ClinVar Miner

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

Included ClinVar conditions (7):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 6
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HGVS dbSNP
NM_031889.3(ENAM):c.123+2T>G rs1553887511
NM_031889.3(ENAM):c.1259_1260insAG (p.Pro422fs) rs587776588
NM_031889.3(ENAM):c.157A>T (p.Lys53Ter) rs121908109
NM_031889.3(ENAM):c.1842C>G (p.Tyr614Ter) rs1553888384
NM_031889.3(ENAM):c.534+1G>A rs587776587
NM_031889.3(ENAM):c.92T>G (p.Leu31Arg) rs1060499539

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