ClinVar Miner

List of variants in gene EFCAB13-DT, ITGB3 studied for Glanzmann thrombasthenia 1

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Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_000212.3(ITGB3):c.2248C>T (p.Arg750Ter)	rs121918450	0.00016
NM_000212.3(ITGB3):c.2311C>T (p.Pro771Ser)	rs766423016	0.00001
NM_000212.3(ITGB3):c.2216_2217insAGCA (p.Ile740fs)	rs2143150604

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