ClinVar Miner

List of variants in gene CYP27B1 studied for bone remodeling disease

Included ClinVar conditions (104):
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Gene type:
ClinVar version:
Total variants: 88
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HGVS dbSNP gnomAD frequency
NM_000785.4(CYP27B1):c.942G>A (p.Leu314=) rs8176345 0.02124
NM_000785.4(CYP27B1):c.*415G>A rs8176351 0.01487
NM_000785.4(CYP27B1):c.496G>C (p.Val166Leu) rs8176344 0.00170
NM_000785.4(CYP27B1):c.*77G>A rs8176350 0.00137
NM_000785.4(CYP27B1):c.1452G>A (p.Ala484=) rs8176349 0.00096
NM_000785.4(CYP27B1):c.*143G>A rs569065283 0.00087
NM_000785.4(CYP27B1):c.-22C>G rs146281435 0.00077
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.*635G>A rs533718329 0.00038
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.*446G>A rs763711308 0.00031
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.*345T>C rs141820034 0.00020
NM_000785.4(CYP27B1):c.*426T>C rs751250622 0.00019
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.*329T>C rs895857646 0.00011
NM_000785.4(CYP27B1):c.1286G>A (p.Arg429His) rs568165874 0.00011
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.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.1474C>T (p.Arg492Trp) rs749537609 0.00003
NM_000785.4(CYP27B1):c.164A>T (p.Lys55Met) rs762682469 0.00003
NM_000785.4(CYP27B1):c.*764T>A rs997607806 0.00002
NM_000785.4(CYP27B1):c.*295G>A rs886049724 0.00001
NM_000785.4(CYP27B1):c.*426_*428dup rs886049722 0.00001
NM_000785.4(CYP27B1):c.*472C>A rs886049721 0.00001
NM_000785.4(CYP27B1):c.*76G>A rs147119803 0.00001
NM_000785.4(CYP27B1):c.117C>T (p.Asp39=) rs764141450 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.318G>A (p.Glu106=) rs1300048405 0.00001
NM_000785.4(CYP27B1):c.330C>T (p.Phe110=) rs546648396 0.00001
NM_000785.4(CYP27B1):c.589+1G>A rs761780097 0.00001
NC_000012.12:g.57768302G>T
NM_000785.3(CYP27B1):c.[1319_1325dupCCCACCC];[1358G>A]
NM_000785.4(CYP27B1):c.*215G>C rs557294448
NM_000785.4(CYP27B1):c.*301T>C rs886049723
NM_000785.4(CYP27B1):c.*722C>G rs886049720
NM_000785.4(CYP27B1):c.1004G>C (p.Arg335Pro) rs28934606
NM_000785.4(CYP27B1):c.1027C>T (p.Leu343Phe) rs118204011
NM_000785.4(CYP27B1):c.1144C>T (p.Pro382Ser) rs28934607
NM_000785.4(CYP27B1):c.1160A>C (p.Asn387Thr) rs2140396410
NM_000785.4(CYP27B1):c.1165C>G (p.Arg389Gly) rs118204010
NM_000785.4(CYP27B1):c.1230G>C (p.Leu410=) rs1200364118
NM_000785.4(CYP27B1):c.1232G>A (p.Cys411Tyr) rs2140396224
NM_000785.4(CYP27B1):c.1286G>C (p.Arg429Pro) rs568165874
NM_000785.4(CYP27B1):c.1319_1325dup (p.Phe443fs) rs780950819
NM_000785.4(CYP27B1):c.1349_1376del (p.Phe450fs) rs2140396112
NM_000785.4(CYP27B1):c.1385A>T (p.Glu462Val) rs886049725
NM_000785.4(CYP27B1):c.1388T>C (p.Leu463Pro) rs2140396100
NM_000785.4(CYP27B1):c.171dup (p.Leu58fs) rs763437121
NM_000785.4(CYP27B1):c.201_204delinsCTTCG (p.Gln67fs) rs2140397731
NM_000785.4(CYP27B1):c.221C>T (p.Pro74Leu)
NM_000785.4(CYP27B1):c.252_262del (p.Thr85fs) rs2140397692
NM_000785.4(CYP27B1):c.305G>A (p.Gly102Glu) rs1057520815
NM_000785.4(CYP27B1):c.320G>A (p.Arg107His) rs28934604
NM_000785.4(CYP27B1):c.335C>T (p.Pro112Leu)
NM_000785.4(CYP27B1):c.374G>A (p.Gly125Glu) rs28934605
NM_000785.4(CYP27B1):c.386+14G>A rs373607899
NM_000785.4(CYP27B1):c.386+14G>T rs373607899
NM_000785.4(CYP27B1):c.386+1G>A rs770204470
NM_000785.4(CYP27B1):c.386C>T (p.Ala129Val) rs2140397587
NM_000785.4(CYP27B1):c.403C>T (p.Gln135Ter) rs2140397262
NM_000785.4(CYP27B1):c.437T>A (p.Leu146His) rs886049728
NM_000785.4(CYP27B1):c.454G>A (p.Ala152Thr) rs777612495
NM_000785.4(CYP27B1):c.497_500del (p.Val166fs) rs2140397164
NM_000785.4(CYP27B1):c.566A>G (p.Glu189Gly) rs118204012
NM_000785.4(CYP27B1):c.623G>T (p.Gly208Val) rs2140397019
NM_000785.4(CYP27B1):c.631del (p.Glu211fs) rs387906258
NM_000785.4(CYP27B1):c.693del (p.Thr232fs) rs387906259
NM_000785.4(CYP27B1):c.704C>A (p.Thr235Asn)
NM_000785.4(CYP27B1):c.750G>A (p.Trp250Ter) rs1565811124
NM_000785.4(CYP27B1):c.779T>G (p.Met260Arg)
NM_000785.4(CYP27B1):c.781T>G (p.Phe261Val)
NM_000785.4(CYP27B1):c.788T>G (p.Phe263Cys) rs886049727
NM_000785.4(CYP27B1):c.794A>T (p.Gln265Leu) rs886049726
NM_000785.4(CYP27B1):c.962C>G (p.Thr321Arg) rs118204007
NM_000785.4(CYP27B1):c.974C>T (p.Thr325Met) rs762118198

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