ClinVar Miner

List of variants in gene CYP24A1 reported as likely benign for autosomal recessive disease

Included ClinVar conditions (1196):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 17
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HGVS dbSNP gnomAD frequency
NM_000782.5(CYP24A1):c.-400G>A rs73913757 0.04441
NM_000782.5(CYP24A1):c.234T>G (p.Gly78=) rs61755338 0.01605
NM_000782.5(CYP24A1):c.470G>A (p.Arg157Gln) rs35051736 0.00377
NM_000782.5(CYP24A1):c.604G>C (p.Asp202His) rs114579367 0.00192
NM_000782.5(CYP24A1):c.616G>A (p.Glu206Lys) rs115260488 0.00065
NM_000782.5(CYP24A1):c.378G>A (p.Pro126=) rs116104487 0.00062
NM_000782.5(CYP24A1):c.93G>A (p.Thr31=) rs151204685 0.00022
NM_000782.5(CYP24A1):c.753G>A (p.Arg251=) rs377533549 0.00011
NM_000782.5(CYP24A1):c.150C>T (p.Gly50=) rs566481776 0.00009
NM_000782.5(CYP24A1):c.733-9T>C rs895309596 0.00009
NM_000782.5(CYP24A1):c.1083T>C (p.Pro361=) rs147886742 0.00006
NM_000782.5(CYP24A1):c.1020C>T (p.Tyr340=) rs77764129 0.00004
NM_000782.5(CYP24A1):c.439C>T (p.Leu147=) rs774042537 0.00003
NM_000782.5(CYP24A1):c.172C>T (p.Leu58=) rs761949738 0.00001
NM_000782.5(CYP24A1):c.577C>A (p.Leu193Ile) rs377696502 0.00001
NM_000782.5(CYP24A1):c.114G>T (p.Pro38=) rs61749689
NM_000782.5(CYP24A1):c.469C>A (p.Arg157=) rs35873579

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