ClinVar Miner

List of variants in gene CYP2U1 studied for Spastic paraplegia

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Total variants: 202
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HGVS dbSNP gnomAD frequency
NM_183075.3(CYP2U1):c.1127-17T>C rs6856745 0.63755
NM_183075.3(CYP2U1):c.10C>T (p.Pro4Ser) rs371029660 0.00352
NM_183075.3(CYP2U1):c.1151G>T (p.Arg384Ile) rs142676629 0.00214
NM_183075.3(CYP2U1):c.60C>T (p.Leu20=) rs535692203 0.00168
NM_183075.3(CYP2U1):c.850T>C (p.Phe284Leu) rs148477072 0.00141
NM_183075.3(CYP2U1):c.1132G>A (p.Val378Ile) rs61740284 0.00140
NM_183075.3(CYP2U1):c.308C>T (p.Pro103Leu) rs147506864 0.00122
NM_183075.3(CYP2U1):c.992A>G (p.Asn331Ser) rs148983337 0.00086
NM_183075.3(CYP2U1):c.1397G>A (p.Arg466Gln) rs143952943 0.00054
NM_183075.3(CYP2U1):c.396C>T (p.Asp132=) rs368014569 0.00033
NM_183075.3(CYP2U1):c.372C>T (p.His124=) rs375489915 0.00031
NM_183075.3(CYP2U1):c.1126+11G>C rs370834419 0.00022
NM_183075.3(CYP2U1):c.639C>T (p.His213=) rs147256952 0.00021
NM_183075.3(CYP2U1):c.1162G>A (p.Ala388Thr) rs138968113 0.00020
NM_183075.3(CYP2U1):c.1377G>A (p.Pro459=) rs138472735 0.00014
NM_183075.3(CYP2U1):c.515C>T (p.Pro172Leu) rs751459304 0.00014
NM_183075.3(CYP2U1):c.517G>A (p.Val173Ile) rs374109524 0.00013
NM_183075.3(CYP2U1):c.1004G>C (p.Ser335Thr) rs142944337 0.00012
NM_183075.3(CYP2U1):c.1161C>T (p.Gly387=) rs150288490 0.00011
NM_183075.3(CYP2U1):c.235C>G (p.Pro79Ala) rs768868832 0.00011
NM_183075.3(CYP2U1):c.358T>C (p.Phe120Leu) rs763896315 0.00011
NM_183075.3(CYP2U1):c.425A>T (p.Gln142Leu) rs140010604 0.00011
NM_183075.3(CYP2U1):c.1044T>C (p.Asp348=) rs374633238 0.00009
NM_183075.3(CYP2U1):c.629T>C (p.Met210Thr) rs143913941 0.00009
NM_183075.3(CYP2U1):c.1414G>A (p.Gly472Arg) rs147277678 0.00008
NM_183075.3(CYP2U1):c.1116C>T (p.Pro372=) rs373823906 0.00007
NM_183075.3(CYP2U1):c.671T>C (p.Ile224Thr) rs139692261 0.00007
NM_183075.3(CYP2U1):c.1456+8A>G rs377737033 0.00006
NM_183075.3(CYP2U1):c.979G>C (p.Glu327Gln) rs767970725 0.00006
NM_183075.3(CYP2U1):c.1376C>T (p.Pro459Leu) rs747965749 0.00005
NM_183075.3(CYP2U1):c.1572G>A (p.Leu524=) rs373549777 0.00005
NM_183075.3(CYP2U1):c.1630A>T (p.Arg544Ter) rs772136947 0.00005
NM_183075.3(CYP2U1):c.1170A>G (p.Arg390=) rs369480165 0.00004
NM_183075.3(CYP2U1):c.124C>T (p.Leu42Phe) rs901277054 0.00004
NM_183075.3(CYP2U1):c.164G>A (p.Arg55Gln) rs745929667 0.00004
NM_183075.3(CYP2U1):c.322G>A (p.Ala108Thr) rs770267485 0.00004
