List of variants in gene KLK4 reported as likely pathogenic for Amelogenesis imperfecta type 2A1

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

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.224+2T>C
NM_004917.5(KLK4):c.620_621del (p.Ser207fs)	rs768235705

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