ClinVar Miner

List of variants reported as likely pathogenic for Deficiency of steroid 17-alpha-monooxygenase by Baylor Genetics

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Total variants: 42
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HGVS dbSNP gnomAD frequency
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.660G>A (p.Trp220Ter) rs879802265 0.00003
NM_000102.4(CYP17A1):c.1247G>A (p.Arg416His) rs104894155 0.00002
NM_000102.4(CYP17A1):c.1085G>A (p.Arg362His) rs752811843 0.00001
NM_000102.4(CYP17A1):c.1193C>T (p.Ala398Val) rs1315561755 0.00001
NM_000102.4(CYP17A1):c.1263G>A (p.Ala421=) rs769188557 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.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.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.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.1301C>T (p.Pro434Leu) rs2493234394
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.1414C>T (p.Gln472Ter) rs746813353
NM_000102.4(CYP17A1):c.1486C>T (p.Arg496Cys) rs1250463562
NM_000102.4(CYP17A1):c.177del (p.Lys59fs) 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.334_336dup (p.Ile112dup) rs1844148108
NM_000102.4(CYP17A1):c.336dup (p.Ala113fs) rs2493243222
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.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.671del (p.Phe224fs) rs2493240549
NM_000102.4(CYP17A1):c.675dup (p.Asn226fs) rs1458440922
NM_000102.4(CYP17A1):c.806_810del (p.Ala269fs) rs2493239019
NM_000102.4(CYP17A1):c.869del (p.Asn290fs) rs766331452
NM_000102.4(CYP17A1):c.946dup (p.Ala316fs) rs2493238640
NM_000102.4(CYP17A1):c.988GAG[1] (p.Glu331del) rs759060233

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