ClinVar Miner

List of variants in gene CYP27B1 studied for not provided

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Gene type:
ClinVar version:
Total variants: 411
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HGVS dbSNP gnomAD frequency
NM_000785.4(CYP27B1):c.1413+113A>C rs4646537 0.04995
NM_000785.4(CYP27B1):c.1414-95C>T rs8176348 0.03459
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.496G>C (p.Val166Leu) rs8176344 0.00170
NM_000785.4(CYP27B1):c.387-39C>A rs111629101 0.00136
NM_000785.4(CYP27B1):c.385G>A (p.Ala129Thr) rs58915677 0.00123
NM_000785.4(CYP27B1):c.1452G>A (p.Ala484=) rs8176349 0.00096
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.40C>T (p.Arg14Cys) rs150648140 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.348C>T (p.His116=) rs372771210 0.00014
NM_000785.4(CYP27B1):c.1286G>A (p.Arg429His) rs568165874 0.00011
NM_000785.4(CYP27B1):c.102C>G (p.Arg34=) rs141890302 0.00007
NM_000785.4(CYP27B1):c.1375C>T (p.Arg459Cys) rs555068245 0.00006
NM_000785.4(CYP27B1):c.54G>A (p.Ala18=) rs537715358 0.00006
NM_000785.4(CYP27B1):c.1358G>A (p.Arg453His) rs759208930 0.00005
NM_000785.4(CYP27B1):c.1166G>A (p.Arg389His) rs118204009 0.00004
NM_000785.4(CYP27B1):c.1226C>T (p.Thr409Ile) rs118204008 0.00004
NM_000785.4(CYP27B1):c.262del (p.Val88fs) rs387906260 0.00004
NM_000785.4(CYP27B1):c.41G>A (p.Arg14His) rs372223837 0.00004
NM_000785.4(CYP27B1):c.511C>T (p.Arg171Cys) rs535463729 0.00004
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.1474C>T (p.Arg492Trp) rs749537609 0.00003
NM_000785.4(CYP27B1):c.164A>T (p.Lys55Met) rs762682469 0.00003
NM_000785.4(CYP27B1):c.626G>C (p.Cys209Ser) rs201503366 0.00003
NM_000785.4(CYP27B1):c.987T>C (p.Ala329=) rs764387303 0.00003
NM_000785.4(CYP27B1):c.1165C>T (p.Arg389Cys) rs118204010 0.00002
NM_000785.4(CYP27B1):c.547G>C (p.Val183Leu) rs893285574 0.00002
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.1357C>T (p.Arg453Cys) rs767480544 0.00001
NM_000785.4(CYP27B1):c.1376G>A (p.Arg459His) rs762550487 0.00001
NM_000785.4(CYP27B1):c.1395G>A (p.Leu465=) rs1302589800 0.00001
NM_000785.4(CYP27B1):c.160_161dup (p.Lys55fs) rs1450111961 0.00001
NM_000785.4(CYP27B1):c.170G>T (p.Gly57Val) rs376304260 0.00001
NM_000785.4(CYP27B1):c.196-2A>G rs772960103 0.00001
NM_000785.4(CYP27B1):c.318G>A (p.Glu106=) rs1300048405 0.00001
NM_000785.4(CYP27B1):c.330C>T (p.Phe110=) rs546648396 0.00001
NM_000785.4(CYP27B1):c.373G>A (p.Gly125Arg) rs1555202494 0.00001
NM_000785.4(CYP27B1):c.388G>A (p.Glu130Lys) rs577603625 0.00001
NM_000785.4(CYP27B1):c.413G>T (p.Arg138Leu) rs1452090388 0.00001
NM_000785.4(CYP27B1):c.428C>T (p.Pro143Leu) rs1222556174 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
NM_000785.4(CYP27B1):c.986C>T (p.Ala329Val) rs1472040668 0.00001
NC_000012.11:g.(?_58156925)_(58157058_?)dup
NC_000012.11:g.(?_58160610)_(58160824_?)del
NC_000012.12:g.57767202T>A rs113298639
