List of variants in gene combination GALK1, ITGB4 reported as benign for galactosemia

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 5

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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_000154.2(GALK1):c.1119C>T (p.Gly373=)	rs73997615	0.00237

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