ClinVar Miner

List of variants studied for amelogenesis imperfecta type 1H by OMIM

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
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.586C>A (p.Pro196Thr) rs730880298
NM_000888.5(ITGB6):c.825T>A (p.His275Gln) rs730882118

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