucose-4-epimerase deficiency

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: 21

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HGVS	dbSNP	gnomAD frequency
NM_001008216.2(GALE):c.505C>T (p.Arg169Trp)	rs137853859	0.00003
NM_001008216.2(GALE):c.151C>T (p.Arg51Trp)	rs780517804	0.00002
NM_001008216.2(GALE):c.905G>A (p.Gly302Asp)	rs137853861	0.00002
NM_001008216.2(GALE):c.280G>A (p.Val94Met)	rs121908047	0.00001
NM_001008216.2(GALE):c.284G>A (p.Gly95Asp)	rs1243531358	0.00001
NM_001008216.2(GALE):c.449C>T (p.Thr150Met)	rs765353795	0.00001
NM_001008216.2(GALE):c.715C>T (p.Arg239Trp)	rs137853860	0.00001
NM_001008216.2(GALE):c.796-1G>T	rs779828095	0.00001
NM_001008216.2(GALE):c.1004G>A (p.Arg335His)
NM_001008216.2(GALE):c.122-11_122-1del
NM_001008216.2(GALE):c.207C>A (p.Asp69Glu)	rs1261697960
NM_001008216.2(GALE):c.351+1G>T	rs1388106856
NM_001008216.2(GALE):c.351+2T>C
NM_001008216.2(GALE):c.408C>A (p.Tyr136Ter)	rs727503943
NM_001008216.2(GALE):c.528+1G>A
NM_001008216.2(GALE):c.642+1G>A
NM_001008216.2(GALE):c.643-2A>C
NM_001008216.2(GALE):c.709+2_709+17del
NM_001008216.2(GALE):c.749del (p.Gly250fs)	rs1570630665
NM_001008216.2(GALE):c.795+1G>A
NM_001008216.2(GALE):c.873+2T>C

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