NM_183075.3(CYP2U1):c.696T>C (p.Ile232=) rs765631121 0.00004
NM_183075.3(CYP2U1):c.1462C>T (p.Arg488Trp) rs141431913 0.00003
NM_183075.3(CYP2U1):c.417G>A (p.Ala139=) rs773648558 0.00003
NM_183075.3(CYP2U1):c.1106C>T (p.Ser369Leu) rs141112404 0.00002
NM_183075.3(CYP2U1):c.1253C>T (p.Pro418Leu) rs201629689 0.00002
NM_183075.3(CYP2U1):c.1288+11G>T rs770399433 0.00002
NM_183075.3(CYP2U1):c.387C>T (p.Val129=) rs577594501 0.00002
NM_183075.3(CYP2U1):c.636G>A (p.Lys212=) rs748925272 0.00002
NM_183075.3(CYP2U1):c.719G>A (p.Arg240His) rs145638445 0.00002
NM_183075.3(CYP2U1):c.1033A>G (p.Ile345Val) rs771350413 0.00001
NM_183075.3(CYP2U1):c.1119T>C (p.Asp373=) rs146900161 0.00001
NM_183075.3(CYP2U1):c.1122A>T (p.Val374=) rs1452292041 0.00001
NM_183075.3(CYP2U1):c.1178C>T (p.Ser393Phe) rs1374309961 0.00001
NM_183075.3(CYP2U1):c.1219A>G (p.Ile407Val) rs1560702525 0.00001
NM_183075.3(CYP2U1):c.1323G>C (p.Leu441Phe) rs770180255 0.00001
NM_183075.3(CYP2U1):c.1481A>G (p.Gln494Arg) rs1036607521 0.00001
NM_183075.3(CYP2U1):c.200C>T (p.Pro67Leu) rs1286338215 0.00001
NM_183075.3(CYP2U1):c.206T>C (p.Val69Ala) rs1467659782 0.00001
NM_183075.3(CYP2U1):c.267C>T (p.Ser89=) rs1470602766 0.00001
NM_183075.3(CYP2U1):c.29C>A (p.Pro10Gln) rs752252347 0.00001
NM_183075.3(CYP2U1):c.302T>C (p.Ile101Thr) rs1053725607 0.00001
NM_183075.3(CYP2U1):c.317T>C (p.Leu106Pro) rs1182340707 0.00001
NM_183075.3(CYP2U1):c.318C>T (p.Leu106=) rs1233601038 0.00001
NM_183075.3(CYP2U1):c.342C>A (p.Tyr114Ter) rs1021034246 0.00001
NM_183075.3(CYP2U1):c.343G>A (p.Gly115Ser) rs766889023 0.00001
NM_183075.3(CYP2U1):c.502G>A (p.Ala168Thr) rs369682117 0.00001
NM_183075.3(CYP2U1):c.508T>C (p.Tyr170His) rs1310829853 0.00001
NM_183075.3(CYP2U1):c.557G>A (p.Arg186His) rs746319505 0.00001
NM_183075.3(CYP2U1):c.565G>C (p.Gly189Arg) rs1401706343 0.00001
NM_183075.3(CYP2U1):c.648C>A (p.Asp216Glu) rs774149338 0.00001
NM_183075.3(CYP2U1):c.681C>T (p.Ala227=) rs760847189 0.00001
NM_183075.3(CYP2U1):c.888T>C (p.Ser296=) rs369116680 0.00001
NM_183075.3(CYP2U1):c.996T>C (p.Asn332=) rs746836401 0.00001
NM_183075.3(CYP2U1):c.99C>T (p.Ser33=) rs1322395741 0.00001
NC_000004.11:g.(?_108852800)_(108866781_?)del
NC_000004.11:g.(?_108853015)_(108855427_?)del
NC_000004.12:g.(?_107944960)_(107950433_?)dup
NM_183075.3(CYP2U1):c.1004G>A (p.Ser335Asn) rs142944337
NM_183075.3(CYP2U1):c.1023C>T (p.Tyr341=)
NM_183075.3(CYP2U1):c.1033_1034del (p.Ile345fs) rs1578729121
NM_183075.3(CYP2U1):c.1056T>C (p.Ala352=)
NM_183075.3(CYP2U1):c.107C>A (p.Ala36Glu) rs1351893573
