List of variants in gene ITGB2 reported as pathogenic by OMIM

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 14

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HGVS	dbSNP	gnomAD frequency
NM_000211.5(ITGB2):c.817G>A (p.Gly273Arg)	rs137852618	0.00006
NM_000211.5(ITGB2):c.897+1G>A	rs201752283	0.00004
NM_000211.5(ITGB2):c.850G>A (p.Gly284Ser)	rs137852616	0.00003
NM_000211.5(ITGB2):c.533C>T (p.Pro178Leu)	rs137852614	0.00002
NM_000211.5(ITGB2):c.1777C>T (p.Arg593Cys)	rs137852609	0.00001
NM_000211.5(ITGB2):c.2T>A (p.Met1Lys)	rs387906411	0.00001
NM_000211.5(ITGB2):c.382G>A (p.Asp128Asn)	rs137852615	0.00001
NM_000211.5(ITGB2):c.1052A>G (p.Asn351Ser)	rs137852613
NM_000211.5(ITGB2):c.329-36_452del
NM_000211.5(ITGB2):c.412T>C (p.Ser138Pro)	rs137852617
NM_000211.5(ITGB2):c.446T>C (p.Leu149Pro)	rs137852611
NM_000211.5(ITGB2):c.505G>A (p.Gly169Arg)	rs137852612
NM_000211.5(ITGB2):c.587A>C (p.Lys196Thr)	rs137852610
NM_000211.5(ITGB2):c.[1756C>T;742-14C>A]

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