ClinVar Miner

List of variants in gene CYP27B1 reported as likely benign for not provided

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 260
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000785.4(CYP27B1):c.942G>A (p.Leu314=) rs8176345 0.02124
NM_000785.4(CYP27B1):c.387-160G>A rs35569378 0.00618
NM_000785.4(CYP27B1):c.385G>A (p.Ala129Thr) rs58915677 0.00123
NM_000785.4(CYP27B1):c.1057C>G (p.Pro353Ala) rs151335249 0.00061
NM_000785.4(CYP27B1):c.690G>A (p.Val230=) rs61734540 0.00041
NM_000785.4(CYP27B1):c.1216-18T>G rs188819808 0.00033
NM_000785.4(CYP27B1):c.1505A>G (p.Asn502Ser) rs201629800 0.00033
NM_000785.4(CYP27B1):c.386+10C>T rs376212738 0.00023
NM_000785.4(CYP27B1):c.541G>T (p.Ala181Ser) rs368126466 0.00019
NM_000785.4(CYP27B1):c.387-8C>A rs375741542 0.00016
NM_000785.4(CYP27B1):c.102C>G (p.Arg34=) rs141890302 0.00007
NM_000785.4(CYP27B1):c.54G>A (p.Ala18=) rs537715358 0.00006
NM_000785.4(CYP27B1):c.801C>T (p.His267=) rs150334927 0.00004
NM_000785.4(CYP27B1):c.933G>C (p.Val311=) rs200567715 0.00004
NM_000785.4(CYP27B1):c.987T>C (p.Ala329=) rs764387303 0.00003
NM_000785.4(CYP27B1):c.791-16C>T rs779295082 0.00002
NM_000785.4(CYP27B1):c.1113G>A (p.Lys371=) rs1955341474 0.00001
NM_000785.4(CYP27B1):c.117C>T (p.Asp39=) rs764141450 0.00001
NM_000785.4(CYP27B1):c.1215+20C>T rs182661200 0.00001
NM_000785.4(CYP27B1):c.1353C>G (p.Gly451=) rs752504237 0.00001
NM_000785.4(CYP27B1):c.1395G>A (p.Leu465=) rs1302589800 0.00001
NM_000785.4(CYP27B1):c.318G>A (p.Glu106=) rs1300048405 0.00001
NM_000785.4(CYP27B1):c.609C>T (p.Leu203=) rs1392793756 0.00001
NM_000785.4(CYP27B1):c.645A>G (p.Pro215=) rs937852515 0.00001
NC_000012.12:g.57767202T>A rs113298639
NM_000785.4(CYP27B1):c.1002C>G (p.Ser334=)
NM_000785.4(CYP27B1):c.1008C>T (p.His336=)
NM_000785.4(CYP27B1):c.1017C>T (p.Val339=)
NM_000785.4(CYP27B1):c.1032C>T (p.His344=)
NM_000785.4(CYP27B1):c.1035A>G (p.Ser345=)
NM_000785.4(CYP27B1):c.1041C>T (p.Ile347=)
NM_000785.4(CYP27B1):c.1053G>A (p.Leu351=)
NM_000785.4(CYP27B1):c.1056C>T (p.Ser352=)
NM_000785.4(CYP27B1):c.1059T>G (p.Pro353=)
NM_000785.4(CYP27B1):c.105G>A (p.Arg35=)
NM_000785.4(CYP27B1):c.1077C>T (p.Pro359=)
NM_000785.4(CYP27B1):c.1086T>A (p.Thr362=)
