ClinVar Miner

List of variants reported as pathogenic for amelogenesis imperfecta type 2A1

Included ClinVar conditions (1):

Amelogenesis imperfecta type 2A1

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_004917.5(KLK4):c.458G>A (p.Trp153Ter)	rs104894704	0.00068
NM_004917.5(KLK4):c.632del (p.Leu211fs)	rs556734208	0.00001
NM_004917.5(KLK4):c.245del (p.Gly82fs)	rs786204825

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