ClinVar Miner

List of variants in gene SLC24A4 reported as pathogenic for amelogenesis imperfecta hypomaturation type 2A5

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 4
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NM_153648.3(SLC24A4):c.1000C>T (p.Gln334Ter)
NM_153648.3(SLC24A4):c.1303A>T (p.Ser435Cys) rs587777536
NM_153648.3(SLC24A4):c.245C>T (p.Ala82Val) rs587777537
NM_153648.3(SLC24A4):c.823C>T (p.Arg275Ter) rs587777535

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