ClinVar Miner

List of variants studied for Deficiency of steroid 17-alpha-monooxygenase by Baylor Genetics

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Total variants: 78
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HGVS dbSNP gnomAD frequency
NM_000102.4(CYP17A1):c.286C>T (p.Arg96Trp) rs104894138 0.00006
NM_000102.4(CYP17A1):c.716G>A (p.Arg239Gln) rs773278607 0.00005
NM_000102.4(CYP17A1):c.1019G>A (p.Arg340His) rs765987481 0.00003
NM_000102.4(CYP17A1):c.374G>A (p.Arg125Gln) rs104894154 0.00003
NM_000102.4(CYP17A1):c.580G>T (p.Glu194Ter) rs1173000590 0.00003
NM_000102.4(CYP17A1):c.660G>A (p.Trp220Ter) rs879802265 0.00003
NM_000102.4(CYP17A1):c.1226C>G (p.Pro409Arg) rs367833709 0.00002
NM_000102.4(CYP17A1):c.1247G>A (p.Arg416His) rs104894155 0.00002
NM_000102.4(CYP17A1):c.297+2T>C rs764723654 0.00002
NM_000102.4(CYP17A1):c.1039C>T (p.Arg347Cys) rs104894149 0.00001
NM_000102.4(CYP17A1):c.1040G>A (p.Arg347His) rs61754278 0.00001
NM_000102.4(CYP17A1):c.1073G>A (p.Arg358Gln) rs104894139 0.00001
NM_000102.4(CYP17A1):c.1084C>T (p.Arg362Cys) rs104894142 0.00001
NM_000102.4(CYP17A1):c.1085G>A (p.Arg362His) rs752811843 0.00001
NM_000102.4(CYP17A1):c.1118A>T (p.His373Leu) rs760695410 0.00001
NM_000102.4(CYP17A1):c.1193C>T (p.Ala398Val) rs1315561755 0.00001
NM_000102.4(CYP17A1):c.1216T>C (p.Trp406Arg) rs104894143 0.00001
NM_000102.4(CYP17A1):c.1263G>A (p.Ala421=) rs769188557 0.00001
NM_000102.4(CYP17A1):c.1306G>A (p.Gly436Arg) rs757083287 0.00001
NM_000102.4(CYP17A1):c.1319G>A (p.Arg440His) rs777638364 0.00001
NM_000102.4(CYP17A1):c.1346G>A (p.Arg449His) rs752164207 0.00001
NM_000102.4(CYP17A1):c.1487G>A (p.Arg496His) rs763398879 0.00001
NM_000102.4(CYP17A1):c.287G>A (p.Arg96Gln) rs104894153 0.00001
NM_000102.4(CYP17A1):c.316T>C (p.Ser106Pro) rs104894135 0.00001
NM_000102.4(CYP17A1):c.321del (p.Asn107fs) rs1844148492 0.00001
NM_000102.4(CYP17A1):c.887T>C (p.Ile296Thr) rs531000872 0.00001
NM_000102.4(CYP17A1):c.995T>C (p.Ile332Thr) rs772804570 0.00001
NM_000102.4(CYP17A1):c.1072C>T (p.Arg358Ter) rs2134082367
NM_000102.4(CYP17A1):c.1117C>A (p.His373Asn) rs1423560123
NM_000102.4(CYP17A1):c.1117C>G (p.His373Asp) rs1423560123
NM_000102.4(CYP17A1):c.1157_1161del (p.Val386fs) rs2493235632
NM_000102.4(CYP17A1):c.1162A>T (p.Lys388Ter) rs1060499582
NM_000102.4(CYP17A1):c.1226C>T (p.Pro409Leu) rs367833709
NM_000102.4(CYP17A1):c.1243+5G>A rs1564777724
NM_000102.4(CYP17A1):c.1244-1G>C rs908660542
