ClinVar Miner

List of variants reported as pathogenic for amelogenesis imperfecta type 1A by OMIM

Included ClinVar conditions (2):

Amelogenesis imperfecta type 1A
Amelogenesis imperfecta type 1A; Junctional epidermolysis bullosa gravis of Herlitz; Junctional epidermolysis bullosa, non-Herlitz type

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_000228.3(LAMB3):c.3394dup (p.Glu1132fs)	rs786201004
NM_000228.3(LAMB3):c.3431C>A (p.Ser1144Ter)	rs869320671
NM_000228.3(LAMB3):c.3446_3453del (p.Gly1149fs)	rs1553275034

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