ClinVar Miner

List of variants in gene combination CYP2R1, PDE3B reported as pathogenic for nutritional disorder

Included ClinVar conditions (116):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_024514.5(CYP2R1):c.296T>C (p.Leu99Pro) rs61495246 0.00107
NM_024514.5(CYP2R1):c.124_137delinsCG (p.Gly42_Leu46delinsArg) rs1848879955
NM_024514.5(CYP2R1):c.367+1G>A rs202011621
NM_024514.5(CYP2R1):c.768dup (p.Leu257fs) rs1422405747

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