ClinVar Miner

List of variants in gene CYP2R1, PDE3B studied for vitamin D-dependent rickets

Included ClinVar conditions (7):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 96
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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.107C>T (p.Pro36Leu) rs202122669 0.00075
NM_024514.5(CYP2R1):c.1120dup (p.Ile374fs) rs782459395 0.00058
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.253T>C (p.Ser85Pro) rs1000712687 0.00006
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.1363C>T (p.Arg455Trp) rs146366698 0.00003
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.577C>A (p.Leu193Met) rs1269319852 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.-2C>G
NM_024514.5(CYP2R1):c.1000+1G>A
NM_024514.5(CYP2R1):c.1004A>G (p.Gln335Arg)
NM_024514.5(CYP2R1):c.100A>T (p.Arg34Trp)
NM_024514.5(CYP2R1):c.1075C>T (p.Pro359Ser)
NM_024514.5(CYP2R1):c.1087G>A (p.Ala363Thr)
NM_024514.5(CYP2R1):c.1115G>T (p.Cys372Phe)
NM_024514.5(CYP2R1):c.113G>T (p.Gly38Val)
NM_024514.5(CYP2R1):c.1181T>C (p.Ile394Thr) rs1848277685
NM_024514.5(CYP2R1):c.121C>A (p.Pro41Thr)
NM_024514.5(CYP2R1):c.121C>G (p.Pro41Ala)
NM_024514.5(CYP2R1):c.1234A>G (p.Lys412Glu)
NM_024514.5(CYP2R1):c.124_137delinsCG (p.Gly42_Leu46delinsArg) rs1848879955
NM_024514.5(CYP2R1):c.1271G>A (p.Arg424Gln)
NM_024514.5(CYP2R1):c.128_136del (p.40PPG[1])
NM_024514.5(CYP2R1):c.1291T>C (p.Tyr431His)
NM_024514.5(CYP2R1):c.1291T>G (p.Tyr431Asp)
NM_024514.5(CYP2R1):c.1295T>C (p.Phe432Ser)
NM_024514.5(CYP2R1):c.1298C>G (p.Ala433Gly)
NM_024514.5(CYP2R1):c.1302G>A (p.Lys434=)
NM_024514.5(CYP2R1):c.1333A>G (p.Arg445Gly)
NM_024514.5(CYP2R1):c.1348G>C (p.Gly450Arg) rs1565176051
NM_024514.5(CYP2R1):c.1358T>G (p.Leu453Trp)
NM_024514.5(CYP2R1):c.13T>G (p.Trp5Gly)
NM_024514.5(CYP2R1):c.1404G>C (p.Arg468Ser)
NM_024514.5(CYP2R1):c.1408C>A (p.His470Asn)
NM_024514.5(CYP2R1):c.1432G>C (p.Val478Leu)
NM_024514.5(CYP2R1):c.1435C>G (p.Pro479Ala)
NM_024514.5(CYP2R1):c.1477C>A (p.Pro493Thr)
NM_024514.5(CYP2R1):c.1488C>G (p.Ile496Met)
NM_024514.5(CYP2R1):c.1498A>T (p.Arg500Ter)
NM_024514.5(CYP2R1):c.184C>T (p.Pro62Ser)
NM_024514.5(CYP2R1):c.199A>G (p.Arg67Gly)
NM_024514.5(CYP2R1):c.1A>T (p.Met1Leu)
NM_024514.5(CYP2R1):c.219C>A (p.Tyr73Ter)
NM_024514.5(CYP2R1):c.226-1G>T
NM_024514.5(CYP2R1):c.245G>A (p.Gly82Glu)
NM_024514.5(CYP2R1):c.272G>A (p.Gly91Asp)
NM_024514.5(CYP2R1):c.289G>T (p.Glu97Ter)
NM_024514.5(CYP2R1):c.290A>G (p.Glu97Gly)
NM_024514.5(CYP2R1):c.306A>C (p.Gln102His)
NM_024514.5(CYP2R1):c.309C>T (p.Ser103=) rs111824082
NM_024514.5(CYP2R1):c.31_40dup (p.Leu14fs)
NM_024514.5(CYP2R1):c.367+1G>A rs202011621
NM_024514.5(CYP2R1):c.371T>C (p.Leu124Ser)
NM_024514.5(CYP2R1):c.395G>A (p.Gly132Glu)
NM_024514.5(CYP2R1):c.412C>T (p.Arg138Ter)
NM_024514.5(CYP2R1):c.416T>G (p.Leu139Ter)
NM_024514.5(CYP2R1):c.443G>T (p.Gly148Val)
NM_024514.5(CYP2R1):c.495C>G (p.Phe165Leu)
NM_024514.5(CYP2R1):c.497A>G (p.Asn166Ser)
NM_024514.5(CYP2R1):c.505A>G (p.Ile169Val)
NM_024514.5(CYP2R1):c.518A>G (p.Lys173Arg)
NM_024514.5(CYP2R1):c.525A>G (p.Arg175=)
NM_024514.5(CYP2R1):c.559G>A (p.Val187Ile)
NM_024514.5(CYP2R1):c.563C>A (p.Ser188Ter)
NM_024514.5(CYP2R1):c.582C>G (p.Ile194Met)
NM_024514.5(CYP2R1):c.628A>G (p.Met210Val)
NM_024514.5(CYP2R1):c.628_629del (p.Met210fs)
NM_024514.5(CYP2R1):c.649A>G (p.Asn217Asp)
NM_024514.5(CYP2R1):c.661G>A (p.Ala221Thr)
NM_024514.5(CYP2R1):c.678CTT[1] (p.Phe227del)
NM_024514.5(CYP2R1):c.70G>C (p.Ala24Pro)
NM_024514.5(CYP2R1):c.726dup (p.His243fs)
NM_024514.5(CYP2R1):c.727C>T (p.His243Tyr)
NM_024514.5(CYP2R1):c.759C>G (p.Val253=)
NM_024514.5(CYP2R1):c.768dup (p.Leu257fs) rs1422405747
NM_024514.5(CYP2R1):c.815T>C (p.Leu272Pro)
NM_024514.5(CYP2R1):c.858A>C (p.Gln286His)
NM_024514.5(CYP2R1):c.953T>G (p.Val318Gly)
NM_024514.5(CYP2R1):c.958C>T (p.Arg320Trp)
NM_024514.5(CYP2R1):c.974T>C (p.Phe325Ser)

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