NM_000785.4(CYP27B1):c.1104C>T (p.Pro368=)
NM_000785.4(CYP27B1):c.1108C>T (p.Leu370=)
NM_000785.4(CYP27B1):c.1116G>A (p.Ala372=)
NM_000785.4(CYP27B1):c.1116G>C (p.Ala372=)
NM_000785.4(CYP27B1):c.1119G>A (p.Val373=)
NM_000785.4(CYP27B1):c.1128A>G (p.Glu376=)
NM_000785.4(CYP27B1):c.1136+11A>G
NM_000785.4(CYP27B1):c.1136+11A>T
NM_000785.4(CYP27B1):c.1136+14A>G
NM_000785.4(CYP27B1):c.1136+15G>A
NM_000785.4(CYP27B1):c.1136+17G>A
NM_000785.4(CYP27B1):c.1136+17G>C
NM_000785.4(CYP27B1):c.1136+18G>A
NM_000785.4(CYP27B1):c.1136+19A>T
NM_000785.4(CYP27B1):c.1136+20G>A
NM_000785.4(CYP27B1):c.1136+7G>A
NM_000785.4(CYP27B1):c.1137-12T>C
NM_000785.4(CYP27B1):c.1137-7A>T
NM_000785.4(CYP27B1):c.1140G>A (p.Leu380=)
NM_000785.4(CYP27B1):c.1146T>C (p.Pro382=)
NM_000785.4(CYP27B1):c.1182C>T (p.Asp394=)
NM_000785.4(CYP27B1):c.1188T>C (p.His396=)
NM_000785.4(CYP27B1):c.1191G>C (p.Val397=)
NM_000785.4(CYP27B1):c.1197C>T (p.Asp399=)
NM_000785.4(CYP27B1):c.1215+10G>A
NM_000785.4(CYP27B1):c.1215+11C>G
NM_000785.4(CYP27B1):c.1215+12C>A
NM_000785.4(CYP27B1):c.1215+12C>G
NM_000785.4(CYP27B1):c.1215+13T>C
NM_000785.4(CYP27B1):c.1215+15T>G
NM_000785.4(CYP27B1):c.1215+19C>T
NM_000785.4(CYP27B1):c.1219C>T (p.Leu407=)
NM_000785.4(CYP27B1):c.1230G>A (p.Leu410=)
NM_000785.4(CYP27B1):c.1230G>C (p.Leu410=) rs1200364118
NM_000785.4(CYP27B1):c.1239T>C (p.Tyr413=)
NM_000785.4(CYP27B1):c.1248A>G (p.Ser416=)
NM_000785.4(CYP27B1):c.1263G>A (p.Gln421=)
NM_000785.4(CYP27B1):c.1266C>T (p.Phe422=)
NM_000785.4(CYP27B1):c.126C>G (p.Gly42=)
NM_000785.4(CYP27B1):c.126C>T (p.Gly42=)
NM_000785.4(CYP27B1):c.1284T>C (p.Phe428=)
NM_000785.4(CYP27B1):c.129C>A (p.Pro43=)
NM_000785.4(CYP27B1):c.129C>T (p.Pro43=)
NM_000785.4(CYP27B1):c.1305G>A (p.Gly435=)
NM_000785.4(CYP27B1):c.1308G>A (p.Glu436=)
NM_000785.4(CYP27B1):c.1320C>T (p.Pro440=)
NM_000785.4(CYP27B1):c.1332A>G (p.Ala444=)
NM_000785.4(CYP27B1):c.1332A>T (p.Ala444=)
NM_000785.4(CYP27B1):c.1356G>A (p.Lys452=)
NM_000785.4(CYP27B1):c.1377C>A (p.Arg459=)
NM_000785.4(CYP27B1):c.138C>T (p.Pro46=)
NM_000785.4(CYP27B1):c.1392A>G (p.Glu464=)
NM_000785.4(CYP27B1):c.1413+10C>G
NM_000785.4(CYP27B1):c.1413+10C>T
NM_000785.4(CYP27B1):c.1413+15T>C
NM_000785.4(CYP27B1):c.1413+16T>G
