ClinVar Miner

List of variants reported as pathogenic for amelogenesis imperfecta type 1 by Leeds Amelogenesis Imperfecta Research Group, University of Leeds

Included ClinVar conditions (7):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP
NM_000228.3(LAMB3):c.3340G>T (p.Glu1114Ter) rs1553275195
NM_000228.3(LAMB3):c.3383-1G>A rs1553275070
NM_033068.3(ACP4):c.428C>T (p.Thr143Met) rs546603773
NM_033068.3(ACP4):c.746C>T (p.Pro249Leu) rs1085307111

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