ClinVar Miner

List of variants studied for dental enamel hypoplasia by Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center

Included ClinVar conditions (28):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_000888.5(ITGB6):c.871G>A (p.Gly291Arg)
NM_004917.5(KLK4):c.224+2T>C
NM_017565.4(FAM20A):c.915_918del (p.Phe305fs) rs760163489
NM_182758.4(WDR72):c.1348+1G>T
NM_182758.4(WDR72):c.858-1G>C

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