ClinVar Miner

List of variants in gene CYP24A1 reported by Fulgent Genetics, Fulgent Genetics

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 31
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000782.5(CYP24A1):c.234T>G (p.Gly78=) rs61755338 0.01605
NM_000782.5(CYP24A1):c.1186C>T (p.Arg396Trp) rs114368325 0.00079
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.533A>G (p.Lys178Arg) rs146404747 0.00041
NM_000782.5(CYP24A1):c.1207G>A (p.Val403Ile) rs373243941 0.00022
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.733-9T>C rs895309596 0.00009
NM_000782.5(CYP24A1):c.598G>A (p.Val200Ile) rs770028088 0.00008
NM_000782.5(CYP24A1):c.101C>T (p.Thr34Met) rs550482750 0.00006
NM_000782.5(CYP24A1):c.1083T>C (p.Pro361=) rs147886742 0.00006
NM_000782.5(CYP24A1):c.1187G>A (p.Arg396Gln) rs143934667 0.00006
NM_000782.5(CYP24A1):c.296T>C (p.Met99Thr) rs748676671 0.00006
NM_000782.5(CYP24A1):c.425A>G (p.Lys142Arg) rs760244872 0.00006
NM_000782.5(CYP24A1):c.73C>G (p.Pro25Ala) rs140851407 0.00006
NM_000782.5(CYP24A1):c.1219T>A (p.Tyr407Asn) rs140189382 0.00004
NM_000782.5(CYP24A1):c.439C>T (p.Leu147=) rs774042537 0.00003
NM_000782.5(CYP24A1):c.1396C>T (p.Arg466Ter) rs988715134 0.00002
NM_000782.5(CYP24A1):c.172C>T (p.Leu58=) rs761949738 0.00001
NM_000782.5(CYP24A1):c.175C>T (p.Pro59Ser) rs776627911 0.00001
NM_000782.5(CYP24A1):c.577C>A (p.Leu193Ile) rs377696502 0.00001
NM_000782.5(CYP24A1):c.776T>C (p.Leu259Pro) rs373902459 0.00001
NM_000782.5(CYP24A1):c.815C>G (p.Thr272Ser) rs1413437455 0.00001
NM_000782.5(CYP24A1):c.904C>T (p.Leu302Phe) rs1238041646 0.00001
GRCh37/hg19 20q13.2(chr20:52769985-52790525)
NM_000782.5(CYP24A1):c.1103C>A (p.Ala368Glu) rs1227845728
NM_000782.5(CYP24A1):c.114G>T (p.Pro38=) rs61749689
NM_000782.5(CYP24A1):c.469C>A (p.Arg157=) rs35873579
NM_000782.5(CYP24A1):c.469C>T (p.Arg157Trp) rs35873579
NM_000782.5(CYP24A1):c.62del (p.Pro21fs) rs774432244

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.