List of variants in gene AMBN reported as pathogenic for amelogenesis imperfecta type 1

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: 4

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HGVS	dbSNP	gnomAD frequency
NM_016519.6(AMBN):c.209C>G (p.Ser70Ter)	rs146148316	0.00011
NM_016519.6(AMBN):c.294+140_531+479del
NM_016519.6(AMBN):c.532-1G>C	rs146238585
NM_016519.6(AMBN):c.539dup (p.Val181fs)

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