ClinVar Miner

List of variants in gene CYP27A1 reported as likely benign

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Total variants: 154
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HGVS dbSNP
NM_000784.4(CYP27A1):c.*47G>A rs140059093
NM_000784.4(CYP27A1):c.1017G>A (p.Thr339=) rs200553205
NM_000784.4(CYP27A1):c.1029G>A (p.Thr343=) rs771343931
NM_000784.4(CYP27A1):c.102C>T (p.Ala34=) rs773208703
NM_000784.4(CYP27A1):c.1074G>A (p.Gln358=)
NM_000784.4(CYP27A1):c.1086C>T (p.His362=)
NM_000784.4(CYP27A1):c.1089G>A (p.Glu363=)
NM_000784.4(CYP27A1):c.1102G>T (p.Val368Leu) rs145722193
NM_000784.4(CYP27A1):c.1113C>T (p.Ala371=) rs746269951
NM_000784.4(CYP27A1):c.1114G>A (p.Gly372Arg) rs369969903
NM_000784.4(CYP27A1):c.1116G>C (p.Gly372=)
NM_000784.4(CYP27A1):c.1125C>G (p.Pro375=) rs202049251
NM_000784.4(CYP27A1):c.1151C>T (p.Pro384Leu) rs41272687
NM_000784.4(CYP27A1):c.1152G>A (p.Pro384=)
NM_000784.4(CYP27A1):c.1182G>A (p.Leu394=) rs1421364979
NM_000784.4(CYP27A1):c.1184+7C>G rs1575206765
NM_000784.4(CYP27A1):c.1184+9G>T rs200457116
NM_000784.4(CYP27A1):c.1185-4G>A
NM_000784.4(CYP27A1):c.1185-4G>T
NM_000784.4(CYP27A1):c.1188C>T (p.Leu396=)
NM_000784.4(CYP27A1):c.120C>T (p.Ala40=) rs150389057
NM_000784.4(CYP27A1):c.1221A>T (p.Ile407=)
NM_000784.4(CYP27A1):c.123C>T (p.Thr41=)
NM_000784.4(CYP27A1):c.1254C>T (p.Phe418=)
NM_000784.4(CYP27A1):c.1264-6T>C
NM_000784.4(CYP27A1):c.1264-8C>T
NM_000784.4(CYP27A1):c.126A>G (p.Gly42=) rs1238340088
NM_000784.4(CYP27A1):c.1311C>T (p.Ala437=) rs886044581
NM_000784.4(CYP27A1):c.1323T>C (p.Pro441=)
NM_000784.4(CYP27A1):c.132C>T (p.Pro44=) rs933195273
NM_000784.4(CYP27A1):c.1332C>T (p.Phe444=)
NM_000784.4(CYP27A1):c.1348C>T (p.Leu450=)
NM_000784.4(CYP27A1):c.1356C>T (p.Asn452=)
NM_000784.4(CYP27A1):c.1374C>A (p.Pro458=) rs55998945
NM_000784.4(CYP27A1):c.1410C>T (p.Gly470=)
NM_000784.4(CYP27A1):c.1413T>C (p.Tyr471=) rs549032526
NM_000784.4(CYP27A1):c.1419C>T (p.Val473=) rs138596741
NM_000784.4(CYP27A1):c.1425C>A (p.Ala475=)
NM_000784.4(CYP27A1):c.1434C>A (p.Gly478=) rs139279260
NM_000784.4(CYP27A1):c.1434C>T (p.Gly478=) rs139279260
NM_000784.4(CYP27A1):c.1456A>T (p.Met486Leu)
NM_000784.4(CYP27A1):c.1467C>T (p.Leu489=)
NM_000784.4(CYP27A1):c.1470C>T (p.Leu490=)
NM_000784.4(CYP27A1):c.1471G>A (p.Ala491Thr) rs72551323
NM_000784.4(CYP27A1):c.1471G>T (p.Ala491Ser) rs72551323
NM_000784.4(CYP27A1):c.1477-10T>C rs372756101
NM_000784.4(CYP27A1):c.1477-3C>T rs78938783
