List of variants in gene GALK1, ITGB4 studied for Deficiency of galactokinase

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: 11

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HGVS	dbSNP	gnomAD frequency
NM_000213.5(ITGB4):c.*25C>T	rs9367	0.71419
NM_000213.5(ITGB4):c.5336T>C (p.Leu1779Pro)	rs871443	0.61836
NM_000213.5(ITGB4):c.4521C>G (p.Pro1507=)	rs8669	0.37872
NM_000213.5(ITGB4):c.5054-15A>G	rs8078247	0.15459
NM_000213.5(ITGB4):c.*4C>T	rs189610725	0.00703
NM_000154.2(GALK1):c.1119C>T (p.Gly373=)	rs73997615	0.00237
NC_000017.10:g.(?_73753076)_(73754632_?)del
NM_000213.5(ITGB4):c.5179_5200del (p.Pro1726_Glu1727insTer)	rs759412123
NM_000213.5(ITGB4):c.5218+2T>C	rs780675808
NM_000213.5(ITGB4):c.5247_5251del (p.Gly1750fs)	rs1555746537
NM_000213.5(ITGB4):c.5350C>T (p.Gln1784Ter)	rs1443010160

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