List of variants in gene ENAM reported as pathogenic for Amelogenesis imperfecta - hypoplastic autosomal dominant - local

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_031889.3(ENAM):c.1259_1260insAG (p.Pro422fs)	rs587776588	0.00018
NM_031889.3(ENAM):c.123+2T>G	rs1553887511
NM_031889.3(ENAM):c.157A>T (p.Lys53Ter)	rs121908109
NM_031889.3(ENAM):c.534+1G>A	rs587776587
NM_031889.3(ENAM):c.588+1del	rs752102959
NM_031889.3(ENAM):c.664C>T (p.Gln222Ter)
NM_031889.3(ENAM):c.92T>G (p.Leu31Arg)	rs1060499539

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