NM_000784.4(CYP27A1):c.1477-5C>T
NM_000784.4(CYP27A1):c.1477-8C>T
NM_000784.4(CYP27A1):c.1488G>A (p.Lys496=) rs1379650960
NM_000784.4(CYP27A1):c.148G>A (p.Val50Ile) rs149101812
NM_000784.4(CYP27A1):c.1497G>T (p.Val499=)
NM_000784.4(CYP27A1):c.1500C>T (p.Val500=) rs1268917075
NM_000784.4(CYP27A1):c.1505C>A (p.Ala502Asp) rs140842830
NM_000784.4(CYP27A1):c.1509G>A (p.Pro503=) rs577558935
NM_000784.4(CYP27A1):c.150C>T (p.Val50=)
NM_000784.4(CYP27A1):c.1515G>A (p.Thr505=) rs886656814
NM_000784.4(CYP27A1):c.1524G>A (p.Leu508=)
NM_000784.4(CYP27A1):c.1539C>T (p.Arg513=) rs1575207204
NM_000784.4(CYP27A1):c.1557T>C (p.Asn519=)
NM_000784.4(CYP27A1):c.1564G>A (p.Val522Met) rs151117761
NM_000784.4(CYP27A1):c.1569C>T (p.Gly523=) rs748616891
NM_000784.4(CYP27A1):c.1590G>A (p.Gln530=)
NM_000784.4(CYP27A1):c.1593C>T (p.Cys531=)
NM_000784.4(CYP27A1):c.1595G>A (p.Ter532=)
NM_000784.4(CYP27A1):c.159G>A (p.Arg53=) rs750652986
NM_000784.4(CYP27A1):c.214C>T (p.Leu72=)
NM_000784.4(CYP27A1):c.243G>A (p.Leu81=) rs75897848
NM_000784.4(CYP27A1):c.255+9C>T
NM_000784.4(CYP27A1):c.256-8C>A
NM_000784.4(CYP27A1):c.256G>A (p.Val86Met) rs200604732
NM_000784.4(CYP27A1):c.258G>A (p.Val86=)
NM_000784.4(CYP27A1):c.273G>A (p.Lys91=)
NM_000784.4(CYP27A1):c.276C>T (p.Tyr92=) rs141519183
NM_000784.4(CYP27A1):c.303G>T (p.Gly101=)
NM_000784.4(CYP27A1):c.309G>A (p.Gln103=)
NM_000784.4(CYP27A1):c.322C>T (p.Leu108=)
NM_000784.4(CYP27A1):c.327C>G (p.Ala109=)
NM_000784.4(CYP27A1):c.345G>A (p.Glu115=)
NM_000784.4(CYP27A1):c.36G>T (p.Ala12=)
NM_000784.4(CYP27A1):c.384C>T (p.Asn128=) rs765555645
NM_000784.4(CYP27A1):c.393G>A (p.Glu131=)
NM_000784.4(CYP27A1):c.394C>T (p.Leu132=)
NM_000784.4(CYP27A1):c.420C>T (p.His140=) rs139415581
NM_000784.4(CYP27A1):c.432T>C (p.Tyr144=) rs1553616026
NM_000784.4(CYP27A1):c.446+10G>A
NM_000784.4(CYP27A1):c.446+15G>A
NM_000784.4(CYP27A1):c.446+8G>A
NM_000784.4(CYP27A1):c.447-4G>T
NM_000784.4(CYP27A1):c.447-7C>T
NM_000784.4(CYP27A1):c.450A>G (p.Glu150=)
NM_000784.4(CYP27A1):c.453A>G (p.Gly151=)
NM_000784.4(CYP27A1):c.456C>T (p.His152=)
NM_000784.4(CYP27A1):c.48C>G (p.Ala16=)
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.501G>A (p.Lys167=)
NM_000784.4(CYP27A1):c.506C>A (p.Ala169Glu)
NM_000784.4(CYP27A1):c.506C>T (p.Ala169Val) rs59443548
NM_000784.4(CYP27A1):c.507G>A (p.Ala169=)
NM_000784.4(CYP27A1):c.515C>T (p.Ala172Val) rs200753815
NM_000784.4(CYP27A1):c.524C>T (p.Thr175Met) rs2229381
