ClinVar Miner

List of variants in gene CYP2R1 studied for bone remodeling disease

Included ClinVar conditions (104):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 25
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HGVS dbSNP gnomAD frequency
NM_024514.5(CYP2R1):c.1059C>T (p.Asp353=) rs117913124 0.01543
NM_024514.5(CYP2R1):c.651T>C (p.Asn217=) rs111576400 0.00790
NM_024514.5(CYP2R1):c.368-12A>T rs189127299 0.00447
NM_024514.5(CYP2R1):c.296T>C (p.Leu99Pro) rs61495246 0.00107
NM_024514.5(CYP2R1):c.375C>T (p.Leu125=) rs145794885 0.00091
NM_024514.5(CYP2R1):c.467C>G (p.Ser156Cys) rs140947977 0.00081
NM_024514.5(CYP2R1):c.1330+17G>A rs782405402 0.00014
NM_024514.5(CYP2R1):c.851T>C (p.Met284Thr) rs200183599 0.00014
NM_024514.5(CYP2R1):c.873A>G (p.Pro291=) rs184549196 0.00013
NM_024514.5(CYP2R1):c.352A>G (p.Met118Val) rs375085420 0.00007
NM_024514.5(CYP2R1):c.995T>C (p.Ile332Thr) rs368317393 0.00006
NM_024514.5(CYP2R1):c.421G>A (p.Val141Ile) rs782437679 0.00004
NM_024514.5(CYP2R1):c.1166T>A (p.Val389Glu) rs782535484 0.00002
NM_024514.5(CYP2R1):c.1364G>A (p.Arg455Gln) rs781875625 0.00002
NM_024514.5(CYP2R1):c.433C>T (p.Arg145Ter) rs576642411 0.00002
NM_024514.5(CYP2R1):c.852G>A (p.Met284Ile) rs782503732 0.00002
NM_024514.5(CYP2R1):c.1001-5G>C rs782338771 0.00001
NM_024514.5(CYP2R1):c.595C>T (p.Arg199Ter) rs782285382 0.00001
NM_024514.5(CYP2R1):c.950A>G (p.Asn317Ser) rs147626987 0.00001
NM_024514.5(CYP2R1):c.1181T>C (p.Ile394Thr) rs1848277685
NM_024514.5(CYP2R1):c.124_137delinsCG (p.Gly42_Leu46delinsArg) rs1848879955
NM_024514.5(CYP2R1):c.1348G>C (p.Gly450Arg) rs1565176051
NM_024514.5(CYP2R1):c.309C>T (p.Ser103=) rs111824082
NM_024514.5(CYP2R1):c.367+1G>A rs202011621
NM_024514.5(CYP2R1):c.768dup (p.Leu257fs) rs1422405747

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