ClinVar Miner

List of variants studied for Glanzmann thrombasthenia 1 by 3billion

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Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_000419.5(ITGA2B):c.1073G>A (p.Arg358His)	rs137852908
NM_000419.5(ITGA2B):c.1619_1660del (p.Gln540_Leu553del)	rs2143459210
NM_000419.5(ITGA2B):c.1624G>A (p.Asp542Asn)
NM_000419.5(ITGA2B):c.21_22del (p.Leu8fs)	rs2143507418
NM_000419.5(ITGA2B):c.409-3C>G	rs2143489585

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