ClinVar Miner

List of variants in gene CYP27A1 reported as uncertain significance for Cholestanol storage disease

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 100
Download table as spreadsheet
HGVS dbSNP
NM_000784.3(CYP27A1):c.-162C>T rs886055629
NM_000784.3(CYP27A1):c.-182C>T rs886055628
NM_000784.3(CYP27A1):c.-205C>A rs187723732
NM_000784.3(CYP27A1):c.-335C>T rs528284503
NM_000784.3(CYP27A1):c.-370T>C rs182545847
NM_000784.4(CYP27A1):c.*153G>C rs886055631
NM_000784.4(CYP27A1):c.*195G>C rs886055632
NM_000784.4(CYP27A1):c.*209G>A
NM_000784.4(CYP27A1):c.-6C>T rs199891090
NM_000784.4(CYP27A1):c.1017+5G>A rs370304209
NM_000784.4(CYP27A1):c.1017G>A (p.Thr339=) rs200553205
NM_000784.4(CYP27A1):c.1017G>T (p.Thr339=) rs200553205
NM_000784.4(CYP27A1):c.1028C>G (p.Thr343Arg) rs372194079
NM_000784.4(CYP27A1):c.1055C>T (p.Ser352Leu) rs780927834
NM_000784.4(CYP27A1):c.1059G>T (p.Lys353Asn)
NM_000784.4(CYP27A1):c.1114G>A (p.Gly372Arg) rs369969903
NM_000784.4(CYP27A1):c.1121T>A (p.Val374Glu)
NM_000784.4(CYP27A1):c.1148T>A (p.Met383Lys) rs539356203
NM_000784.4(CYP27A1):c.1151C>T (p.Pro384Leu) rs41272687
NM_000784.4(CYP27A1):c.1174G>A (p.Glu392Lys) rs1553616443
NM_000784.4(CYP27A1):c.1175A>C (p.Glu392Ala) rs1245201394
NM_000784.4(CYP27A1):c.1183C>A (p.Arg395Ser) rs121908096
NM_000784.4(CYP27A1):c.1184+3A>G
NM_000784.4(CYP27A1):c.1184+9G>T rs200457116
NM_000784.4(CYP27A1):c.1184G>A (p.Arg395His) rs587778778
NM_000784.4(CYP27A1):c.1195G>T (p.Val399Leu)
NM_000784.4(CYP27A1):c.1209C>G (p.Asn403Lys) rs587778781
NM_000784.4(CYP27A1):c.1309G>T (p.Ala437Ser)
NM_000784.4(CYP27A1):c.130C>T (p.Pro44Ser)
NM_000784.4(CYP27A1):c.1369A>G (p.Thr457Ala)
NM_000784.4(CYP27A1):c.1435C>T (p.Arg479Cys) rs72551322
NM_000784.4(CYP27A1):c.1436G>A (p.Arg479His) rs199638075
NM_000784.4(CYP27A1):c.1494G>C (p.Lys498Asn) rs377290147
NM_000784.4(CYP27A1):c.1514C>T (p.Thr505Met)
NM_000784.4(CYP27A1):c.1514_1516del (p.Thr505_Gly506delinsArg) rs1400183633
NM_000784.4(CYP27A1):c.1515G>A (p.Thr505=) rs886656814
NM_000784.4(CYP27A1):c.1537C>T (p.Arg513Cys) rs560108684
NM_000784.4(CYP27A1):c.1538G>A (p.Arg513His) rs144701596
NM_000784.4(CYP27A1):c.1541T>C (p.Ile514Thr)
NM_000784.4(CYP27A1):c.1559A>C (p.Lys520Thr)
NM_000784.4(CYP27A1):c.1582C>T (p.Gln528Ter) rs376609492
NM_000784.4(CYP27A1):c.1588C>T (p.Gln530Ter) rs747389432
NM_000784.4(CYP27A1):c.1589del (p.Gln530fs) rs1553616552
NM_000784.4(CYP27A1):c.1591del (p.Cys531fs) rs755723759
NM_000784.4(CYP27A1):c.1596del (p.Ter532TrpextTer?) rs1553616555
NM_000784.4(CYP27A1):c.172GAG[1] (p.Glu59del) rs766316288
NM_000784.4(CYP27A1):c.197T>C (p.Leu66Pro)
NM_000784.4(CYP27A1):c.1A>G (p.Met1Val) rs1446633660
NM_000784.4(CYP27A1):c.201CTT[2] (p.Phe70del) rs774193477
