ClinVar Miner

List of variants studied for amelogenesis imperfecta, type 1J by Leeds Amelogenesis Imperfecta Research Group, University of Leeds

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_033068.3(ACP4):c.428C>T (p.Thr143Met) rs546603773 0.00003
NM_033068.3(ACP4):c.746C>T (p.Pro249Leu) rs1085307111

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