ClinVar Miner

List of variants studied for nutritional deficiency disease by Intergen, Intergen Genetics and Rare Diseases Diagnosis Center

Included ClinVar conditions (41):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_000376.3(VDR):c.89G>A (p.Arg30Gln) rs373875011 0.00006
NM_000785.4(CYP27B1):c.164A>T (p.Lys55Met) rs762682469 0.00003
NM_001370658.1(BTD):c.1352G>T (p.Cys451Phe)

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