ClinVar Miner

List of variants studied for dental enamel hypoplasia by Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

Included ClinVar conditions (28):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_004917.5(KLK4):c.458G>A (p.Trp153Ter) rs104894704 0.00068
NM_182758.4(WDR72):c.2019dup (p.Trp674fs)
NM_182758.4(WDR72):c.88C>T (p.Arg30Ter) rs770804941

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