NM_000785.4(CYP27B1):c.-8_4dup (p.Met1_Thr2insAsnGlnThrMet) rs755845434
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.1040T>A (p.Ile347Asn) rs556530774
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.1057C>T (p.Pro353Ser)
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.1094C>T (p.Ser365Phe)
NM_000785.4(CYP27B1):c.1096C>T (p.Gln366Ter)
NM_000785.4(CYP27B1):c.1096del (p.Gln366fs)
NM_000785.4(CYP27B1):c.1104C>T (p.Pro368=)
NM_000785.4(CYP27B1):c.1108C>A (p.Leu370Met)
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.1121T>C (p.Val374Ala)
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+1G>T
NM_000785.4(CYP27B1):c.1136+20G>A
NM_000785.4(CYP27B1):c.1136+5G>C
NM_000785.4(CYP27B1):c.1136+7G>A
NM_000785.4(CYP27B1):c.1136+9G>T
NM_000785.4(CYP27B1):c.1137-12T>C
NM_000785.4(CYP27B1):c.1137-6A>G
NM_000785.4(CYP27B1):c.1137-7A>T
NM_000785.4(CYP27B1):c.1140G>A (p.Leu380=)
NM_000785.4(CYP27B1):c.1144C>T (p.Pro382Ser) rs28934607
NM_000785.4(CYP27B1):c.1146T>C (p.Pro382=)
NM_000785.4(CYP27B1):c.1160del (p.Asn387fs)
NM_000785.4(CYP27B1):c.1166_1170dup (p.Pro391fs) rs2140396403
NM_000785.4(CYP27B1):c.1174_1177del (p.Asp392fs) rs1292600354
NM_000785.4(CYP27B1):c.1182C>T (p.Asp394=)
NM_000785.4(CYP27B1):c.1188T>C (p.His396=)
NM_000785.4(CYP27B1):c.1190T>C (p.Val397Ala)
NM_000785.4(CYP27B1):c.1191G>C (p.Val397=)
NM_000785.4(CYP27B1):c.1192G>A (p.Gly398Ser)
NM_000785.4(CYP27B1):c.1197C>T (p.Asp399=)
NM_000785.4(CYP27B1):c.1198T>G (p.Tyr400Asp) rs1955339362
NM_000785.4(CYP27B1):c.1204del (p.Ile402fs)
NM_000785.4(CYP27B1):c.1209del (p.Asn405fs)
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.1215+5G>A rs2140396365
NM_000785.4(CYP27B1):c.1215+5del
NM_000785.4(CYP27B1):c.1216-1G>C rs1382184215
NM_000785.4(CYP27B1):c.1216-20_1315delinsG
NM_000785.4(CYP27B1):c.1217C>T (p.Thr406Met)
NM_000785.4(CYP27B1):c.1218G>A (p.Thr406=)
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.1286G>C (p.Arg429Pro) rs568165874
NM_000785.4(CYP27B1):c.1290_1294dup (p.Arg432fs) rs2140396191
NM_000785.4(CYP27B1):c.1294C>T (p.Arg432Cys)
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.1319_1325dup (p.Phe443fs) rs780950819
NM_000785.4(CYP27B1):c.1320C>T (p.Pro440=)
NM_000785.4(CYP27B1):c.1321del (p.His441fs)
NM_000785.4(CYP27B1):c.1332A>G (p.Ala444=)
NM_000785.4(CYP27B1):c.1332A>T (p.Ala444=)
NM_000785.4(CYP27B1):c.1340C>T (p.Pro447Leu) rs1955336347
NM_000785.4(CYP27B1):c.1352G>T (p.Gly451Val)
NM_000785.4(CYP27B1):c.1356G>A (p.Lys452=)
NM_000785.4(CYP27B1):c.1358G>T (p.Arg453Leu) rs759208930
NM_000785.4(CYP27B1):c.1364G>A (p.Cys455Tyr)
NM_000785.4(CYP27B1):c.1372_1375dup (p.Arg459fs)
NM_000785.4(CYP27B1):c.1376G>T (p.Arg459Leu)
NM_000785.4(CYP27B1):c.1376dup (p.Leu460fs)
NM_000785.4(CYP27B1):c.1377C>A (p.Arg459=)
NM_000785.4(CYP27B1):c.1382C>A (p.Ala461Glu)
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.1453dup (p.Ala485fs)
NM_000785.4(CYP27B1):c.1475G>C (p.Arg492Pro)