NM_000102.4(CYP17A1):c.1246C>T (p.Arg416Cys) rs1178684770
NM_000102.4(CYP17A1):c.1283C>T (p.Pro428Leu) rs104894145
NM_000102.4(CYP17A1):c.1301C>T (p.Pro434Leu) rs2493234394
NM_000102.4(CYP17A1):c.1318C>T (p.Arg440Cys) rs868228603
NM_000102.4(CYP17A1):c.133_138delinsT (p.Arg45fs) rs2493245827
NM_000102.4(CYP17A1):c.1345C>T (p.Arg449Cys) rs371825363
NM_000102.4(CYP17A1):c.1346del (p.Arg449fs) rs2480384074
NM_000102.4(CYP17A1):c.1371del (p.Trp458fs) rs749406474
NM_000102.4(CYP17A1):c.1381C>T (p.Gln461Ter) rs2493234210
NM_000102.4(CYP17A1):c.1414C>T (p.Gln472Ter) rs746813353
NM_000102.4(CYP17A1):c.1435_1438dup (p.Pro480fs) rs556794126
NM_000102.4(CYP17A1):c.1459_1467del (p.Asp487_Phe489del) rs756135168
NM_000102.4(CYP17A1):c.1486C>T (p.Arg496Cys) rs1250463562
NM_000102.4(CYP17A1):c.157TTC[1] (p.Phe54del) rs121434319
NM_000102.4(CYP17A1):c.177del (p.Lys59fs) rs1402132413
NM_000102.4(CYP17A1):c.177dup (p.Tyr60fs) rs1402132413
NM_000102.4(CYP17A1):c.245C>A (p.Ala82Asp) rs2493245623
NM_000102.4(CYP17A1):c.298-2A>G rs1366534270
NM_000102.4(CYP17A1):c.327dup (p.Lys110Ter) rs2493243250
NM_000102.4(CYP17A1):c.334_336dup (p.Ile112dup) rs1844148108
NM_000102.4(CYP17A1):c.336dup (p.Ala113fs) rs2493243222
NM_000102.4(CYP17A1):c.350_351del (p.Ser117fs) rs1360362529
NM_000102.4(CYP17A1):c.362G>A (p.Trp121Ter) rs942376359
NM_000102.4(CYP17A1):c.418C>T (p.Gln140Ter) rs2493243005
NM_000102.4(CYP17A1):c.437-1G>A rs2493242260
NM_000102.4(CYP17A1):c.574dup (p.Asp192fs) rs2493241953
NM_000102.4(CYP17A1):c.601T>A (p.Tyr201Asn) rs104894150
NM_000102.4(CYP17A1):c.632_633del (p.Lys211fs) rs2493241834
NM_000102.4(CYP17A1):c.666+2T>C rs760032797
NM_000102.4(CYP17A1):c.667-13_667-10del rs1844127277
NM_000102.4(CYP17A1):c.667-16_680del rs2493240521
NM_000102.4(CYP17A1):c.671del (p.Phe224fs) rs2493240549
NM_000102.4(CYP17A1):c.675dup (p.Asn226fs) rs1458440922
NM_000102.4(CYP17A1):c.715C>T (p.Arg239Ter) rs104894136
NM_000102.4(CYP17A1):c.753+1G>A rs1844126291
NM_000102.4(CYP17A1):c.806_810del (p.Ala269fs) rs2493239019
NM_000102.4(CYP17A1):c.869del (p.Asn290fs) rs766331452
NM_000102.4(CYP17A1):c.938G>A (p.Trp313Ter) rs2493238663
NM_000102.4(CYP17A1):c.946dup (p.Ala316fs) rs2493238640
NM_000102.4(CYP17A1):c.973AAG[2] (p.Lys327del) rs774737304
NM_000102.4(CYP17A1):c.985_987delinsAA (p.Tyr329fs) rs1844105842
NM_000102.4(CYP17A1):c.987C>G (p.Tyr329Ter) rs374769118
NM_000102.4(CYP17A1):c.988GAG[1] (p.Glu331del) rs759060233

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