ClinVar Miner

List of variants studied for rickets by FAHD UNIT, Department of Genetics, King Faisal Specialist Hospital and Research Centre

Included ClinVar conditions (21):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_000376.3(VDR):c.803T>C (p.Ile268Thr) rs1164008328 0.00001
NM_000376.3(VDR):c.88C>T (p.Arg30Ter) rs121909801 0.00001
NM_000376.3(VDR):c.1036G>A (p.Val346Met) rs267607169
NM_000376.3(VDR):c.2T>G (p.Met1Arg) rs2228570
NM_000376.3(VDR):c.820C>T (p.Arg274Cys) rs757881350
NM_000376.3(VDR):c.885C>A (p.Tyr295Ter) rs121909792

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