NM_000784.4(CYP27A1):c.525G>A (p.Thr175=)
NM_000784.4(CYP27A1):c.525G>T (p.Thr175=)
NM_000784.4(CYP27A1):c.536A>G (p.Asn179Ser) rs145080072
NM_000784.4(CYP27A1):c.540G>A (p.Glu180=)
NM_000784.4(CYP27A1):c.564A>T (p.Arg188=)
NM_000784.4(CYP27A1):c.578G>A (p.Arg193Gln) rs181649030
NM_000784.4(CYP27A1):c.593C>T (p.Ser198Leu)
NM_000784.4(CYP27A1):c.594G>A (p.Ser198=) rs1487944910
NM_000784.4(CYP27A1):c.606G>A (p.Val202=)
NM_000784.4(CYP27A1):c.606G>T (p.Val202=)
NM_000784.4(CYP27A1):c.608C>T (p.Ser203Leu)
NM_000784.4(CYP27A1):c.609G>A (p.Ser203=) rs148132118
NM_000784.4(CYP27A1):c.624C>T (p.Leu208=) rs200060245
NM_000784.4(CYP27A1):c.630C>T (p.Tyr210=)
NM_000784.4(CYP27A1):c.63C>T (p.Cys21=)
NM_000784.4(CYP27A1):c.646+4C>T rs191313794
NM_000784.4(CYP27A1):c.646+9G>C
NM_000784.4(CYP27A1):c.654C>T (p.Cys218=)
NM_000784.4(CYP27A1):c.657C>T (p.Tyr219=)
NM_000784.4(CYP27A1):c.660C>T (p.Ile220=)
NM_000784.4(CYP27A1):c.666C>T (p.Phe222=) rs751692931
NM_000784.4(CYP27A1):c.66C>G (p.Pro22=)
NM_000784.4(CYP27A1):c.66C>T (p.Pro22=)
NM_000784.4(CYP27A1):c.673C>T (p.Arg225Cys) rs114768494
NM_000784.4(CYP27A1):c.681C>T (p.Gly227=)
NM_000784.4(CYP27A1):c.684C>T (p.Cys228=)
NM_000784.4(CYP27A1):c.699C>A (p.Ile233=) rs1178297854
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.711C>T (p.Thr237=) rs375163463
NM_000784.4(CYP27A1):c.712G>A (p.Val238Met) rs199691576
NM_000784.4(CYP27A1):c.720C>T (p.Phe240=) rs748075933
NM_000784.4(CYP27A1):c.732C>T (p.Ile244=)
NM_000784.4(CYP27A1):c.735G>A (p.Gly245=)
NM_000784.4(CYP27A1):c.735G>T (p.Gly245=) rs770631614
NM_000784.4(CYP27A1):c.747G>A (p.Gln249=) rs764766872
NM_000784.4(CYP27A1):c.756C>A (p.Leu252=) rs1559392636
NM_000784.4(CYP27A1):c.765C>G (p.Thr255=)
NM_000784.4(CYP27A1):c.789C>T (p.Pro263=) rs143600636
NM_000784.4(CYP27A1):c.790G>A (p.Val264Met) rs201500822
NM_000784.4(CYP27A1):c.792G>A (p.Val264=) rs144018609
NM_000784.4(CYP27A1):c.83A>C (p.Lys28Thr) rs371449777
NM_000784.4(CYP27A1):c.845-6T>C
NM_000784.4(CYP27A1):c.861T>C (p.Asp287=)
NM_000784.4(CYP27A1):c.870C>G (p.Leu290=)
NM_000784.4(CYP27A1):c.870C>T (p.Leu290=)
NM_000784.4(CYP27A1):c.882G>A (p.Glu294=) rs59428328
NM_000784.4(CYP27A1):c.891G>T (p.Leu297=) rs144455258
NM_000784.4(CYP27A1):c.903G>C (p.Gly301=)
NM_000784.4(CYP27A1):c.921G>A (p.Val307=) rs147975335
NM_000784.4(CYP27A1):c.93C>T (p.Ile31=)
NM_000784.4(CYP27A1):c.972G>A (p.Glu324=) rs1341913523

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