ClinVar Miner

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

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Total variants: 43
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HGVS dbSNP gnomAD frequency
NM_000102.4(CYP17A1):c.374G>A (p.Arg125Gln) rs104894154 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.3G>A (p.Met1Ile) rs61754262 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.1117C>T (p.His373Tyr) rs1423560123
NM_000102.4(CYP17A1):c.1157_1161del (p.Val386fs)
NM_000102.4(CYP17A1):c.1193C>T (p.Ala398Val)
NM_000102.4(CYP17A1):c.1226C>T (p.Pro409Leu) rs367833709
NM_000102.4(CYP17A1):c.1241C>T (p.Pro414Leu) rs1554879846
NM_000102.4(CYP17A1):c.1244-1G>C
NM_000102.4(CYP17A1):c.1263G>A (p.Ala421=)
NM_000102.4(CYP17A1):c.1301C>T (p.Pro434Leu)
NM_000102.4(CYP17A1):c.133_138delinsT (p.Arg45fs)
NM_000102.4(CYP17A1):c.1345C>T (p.Arg449Cys) rs371825363
NM_000102.4(CYP17A1):c.1346del (p.Arg449fs)
NM_000102.4(CYP17A1):c.1371del (p.Trp458fs)
NM_000102.4(CYP17A1):c.1414C>T (p.Gln472Ter)
NM_000102.4(CYP17A1):c.1435_1438dup (p.Pro480fs) rs556794126
NM_000102.4(CYP17A1):c.1486C>T (p.Arg496Cys) rs1250463562
NM_000102.4(CYP17A1):c.1487G>A (p.Arg496His)
NM_000102.4(CYP17A1):c.157TTC[1] (p.Phe54del) rs121434319
NM_000102.4(CYP17A1):c.177del (p.Lys59fs)
NM_000102.4(CYP17A1):c.1A>G (p.Met1Val) rs1590204913
NM_000102.4(CYP17A1):c.245C>A (p.Ala82Asp)
NM_000102.4(CYP17A1):c.334_336dup (p.Ile112dup) rs1844148108
NM_000102.4(CYP17A1):c.437-1G>A
NM_000102.4(CYP17A1):c.521C>A (p.Ala174Glu) rs752540777
NM_000102.4(CYP17A1):c.574dup (p.Asp192fs)
NM_000102.4(CYP17A1):c.632_633del (p.Lys211fs)
NM_000102.4(CYP17A1):c.666+2T>C
NM_000102.4(CYP17A1):c.667-13_667-10del rs1844127277
NM_000102.4(CYP17A1):c.671del (p.Phe224fs)
NM_000102.4(CYP17A1):c.675dup (p.Asn226fs) rs1458440922
NM_000102.4(CYP17A1):c.716G>A (p.Arg239Gln)
NM_000102.4(CYP17A1):c.806_810del (p.Ala269fs)
NM_000102.4(CYP17A1):c.869del (p.Asn290fs) rs766331452
NM_000102.4(CYP17A1):c.887T>C (p.Ile296Thr)
NM_000102.4(CYP17A1):c.946dup (p.Ala316fs)
NM_000102.4(CYP17A1):c.988GAG[1] (p.Glu331del)
NM_000102.4(CYP17A1):c.995T>C (p.Ile332Thr)

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