NM_000784.4(CYP27A1):c.203T>G (p.Phe68Cys) rs587780327
NM_000784.4(CYP27A1):c.215T>A (p.Leu72Gln) rs138189735
NM_000784.4(CYP27A1):c.241C>A (p.Leu81Met) rs370498798
NM_000784.4(CYP27A1):c.276C>T (p.Tyr92=) rs141519183
NM_000784.4(CYP27A1):c.2T>C (p.Met1Thr) rs759003992
NM_000784.4(CYP27A1):c.309G>A (p.Gln103=)
NM_000784.4(CYP27A1):c.322C>T (p.Leu108=)
NM_000784.4(CYP27A1):c.344A>G (p.Glu115Gly)
NM_000784.4(CYP27A1):c.355C>T (p.Arg119Trp) rs369294392
NM_000784.4(CYP27A1):c.368A>C (p.Lys123Thr)
NM_000784.4(CYP27A1):c.404A>G (p.Glu135Gly)
NM_000784.4(CYP27A1):c.409C>T (p.Arg137Trp) rs72551312
NM_000784.4(CYP27A1):c.410G>A (p.Arg137Gln) rs587778818
NM_000784.4(CYP27A1):c.425T>C (p.Leu142Pro) rs369363177
NM_000784.4(CYP27A1):c.435G>T (p.Gly145=) rs587778796
NM_000784.4(CYP27A1):c.447-3C>T
NM_000784.4(CYP27A1):c.472C>T (p.Arg158Cys) rs774541162
NM_000784.4(CYP27A1):c.491G>A (p.Arg164Gln) rs148417330
NM_000784.4(CYP27A1):c.491G>C (p.Arg164Pro) rs148417330
NM_000784.4(CYP27A1):c.49_75del (p.Gly17_Ala25del) rs1553614280
NM_000784.4(CYP27A1):c.504A>T (p.Pro168=) rs142623022
NM_000784.4(CYP27A1):c.507G>A (p.Ala169=)
NM_000784.4(CYP27A1):c.515C>A (p.Ala172Glu)
NM_000784.4(CYP27A1):c.518T>C (p.Leu173Pro)
NM_000784.4(CYP27A1):c.525G>A (p.Thr175=)
NM_000784.4(CYP27A1):c.527A>G (p.Asp176Gly) rs748325824
NM_000784.4(CYP27A1):c.536A>G (p.Asn179Ser) rs145080072
NM_000784.4(CYP27A1):c.545T>C (p.Ile182Thr) rs556745324
NM_000784.4(CYP27A1):c.578G>A (p.Arg193Gln) rs181649030
NM_000784.4(CYP27A1):c.586_587del (p.Ser196fs) rs758739930
NM_000784.4(CYP27A1):c.613A>G (p.Met205Val) rs147321244
NM_000784.4(CYP27A1):c.614T>C (p.Met205Thr)
NM_000784.4(CYP27A1):c.646+4C>T rs191313794
NM_000784.4(CYP27A1):c.659T>A (p.Ile220Asn) rs1559392536
NM_000784.4(CYP27A1):c.666C>T (p.Phe222=) rs751692931
NM_000784.4(CYP27A1):c.674G>A (p.Arg225His) rs753275244
NM_000784.4(CYP27A1):c.701C>T (p.Pro234Leu)
NM_000784.4(CYP27A1):c.702C>T (p.Pro234=) rs371636461
NM_000784.4(CYP27A1):c.703G>A (p.Glu235Lys) rs149897566
NM_000784.4(CYP27A1):c.712G>A (p.Val238Met) rs199691576
NM_000784.4(CYP27A1):c.721_723dup (p.Val241dup) rs1553616276
NM_000784.4(CYP27A1):c.747G>A (p.Gln249=) rs764766872
NM_000784.4(CYP27A1):c.76_99del (p.Arg26_Ala33del) rs1188925314
NM_000784.4(CYP27A1):c.789C>T (p.Pro263=) rs143600636
NM_000784.4(CYP27A1):c.792G>A (p.Val264=) rs144018609
NM_000784.4(CYP27A1):c.808C>G (p.Arg270Gly) rs72551318
NM_000784.4(CYP27A1):c.83A>C (p.Lys28Thr) rs371449777
NM_000784.4(CYP27A1):c.859G>A (p.Asp287Asn) rs775027289
NM_000784.4(CYP27A1):c.871G>A (p.Glu291Lys) rs190012697
NM_000784.4(CYP27A1):c.885C>T (p.Ala295=)
NM_000784.4(CYP27A1):c.919G>T (p.Val307Leu) rs779794737

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.