ClinVar Miner

List of variants studied for dental enamel hypoplasia by Baylor Genetics

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_031889.3(ENAM):c.2315C>A (p.Ala772Asp) rs144070672 0.00018
NM_000228.3(LAMB3):c.2963G>A (p.Arg988Gln) rs142912342 0.00015
NM_017565.4(FAM20A):c.813-2A>G rs587776912 0.00003
NM_000228.3(LAMB3):c.3382+1G>A rs112988476
NM_000228.3(LAMB3):c.655_656delinsTC (p.Val219Ser) rs1666739864

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