ClinVar Miner

List of variants reported as uncertain significance for nutritional disorder by Molecular Genetics Laboratory, Biocruces Bizkaia Health Research Institute

Included ClinVar conditions (116):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_000785.4(CYP27B1):c.40C>T (p.Arg14Cys) rs150648140 0.00023
NM_000376.3(VDR):c.156G>T (p.Met52Ile) rs200041268 0.00009
NM_000376.3(VDR):c.1121C>G (p.Pro374Arg) rs200556498

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