List of variants in gene ITGB6 studied for amelogenesis imperfecta

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_000888.5(ITGB6):c.1312G>A (p.Val438Met)	rs61737764	0.00345
NM_000888.5(ITGB6):c.427G>A (p.Ala143Thr)	rs140015315	0.00010
NM_000888.5(ITGB6):c.1846C>T (p.Arg616Ter)	rs730880297	0.00002
NM_000888.5(ITGB6):c.1661-3C>G	rs1683256077
NM_000888.5(ITGB6):c.2269-5del	rs5835793
NM_000888.5(ITGB6):c.586C>A (p.Pro196Thr)	rs730880298
NM_000888.5(ITGB6):c.625G>T (p.Gly209Ter)	rs561588576
NM_000888.5(ITGB6):c.718G>A (p.Glu240Lys)
NM_000888.5(ITGB6):c.825T>A (p.His275Gln)	rs730882118

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