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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HGVS dbSNP gnomAD frequency
NM_153646.4(SLC24A4):c.1015C>T (p.Arg339Ter) rs587777535 0.00001
NM_153646.4(SLC24A4):c.1192C>T (p.Gln398Ter) rs1595312054
NM_153646.4(SLC24A4):c.1495A>T (p.Ser499Cys) rs587777536
NM_153646.4(SLC24A4):c.437C>T (p.Ala146Val) rs587777537

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