List of variants in gene combination ITGA2B, LOC130060983 reported as pathogenic for hematologic disorder

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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: 6

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HGVS	dbSNP	gnomAD frequency
NM_000419.5(ITGA2B):c.409-1G>A	rs1393747638	0.00001
NM_000419.5(ITGA2B):c.188+471_892-70delinsGCCACCCACAGTGCAATCCCACA
NM_000419.5(ITGA2B):c.188+484_892-70delinsCAATCCCACA
NM_000419.5(ITGA2B):c.399C>G (p.Asp133Glu)
NM_000419.5(ITGA2B):c.409-2_419del	rs879255508
NM_000419.5(ITGA2B):c.414C>A (p.Cys138Ter)	rs2048642260

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