ClinVar Miner

List of variants in gene CYP17A1 studied for Deficiency of steroid 17-alpha-monooxygenase

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Total variants: 125
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HGVS dbSNP gnomAD frequency
NM_000102.4(CYP17A1):c.195G>T (p.Ser65=) rs6163 0.40112
NM_000102.4(CYP17A1):c.138C>T (p.His46=) rs6162 0.40089
NM_000102.4(CYP17A1):c.436+105A>C rs743575 0.24877
NM_000102.4(CYP17A1):c.1243+113A>T rs10883783 0.24865
NM_000102.4(CYP17A1):c.1139+19T>G rs4919686 0.21485
NM_000102.4(CYP17A1):c.1243+83C>A rs284849 0.15759
NM_000102.4(CYP17A1):c.666+35T>C rs1004467 0.13602
NM_000102.4(CYP17A1):c.62G>A (p.Arg21Lys) rs61754263 0.00116
NM_000102.4(CYP17A1):c.*65C>A rs537220295 0.00051
NM_000102.4(CYP17A1):c.753+13G>A rs201956379 0.00036
NM_000102.4(CYP17A1):c.298-11G>C rs188885755 0.00031
NM_000102.4(CYP17A1):c.1458C>T (p.Ile486=) rs147557447 0.00023
NM_000102.4(CYP17A1):c.988G>A (p.Glu330Lys) rs142037395 0.00018
NM_000102.4(CYP17A1):c.100C>T (p.Leu34=) rs145117545 0.00009
NM_000102.4(CYP17A1):c.108G>A (p.Leu36=) rs112892739 0.00009
NM_000102.4(CYP17A1):c.32C>T (p.Thr11Ile) rs72559703 0.00009
NM_000102.4(CYP17A1):c.1194G>A (p.Ala398=) rs201222065 0.00008
NM_000102.4(CYP17A1):c.987C>T (p.Tyr329=) rs374769118 0.00008
NM_000102.4(CYP17A1):c.1269C>G (p.Thr423=) rs554217514 0.00006
NM_000102.4(CYP17A1):c.286C>T (p.Arg96Trp) rs104894138 0.00006
NM_000102.4(CYP17A1):c.200G>A (p.Arg67His) rs376074317 0.00005
NM_000102.4(CYP17A1):c.628A>G (p.Ser210Gly) rs142435666 0.00005
NM_000102.4(CYP17A1):c.1227G>A (p.Pro409=) rs779167465 0.00004
NM_000102.4(CYP17A1):c.522G>A (p.Ala174=) rs369081864 0.00004
NM_000102.4(CYP17A1):c.764G>A (p.Arg255Gln) rs567775035 0.00004
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.660G>A (p.Trp220Ter) rs879802265 0.00003
NM_000102.4(CYP17A1):c.702C>T (p.Ser234=) rs146311005 0.00003
NM_000102.4(CYP17A1):c.831T>C (p.Asn277=) rs1043151688 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.483C>T (p.Asn161=) rs767962487 0.00002
NM_000102.4(CYP17A1):c.654C>T (p.Val218=) rs375350911 0.00002
NM_000102.4(CYP17A1):c.847G>C (p.Asp283His) rs746480412 0.00002
NM_000102.4(CYP17A1):c.*130C>T rs886046665 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.1216T>C (p.Trp406Arg) rs104894143 0.00001
NM_000102.4(CYP17A1):c.1233G>A (p.Gln411=) rs755050448 0.00001
NM_000102.4(CYP17A1):c.1319G>A (p.Arg440His) rs777638364 0.00001
NM_000102.4(CYP17A1):c.235C>G (p.His79Asp) rs370973897 0.00001
NM_000102.4(CYP17A1):c.276C>T (p.Asp92=) rs535575638 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.318C>T (p.Ser106=) rs766679884 0.00001
NM_000102.4(CYP17A1):c.3G>A (p.Met1Ile) rs61754262 0.00001
NM_000102.4(CYP17A1):c.741T>C (p.Leu247=) rs778591928 0.00001
NM_000102.4(CYP17A1):c.*67C>A rs886046666
NM_000102.4(CYP17A1):c.102G>T (p.Leu34=) rs752346898