NM_000785.4(CYP27B1):c.1414-14T>C
NM_000785.4(CYP27B1):c.1414-19C>G
NM_000785.4(CYP27B1):c.1414-19C>T
NM_000785.4(CYP27B1):c.1414-5T>C
NM_000785.4(CYP27B1):c.1414-6T>C rs1595117140
NM_000785.4(CYP27B1):c.1431G>A (p.Glu477=)
NM_000785.4(CYP27B1):c.1434G>A (p.Val478=)
NM_000785.4(CYP27B1):c.1443G>A (p.Glu481=)
NM_000785.4(CYP27B1):c.1479T>A (p.Thr493=)
NM_000785.4(CYP27B1):c.147G>C (p.Leu49=)
NM_000785.4(CYP27B1):c.1491T>G (p.Pro497=)
NM_000785.4(CYP27B1):c.1503C>A (p.Ile501=)
NM_000785.4(CYP27B1):c.150C>G (p.Ala50=)
NM_000785.4(CYP27B1):c.1512G>A (p.Gln504=)
NM_000785.4(CYP27B1):c.1521C>T (p.Asp507=)
NM_000785.4(CYP27B1):c.171G>A (p.Gly57=)
NM_000785.4(CYP27B1):c.177G>A (p.Ser59=)
NM_000785.4(CYP27B1):c.183A>G (p.Leu61=)
NM_000785.4(CYP27B1):c.189G>A (p.Glu63=)
NM_000785.4(CYP27B1):c.195+12C>T
NM_000785.4(CYP27B1):c.195+13_195+26del
NM_000785.4(CYP27B1):c.195+7A>C
NM_000785.4(CYP27B1):c.196-10G>C
NM_000785.4(CYP27B1):c.196-10G>T
NM_000785.4(CYP27B1):c.196-11C>T
NM_000785.4(CYP27B1):c.196-12C>T
NM_000785.4(CYP27B1):c.196-14G>C
NM_000785.4(CYP27B1):c.196-16G>C
NM_000785.4(CYP27B1):c.196-19G>A
NM_000785.4(CYP27B1):c.196-20C>T
NM_000785.4(CYP27B1):c.196-4C>G
NM_000785.4(CYP27B1):c.196-5_196-3del
NM_000785.4(CYP27B1):c.196-9C>A
NM_000785.4(CYP27B1):c.216C>T (p.Phe72=)
NM_000785.4(CYP27B1):c.222G>A (p.Pro74=)
NM_000785.4(CYP27B1):c.234C>T (p.Ala78=)
NM_000785.4(CYP27B1):c.246A>G (p.Thr82=)
NM_000785.4(CYP27B1):c.24C>T (p.Ala8=)
NM_000785.4(CYP27B1):c.255C>T (p.Thr85=)
NM_000785.4(CYP27B1):c.258G>A (p.Val86=)
NM_000785.4(CYP27B1):c.264G>T (p.Val88=)
NM_000785.4(CYP27B1):c.276A>C (p.Ala92=)
NM_000785.4(CYP27B1):c.276A>G (p.Ala92=)
NM_000785.4(CYP27B1):c.279C>G (p.Leu93=)
NM_000785.4(CYP27B1):c.279C>T (p.Leu93=)
NM_000785.4(CYP27B1):c.285G>A (p.Glu95=)
NM_000785.4(CYP27B1):c.309C>T (p.Pro103=)
NM_000785.4(CYP27B1):c.315C>T (p.Pro105=)
NM_000785.4(CYP27B1):c.327C>T (p.Ser109=)
NM_000785.4(CYP27B1):c.333G>A (p.Ser111=)
NM_000785.4(CYP27B1):c.342G>A (p.Thr114=)
NM_000785.4(CYP27B1):c.351C>G (p.Arg117=)
NM_000785.4(CYP27B1):c.357C>T (p.Cys119=)
NM_000785.4(CYP27B1):c.364C>A (p.Arg122=)
NM_000785.4(CYP27B1):c.36C>T (p.Phe12=)
NM_000785.4(CYP27B1):c.372C>T (p.Cys124=) rs771410002
