ClinVar Miner

List of variants reported as pathogenic for amelogenesis imperfecta, type 3A by Reference Center For Rare Oral And Dental Diseases, Crmr O-rares, Hôpitaux Universitaires De Strasbourg

Included ClinVar conditions (2):

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)
		ClinVar version:

Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_198488.5(FAM83H):c.1309_1311delinsTAG (p.His437Ter)
NM_198488.5(FAM83H):c.1375C>T (p.Gln459Ter)
NM_198488.5(FAM83H):c.930_939dup (p.Val314fs)

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