NM_000102.4(CYP17A1):c.1039C>T (p.Arg347Cys) rs104894149
NM_000102.4(CYP17A1):c.1050CCT[1] (p.Leu353del) rs1590203064
NM_000102.4(CYP17A1):c.1072C>T (p.Arg358Ter) rs2134082367
NM_000102.4(CYP17A1):c.1112T>C (p.Ile371Thr)
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.1134C>T (p.Asp378=) rs772903405
NM_000102.4(CYP17A1):c.1157_1161del (p.Val386fs)
NM_000102.4(CYP17A1):c.1162A>T (p.Lys388Ter) rs1060499582
NM_000102.4(CYP17A1):c.1193C>T (p.Ala398Val)
NM_000102.4(CYP17A1):c.1216T>G (p.Trp406Gly)
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.1283C>T (p.Pro428Leu) rs104894145
NM_000102.4(CYP17A1):c.1301C>T (p.Pro434Leu)
NM_000102.4(CYP17A1):c.1318C>T (p.Arg440Cys)
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.1363A>G (p.Ile455Val) rs138630127
NM_000102.4(CYP17A1):c.1371del (p.Trp458fs)
NM_000102.4(CYP17A1):c.1381C>T (p.Gln461Ter)
NM_000102.4(CYP17A1):c.1414C>A (p.Gln472Lys) rs746813353
NM_000102.4(CYP17A1):c.1414C>T (p.Gln472Ter)
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.1487G>A (p.Arg496His)
NM_000102.4(CYP17A1):c.1488C>T (p.Arg496=) rs539435111
NM_000102.4(CYP17A1):c.157TTC[1] (p.Phe54del) rs121434319
NM_000102.4(CYP17A1):c.177del (p.Lys59fs)
NM_000102.4(CYP17A1):c.180T>C (p.Tyr60=) rs61754264
NM_000102.4(CYP17A1):c.186C>T (p.Pro62=) rs1844174531
NM_000102.4(CYP17A1):c.1A>G (p.Met1Val) rs1590204913
NM_000102.4(CYP17A1):c.225T>G (p.Ile75Met) rs931528592
NM_000102.4(CYP17A1):c.235C>A (p.His79Asn) rs370973897
NM_000102.4(CYP17A1):c.245C>A (p.Ala82Asp)
NM_000102.4(CYP17A1):c.315G>A (p.Ala105=) rs150698224
NM_000102.4(CYP17A1):c.334_336dup (p.Ile112dup) rs1844148108
NM_000102.4(CYP17A1):c.350C>G (p.Ser117Cys)
NM_000102.4(CYP17A1):c.350_351del (p.Ser117fs)
NM_000102.4(CYP17A1):c.362G>A (p.Trp121Ter) rs942376359
NM_000102.4(CYP17A1):c.384G>A (p.Ala128=) rs1844146929
NM_000102.4(CYP17A1):c.412G>A (p.Gly138Ser) rs1485258085
NM_000102.4(CYP17A1):c.437-1G>A
NM_000102.4(CYP17A1):c.438_439del (p.Ile146fs)
NM_000102.4(CYP17A1):c.521C>A (p.Ala174Glu) rs752540777
NM_000102.4(CYP17A1):c.574dup (p.Asp192fs)
NM_000102.4(CYP17A1):c.580G>T (p.Glu194Ter) rs1173000590
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.667-16_680del
NM_000102.4(CYP17A1):c.671T>C (p.Phe224Ser) rs202092158
NM_000102.4(CYP17A1):c.671del (p.Phe224fs)
NM_000102.4(CYP17A1):c.675dup (p.Asn226fs) rs1458440922
NM_000102.4(CYP17A1):c.715C>T (p.Arg239Ter) rs104894136
NM_000102.4(CYP17A1):c.716G>A (p.Arg239Gln)
NM_000102.4(CYP17A1):c.753+1G>A rs1844126291
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.973AAG[2] (p.Lys327del)
NM_000102.4(CYP17A1):c.985_987delinsAA (p.Tyr329fs) rs1844105842
NM_000102.4(CYP17A1):c.987C>G (p.Tyr329Ter)
NM_000102.4(CYP17A1):c.988GAG[1] (p.Glu331del)
NM_000102.4(CYP17A1):c.995T>C (p.Ile332Thr)

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