NM_000785.4(CYP27B1):c.1479T>A (p.Thr493=)
NM_000785.4(CYP27B1):c.147G>C (p.Leu49=)
NM_000785.4(CYP27B1):c.148G>A (p.Ala50Thr)
NM_000785.4(CYP27B1):c.1491T>G (p.Pro497=)
NM_000785.4(CYP27B1):c.1499G>A (p.Ser500Asn)
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.1517T>G (p.Leu506Trp)
NM_000785.4(CYP27B1):c.1521C>T (p.Asp507=)
NM_000785.4(CYP27B1):c.163A>G (p.Lys55Glu)
NM_000785.4(CYP27B1):c.167G>A (p.Gly56Glu)
NM_000785.4(CYP27B1):c.171G>A (p.Gly57=)
NM_000785.4(CYP27B1):c.171del (p.Leu58fs)
NM_000785.4(CYP27B1):c.171dup (p.Leu58fs) rs763437121
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.201_204delinsCTTCG (p.Gln67fs) rs2140397731
NM_000785.4(CYP27B1):c.216C>T (p.Phe72=)
NM_000785.4(CYP27B1):c.21C>G (p.Tyr7Ter)
NM_000785.4(CYP27B1):c.222G>A (p.Pro74=)
NM_000785.4(CYP27B1):c.228G>A (p.Trp76Ter)
NM_000785.4(CYP27B1):c.230T>C (p.Leu77Pro)
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.24_42dup (p.Val15fs)
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.265_270del (p.Ala89_Ala90del) rs1955358587
NM_000785.4(CYP27B1):c.274G>A (p.Ala92Thr)
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.289_303del (p.Leu97_Glu101del)
NM_000785.4(CYP27B1):c.305G>A (p.Gly102Glu) rs1057520815
NM_000785.4(CYP27B1):c.309C>T (p.Pro103=)
NM_000785.4(CYP27B1):c.310C>T (p.Arg104Trp)
NM_000785.4(CYP27B1):c.311G>A (p.Arg104Gln)
NM_000785.4(CYP27B1):c.315C>T (p.Pro105=)
NM_000785.4(CYP27B1):c.316G>T (p.Glu106Ter)
NM_000785.4(CYP27B1):c.327C>T (p.Ser109=)
NM_000785.4(CYP27B1):c.328T>C (p.Phe110Leu)
NM_000785.4(CYP27B1):c.333G>A (p.Ser111=)
NM_000785.4(CYP27B1):c.33_34del (p.Phe12fs)
NM_000785.4(CYP27B1):c.341C>G (p.Thr114Arg) rs1247839240
NM_000785.4(CYP27B1):c.342G>A (p.Thr114=)
NM_000785.4(CYP27B1):c.346C>G (p.His116Asp)
NM_000785.4(CYP27B1):c.347A>G (p.His116Arg)
NM_000785.4(CYP27B1):c.350G>A (p.Arg117His)
NM_000785.4(CYP27B1):c.351C>G (p.Arg117=)
NM_000785.4(CYP27B1):c.357C>T (p.Cys119=)
NM_000785.4(CYP27B1):c.358C>A (p.Arg120Ser)
NM_000785.4(CYP27B1):c.358C>T (p.Arg120Cys)
NM_000785.4(CYP27B1):c.361C>T (p.Gln121Ter)
NM_000785.4(CYP27B1):c.364C>A (p.Arg122=)
NM_000785.4(CYP27B1):c.36C>T (p.Phe12=)
NM_000785.4(CYP27B1):c.372C>A (p.Cys124Ter)
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+14G>T 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+19dup
NM_000785.4(CYP27B1):c.386+1G>A rs770204470
NM_000785.4(CYP27B1):c.386+20A>G
NM_000785.4(CYP27B1):c.386+6T>C
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.402G>C (p.Trp134Cys) rs1490106961
NM_000785.4(CYP27B1):c.405A>T (p.Gln135His)
NM_000785.4(CYP27B1):c.413G>A (p.Arg138His) rs1452090388
NM_000785.4(CYP27B1):c.422dup (p.Ala142fs)
NM_000785.4(CYP27B1):c.429G>A (p.Pro143=)
NM_000785.4(CYP27B1):c.42C>T (p.Arg14=)
NM_000785.4(CYP27B1):c.43G>A (p.Val15Ile)
NM_000785.4(CYP27B1):c.453C>T (p.Ala151=)
NM_000785.4(CYP27B1):c.463G>A (p.Ala155Thr)
NM_000785.4(CYP27B1):c.465C>T (p.Ala155=)