NM_000785.4(CYP27B1):c.376C>T (p.Leu126=)
NM_000785.4(CYP27B1):c.378G>A (p.Leu126=)
NM_000785.4(CYP27B1):c.378G>T (p.Leu126=)
NM_000785.4(CYP27B1):c.381C>G (p.Leu127=)
NM_000785.4(CYP27B1):c.381C>T (p.Leu127=)
NM_000785.4(CYP27B1):c.386+10C>G
NM_000785.4(CYP27B1):c.386+11T>G
NM_000785.4(CYP27B1):c.386+14G>A rs373607899
NM_000785.4(CYP27B1):c.386+16C>T rs747135985
NM_000785.4(CYP27B1):c.386+17C>T
NM_000785.4(CYP27B1):c.386+18C>G
NM_000785.4(CYP27B1):c.386+19C>A
NM_000785.4(CYP27B1):c.386+19C>T
NM_000785.4(CYP27B1):c.386+20A>G
NM_000785.4(CYP27B1):c.386+8T>C
NM_000785.4(CYP27B1):c.387-16C>T
NM_000785.4(CYP27B1):c.393C>G (p.Gly131=)
NM_000785.4(CYP27B1):c.396A>G (p.Glu132=)
NM_000785.4(CYP27B1):c.429G>A (p.Pro143=)
NM_000785.4(CYP27B1):c.42C>T (p.Arg14=)
NM_000785.4(CYP27B1):c.453C>T (p.Ala151=)
NM_000785.4(CYP27B1):c.465C>T (p.Ala155=)
NM_000785.4(CYP27B1):c.480C>T (p.Asn160=)
NM_000785.4(CYP27B1):c.489C>T (p.Cys163=)
NM_000785.4(CYP27B1):c.498G>A (p.Val166=)
NM_000785.4(CYP27B1):c.507G>T (p.Leu169=)
NM_000785.4(CYP27B1):c.522A>T (p.Gly174=)
NM_000785.4(CYP27B1):c.531G>A (p.Thr177=)
NM_000785.4(CYP27B1):c.531G>C (p.Thr177=)
NM_000785.4(CYP27B1):c.531G>T (p.Thr177=) rs143165542
NM_000785.4(CYP27B1):c.534G>A (p.Gly178=)
NM_000785.4(CYP27B1):c.540C>T (p.Pro180=)
NM_000785.4(CYP27B1):c.543C>T (p.Ala181=)
NM_000785.4(CYP27B1):c.546G>C (p.Leu182=)
NM_000785.4(CYP27B1):c.54G>C (p.Ala18=)
NM_000785.4(CYP27B1):c.54G>T (p.Ala18=)
NM_000785.4(CYP27B1):c.555C>T (p.Asp185=)
NM_000785.4(CYP27B1):c.567A>G (p.Glu189=)
NM_000785.4(CYP27B1):c.57C>G (p.Pro19=)
NM_000785.4(CYP27B1):c.589+20T>C
NM_000785.4(CYP27B1):c.590-11C>G
NM_000785.4(CYP27B1):c.590-17C>T
NM_000785.4(CYP27B1):c.590-19G>A
NM_000785.4(CYP27B1):c.590-5A>G
NM_000785.4(CYP27B1):c.590-6G>A
NM_000785.4(CYP27B1):c.600G>A (p.Ala200=)
NM_000785.4(CYP27B1):c.600G>C (p.Ala200=)
NM_000785.4(CYP27B1):c.615G>A (p.Ser205=)
NM_000785.4(CYP27B1):c.615G>T (p.Ser205=)
NM_000785.4(CYP27B1):c.627C>T (p.Cys209=)
NM_000785.4(CYP27B1):c.628C>T (p.Leu210=)
NM_000785.4(CYP27B1):c.642G>A (p.Val214=)
NM_000785.4(CYP27B1):c.648C>G (p.Pro216=)
NM_000785.4(CYP27B1):c.648C>T (p.Pro216=)
NM_000785.4(CYP27B1):c.654G>A (p.Thr218=)
