ClinVar Miner

List of variants studied for Amelogenesis imperfecta type 2A1

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Total variants: 6
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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.224+2T>C
NM_004917.5(KLK4):c.245del (p.Gly82fs) rs786204825
NM_004917.5(KLK4):c.443G>T (p.Cys148Phe)
NM_004917.5(KLK4):c.620_621del (p.Ser207fs) rs768235705

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