NM_000785.4(CYP27B1):c.466G>T (p.Gly156Ter)
NM_000785.4(CYP27B1):c.467del (p.Gly156fs)
NM_000785.4(CYP27B1):c.480C>T (p.Asn160=)
NM_000785.4(CYP27B1):c.482T>C (p.Val161Ala)
NM_000785.4(CYP27B1):c.489C>T (p.Cys163=)
NM_000785.4(CYP27B1):c.498G>A (p.Val166=)
NM_000785.4(CYP27B1):c.505del (p.Arg168_Leu169insTer)
NM_000785.4(CYP27B1):c.507G>T (p.Leu169=)
NM_000785.4(CYP27B1):c.516_528dup (p.Thr177fs)
NM_000785.4(CYP27B1):c.51G>A (p.Trp17Ter) rs2140398340
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.568T>C (p.Phe190Leu)
NM_000785.4(CYP27B1):c.57C>G (p.Pro19=)
NM_000785.4(CYP27B1):c.57_69del (p.Glu20fs)
NM_000785.4(CYP27B1):c.580G>A (p.Gly194Arg)
NM_000785.4(CYP27B1):c.584T>A (p.Leu195Gln) rs1955350289
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.590-1G>A
NM_000785.4(CYP27B1):c.590-5A>G
NM_000785.4(CYP27B1):c.590-6G>A
NM_000785.4(CYP27B1):c.590-9_656delinsAGGG rs2140396992
NM_000785.4(CYP27B1):c.600G>A (p.Ala200=)
NM_000785.4(CYP27B1):c.600G>C (p.Ala200=)
NM_000785.4(CYP27B1):c.604C>G (p.Leu202Val)
NM_000785.4(CYP27B1):c.609C>A (p.Leu203=)
NM_000785.4(CYP27B1):c.614C>G (p.Ser205Trp)
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>A (p.Leu210Met)
NM_000785.4(CYP27B1):c.628C>T (p.Leu210=)
NM_000785.4(CYP27B1):c.631del (p.Glu211fs) rs387906258
NM_000785.4(CYP27B1):c.637C>T (p.Gln213Ter)
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.670G>T (p.Ala224Ser)
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.704C>A (p.Thr235Asn)
NM_000785.4(CYP27B1):c.711G>A (p.Ala237=)
NM_000785.4(CYP27B1):c.715C>A (p.Pro239Thr)
NM_000785.4(CYP27B1):c.717C>A (p.Pro239=)
NM_000785.4(CYP27B1):c.72C>G (p.Ser24=)
NM_000785.4(CYP27B1):c.733C>T (p.Leu245Phe)
NM_000785.4(CYP27B1):c.744G>A (p.Gly248=)
NM_000785.4(CYP27B1):c.750G>A (p.Trp250Ter) rs1565811124
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.764G>A (p.Arg255Gln)
NM_000785.4(CYP27B1):c.769dup (p.Trp257fs)
NM_000785.4(CYP27B1):c.779T>G (p.Met260Arg)
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+2T>G
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.791-2A>G
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.812G>T (p.Arg271Leu)
NM_000785.4(CYP27B1):c.817del (p.Ala273fs)
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.850G>A (p.Glu284Lys)
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.939G>C (p.Glu313Asp)
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.963G>T (p.Thr321=)
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.96_97del (p.Ala33fs) rs1955367513
NM_000785.4(CYP27B1):c.96dup (p.Ala33fs) rs1955367536
NM_000785.4(CYP27B1):c.974C>T (p.Thr325Met) rs762118198
NM_000785.4(CYP27B1):c.975G>A (p.Thr325=)
NM_000785.4(CYP27B1):c.981T>C (p.Ser327=) rs1351136873
NM_000785.4(CYP27B1):c.984G>A (p.Trp328Ter)
NM_000785.4(CYP27B1):c.990G>A (p.Leu330=)
NM_000785.4(CYP27B1):c.99A>G (p.Ala33=)

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