ClinVar Miner

List of variants in gene CYP24A1 studied for abdominal and pelvic region disorder

Included ClinVar conditions (902):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 12
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HGVS dbSNP
NM_000782.5(CYP24A1):c.1039C>T (p.Gln347Ter) rs777947329
NM_000782.5(CYP24A1):c.1186C>T (p.Arg396Trp) rs114368325
NM_000782.5(CYP24A1):c.1226T>C (p.Leu409Ser) rs6068812
NM_000782.5(CYP24A1):c.1424_1425CT[1] (p.Cys477fs) rs876657376
NM_000782.5(CYP24A1):c.425_427AAG[1] (p.Glu143del) rs777676129
NM_000782.5(CYP24A1):c.443T>C (p.Leu148Pro) rs139763321
NM_000782.5(CYP24A1):c.451G>T (p.Glu151Ter) rs387907323
NM_000782.5(CYP24A1):c.469C>T (p.Arg157Trp) rs35873579
NM_000782.5(CYP24A1):c.476G>A (p.Arg159Gln) rs387907322
NM_000782.5(CYP24A1):c.552C>T (p.Ala184=) rs2296241
NM_000782.5(CYP24A1):c.62del (p.Pro21fs) rs774432244
NM_000782.5(CYP24A1):c.964G>A (p.Glu322Lys) rs387907324

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