NM_000785.4(CYP27B1):c.657G>A (p.Glu219=)
NM_000785.4(CYP27B1):c.657G>C (p.Glu219Asp)
NM_000785.4(CYP27B1):c.669C>A (p.Arg223=) rs765241743
NM_000785.4(CYP27B1):c.669C>T (p.Arg223=)
NM_000785.4(CYP27B1):c.66C>A (p.Gly22=)
NM_000785.4(CYP27B1):c.66C>T (p.Gly22=)
NM_000785.4(CYP27B1):c.678C>A (p.Gly226=)
NM_000785.4(CYP27B1):c.678C>T (p.Gly226=)
NM_000785.4(CYP27B1):c.696G>A (p.Thr232=)
NM_000785.4(CYP27B1):c.711G>A (p.Ala237=)
NM_000785.4(CYP27B1):c.717C>A (p.Pro239=)
NM_000785.4(CYP27B1):c.72C>G (p.Ser24=)
NM_000785.4(CYP27B1):c.744G>A (p.Gly248=)
NM_000785.4(CYP27B1):c.753C>G (p.Gly251=)
NM_000785.4(CYP27B1):c.753C>T (p.Gly251=)
NM_000785.4(CYP27B1):c.75A>G (p.Leu25=)
NM_000785.4(CYP27B1):c.783T>C (p.Phe261=)
NM_000785.4(CYP27B1):c.790+13T>A
NM_000785.4(CYP27B1):c.790+13T>C
NM_000785.4(CYP27B1):c.790+13T>G
NM_000785.4(CYP27B1):c.790+15G>A
NM_000785.4(CYP27B1):c.790+7C>G
NM_000785.4(CYP27B1):c.790+8A>C
NM_000785.4(CYP27B1):c.790+8A>G
NM_000785.4(CYP27B1):c.791-17G>A
NM_000785.4(CYP27B1):c.791-19G>A
NM_000785.4(CYP27B1):c.791-20C>A
NM_000785.4(CYP27B1):c.791-20C>T
NM_000785.4(CYP27B1):c.791-20del
NM_000785.4(CYP27B1):c.791-5C>T
NM_000785.4(CYP27B1):c.791-7C>G rs756226286
NM_000785.4(CYP27B1):c.791-8C>T
NM_000785.4(CYP27B1):c.791-9C>T
NM_000785.4(CYP27B1):c.81C>T (p.Tyr27=)
NM_000785.4(CYP27B1):c.843A>G (p.Gly281=)
NM_000785.4(CYP27B1):c.849C>G (p.Pro283=)
NM_000785.4(CYP27B1):c.855G>A (p.Lys285=)
NM_000785.4(CYP27B1):c.864G>A (p.Glu288=)
NM_000785.4(CYP27B1):c.873G>T (p.Ala291=)
NM_000785.4(CYP27B1):c.90C>T (p.Tyr30=)
NM_000785.4(CYP27B1):c.914A>C (p.Gln305Pro)
NM_000785.4(CYP27B1):c.93C>T (p.His31=)
NM_000785.4(CYP27B1):c.945A>G (p.Leu315=)
NM_000785.4(CYP27B1):c.946T>C (p.Leu316=)
NM_000785.4(CYP27B1):c.951G>A (p.Ala317=)
NM_000785.4(CYP27B1):c.963+17G>C
NM_000785.4(CYP27B1):c.963+7T>C
NM_000785.4(CYP27B1):c.963+9C>G
NM_000785.4(CYP27B1):c.964-13A>C
NM_000785.4(CYP27B1):c.964-13A>G
NM_000785.4(CYP27B1):c.964-9G>C
NM_000785.4(CYP27B1):c.96A>C (p.Ser32=)
NM_000785.4(CYP27B1):c.975G>A (p.Thr325=)
NM_000785.4(CYP27B1):c.981T>C (p.Ser327=) rs1351136873
NM_000785.4(CYP27B1):c.990G>A (p.Leu330=)
NM_000785.4(CYP27B1):c.99A>G (p.Ala33=)

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.