ClinVar Miner

List of variants in gene CYP27A1 reported as uncertain significance by EGL Genetic Diagnostics, Eurofins Clinical Diagnostics

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Total variants: 85
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HGVS dbSNP
NM_000784.4(CYP27A1):c.1017+5G>A rs370304209
NM_000784.4(CYP27A1):c.1017G>A (p.Thr339=) rs200553205
NM_000784.4(CYP27A1):c.1019C>T (p.Thr340Ile) rs143377523
NM_000784.4(CYP27A1):c.1028C>T (p.Thr343Met) rs372194079
NM_000784.4(CYP27A1):c.1029G>T (p.Thr343=) rs771343931
NM_000784.4(CYP27A1):c.1055C>T (p.Ser352Leu) rs780927834
NM_000784.4(CYP27A1):c.1083G>T (p.Leu361Phe) rs1215745374
NM_000784.4(CYP27A1):c.1085A>G (p.His362Arg) rs886043798
NM_000784.4(CYP27A1):c.1101T>G (p.Gly367=) rs752360378
NM_000784.4(CYP27A1):c.1102_1104delinsTTA (p.Val368Leu) rs886043512
NM_000784.4(CYP27A1):c.110C>T (p.Ser37Leu) rs1559384559
NM_000784.4(CYP27A1):c.1114G>A (p.Gly372Arg) rs369969903
NM_000784.4(CYP27A1):c.1148T>A (p.Met383Lys) rs539356203
NM_000784.4(CYP27A1):c.1161A>C (p.Lys387Asn) rs1559393286
NM_000784.4(CYP27A1):c.1175A>C (p.Glu392Ala) rs1245201394
NM_000784.4(CYP27A1):c.1192C>A (p.Pro398Thr) rs1559393373
NM_000784.4(CYP27A1):c.1207A>G (p.Asn403Asp) rs1000788840
NM_000784.4(CYP27A1):c.120C>T (p.Ala40=) rs150389057
NM_000784.4(CYP27A1):c.1263+10del rs765426068
NM_000784.4(CYP27A1):c.126A>G (p.Gly42=) rs1238340088
NM_000784.4(CYP27A1):c.1286A>G (p.Tyr429Cys) rs774127681
NM_000784.4(CYP27A1):c.1297C>T (p.Arg433Trp) rs143002163
NM_000784.4(CYP27A1):c.1298G>A (p.Arg433Gln) rs201107032
NM_000784.4(CYP27A1):c.1311C>T (p.Ala437=) rs886044581
NM_000784.4(CYP27A1):c.132C>T (p.Pro44=) rs933195273
NM_000784.4(CYP27A1):c.1342C>A (p.Arg448Ser) rs730882199
NM_000784.4(CYP27A1):c.1343G>A (p.Arg448His) rs370868184
NM_000784.4(CYP27A1):c.1371C>T (p.Thr457=) rs1177463640
NM_000784.4(CYP27A1):c.1419C>T (p.Val473=) rs138596741
NM_000784.4(CYP27A1):c.1434C>T (p.Gly478=) rs139279260
NM_000784.4(CYP27A1):c.1435C>G (p.Arg479Gly) rs72551322
NM_000784.4(CYP27A1):c.1436G>A (p.Arg479His) rs199638075
NM_000784.4(CYP27A1):c.1437C>T (p.Arg479=) rs1559393601
NM_000784.4(CYP27A1):c.1471G>A (p.Ala491Thr) rs72551323
NM_000784.4(CYP27A1):c.148G>A (p.Val50Ile) rs149101812
NM_000784.4(CYP27A1):c.1494G>C (p.Lys498Asn) rs377290147
NM_000784.4(CYP27A1):c.1503G>A (p.Leu501=) rs1336081746
NM_000784.4(CYP27A1):c.1508C>T (p.Pro503Leu) rs776752717
NM_000784.4(CYP27A1):c.1512G>A (p.Glu504=) rs1177079490
NM_000784.4(CYP27A1):c.1538G>A (p.Arg513His) rs144701596
NM_000784.4(CYP27A1):c.1553C>G (p.Pro518Arg) rs143844199
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.1589A>T (p.Gln530Leu) rs911127639
NM_000784.4(CYP27A1):c.158G>T (p.Arg53Leu) rs376993392
NM_000784.4(CYP27A1):c.241C>A (p.Leu81Met) rs370498798
NM_000784.4(CYP27A1):c.248A>C (p.Gln83Pro) rs185591162
NM_000784.4(CYP27A1):c.256-3C>T rs1559391389
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.315C>T (p.His105=) rs753981913
NM_000784.4(CYP27A1):c.420C>T (p.His140=) rs139415581
NM_000784.4(CYP27A1):c.443C>G (p.Thr148Ser) rs1404621754
NM_000784.4(CYP27A1):c.472C>T (p.Arg158Cys) rs774541162
NM_000784.4(CYP27A1):c.490C>T (p.Arg164Trp) rs61733615
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.515C>T (p.Ala172Val) rs200753815
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.546T>G (p.Ile182Met) rs149366157
NM_000784.4(CYP27A1):c.609G>A (p.Ser203=) rs148132118
NM_000784.4(CYP27A1):c.613A>G (p.Met205Val) rs147321244
NM_000784.4(CYP27A1):c.624C>T (p.Leu208=) rs200060245
NM_000784.4(CYP27A1):c.63C>G (p.Cys21Trp) rs781222632
NM_000784.4(CYP27A1):c.646+4C>T rs191313794
NM_000784.4(CYP27A1):c.649A>C (p.Ile217Leu) rs886042256
NM_000784.4(CYP27A1):c.682T>C (p.Cys228Arg) rs1553616268
NM_000784.4(CYP27A1):c.693A>T (p.Arg231=) rs1187804477
NM_000784.4(CYP27A1):c.699C>A (p.Ile233=) rs1178297854
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.721G>A (p.Val241Ile) rs369660141
NM_000784.4(CYP27A1):c.788C>G (p.Pro263Arg) rs1274003022
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.802T>C (p.Trp268Arg) rs535323883
NM_000784.4(CYP27A1):c.808C>G (p.Arg270Gly) rs72551318
NM_000784.4(CYP27A1):c.809G>A (p.Arg270Gln) rs556715266
NM_000784.4(CYP27A1):c.83A>C (p.Lys28Thr) rs371449777
NM_000784.4(CYP27A1):c.891G>T (p.Leu297=) rs144455258
NM_000784.4(CYP27A1):c.919G>T (p.Val307Leu) rs779794737
NM_000784.4(CYP27A1):c.958C>T (p.Leu320Phe) rs367855115
NM_000784.4(CYP27A1):c.967C>T (p.Arg323Trp) rs371603253
NM_000784.4(CYP27A1):c.974C>T (p.Ala325Val) rs1559392874

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