NM_183075.3(CYP2U1):c.108G>A (p.Ala36=)
NM_183075.3(CYP2U1):c.1091del (p.Cys364fs)
NM_183075.3(CYP2U1):c.1107G>A (p.Ser369=)
NM_183075.3(CYP2U1):c.1126+19C>G
NM_183075.3(CYP2U1):c.1127-13C>G
NM_183075.3(CYP2U1):c.1127-17T>A rs6856745
NM_183075.3(CYP2U1):c.1148A>G (p.Glu383Gly)
NM_183075.3(CYP2U1):c.1150A>G (p.Arg384Gly)
NM_183075.3(CYP2U1):c.1152_1153del (p.Arg384fs) rs759033144
NM_183075.3(CYP2U1):c.1156A>G (p.Ile386Val)
NM_183075.3(CYP2U1):c.115C>T (p.Leu39=)
NM_183075.3(CYP2U1):c.1167C>T (p.Asn389=)
NM_183075.3(CYP2U1):c.1168C>T (p.Arg390Ter) rs772400670
NM_183075.3(CYP2U1):c.1169G>A (p.Arg390Gln)
NM_183075.3(CYP2U1):c.1174C>A (p.Pro392Thr)
NM_183075.3(CYP2U1):c.117A>C (p.Leu39=)
NM_183075.3(CYP2U1):c.1184C>T (p.Thr395Ile)
NM_183075.3(CYP2U1):c.1199T>C (p.Met400Thr)
NM_183075.3(CYP2U1):c.11C>T (p.Pro4Leu)
NM_183075.3(CYP2U1):c.1207A>C (p.Thr403Pro)
NM_183075.3(CYP2U1):c.1210_1211del (p.Glu404fs) rs767024102
NM_183075.3(CYP2U1):c.1224G>A (p.Met408Ile) rs1290682250
NM_183075.3(CYP2U1):c.1254G>A (p.Pro418=)
NM_183075.3(CYP2U1):c.1258G>A (p.Ala420Thr) rs778851531
NM_183075.3(CYP2U1):c.1264C>G (p.Pro422Ala) rs1733742814
NM_183075.3(CYP2U1):c.1270A>G (p.Met424Val)
NM_183075.3(CYP2U1):c.127G>C (p.Val43Leu) rs1031064765
NM_183075.3(CYP2U1):c.1288+12G>T rs2126201170
NM_183075.3(CYP2U1):c.1289-3del
NM_183075.3(CYP2U1):c.1289-8T>C rs1733827276
NM_183075.3(CYP2U1):c.128T>C (p.Val43Ala)
NM_183075.3(CYP2U1):c.1293C>G (p.Leu431=)
NM_183075.3(CYP2U1):c.1301A>G (p.Tyr434Cys)
NM_183075.3(CYP2U1):c.1392T>C (p.Pro464=)
NM_183075.3(CYP2U1):c.1410C>T (p.Asp470=) rs2126202758
NM_183075.3(CYP2U1):c.143G>T (p.Trp48Leu)
NM_183075.3(CYP2U1):c.1450G>A (p.Gly484Arg)
NM_183075.3(CYP2U1):c.1463G>A (p.Arg488Gln) rs762873672
NM_183075.3(CYP2U1):c.1466T>C (p.Val489Ala)
NM_183075.3(CYP2U1):c.1473G>A (p.Met491Ile)
NM_183075.3(CYP2U1):c.1493T>C (p.Met498Thr)
NM_183075.3(CYP2U1):c.1517del (p.Ser506fs)
NM_183075.3(CYP2U1):c.1519C>T (p.Leu507=)
NM_183075.3(CYP2U1):c.1524G>T (p.Met508Ile)
NM_183075.3(CYP2U1):c.1527G>C (p.Gln509His) rs2126203368
NM_183075.3(CYP2U1):c.154C>T (p.Arg52Trp) rs1732990193
NM_183075.3(CYP2U1):c.155G>C (p.Arg52Pro)
NM_183075.3(CYP2U1):c.1567C>T (p.Leu523Phe)
NM_183075.3(CYP2U1):c.1585G>T (p.Gly529Cys) rs1578736266
NM_183075.3(CYP2U1):c.1615A>G (p.Ile539Val)
NM_183075.3(CYP2U1):c.1616T>A (p.Ile539Lys)
NM_183075.3(CYP2U1):c.168G>T (p.Ala56=)
NM_183075.3(CYP2U1):c.174C>T (p.Gly58=)
NM_183075.3(CYP2U1):c.183C>T (p.Pro61=)
NM_183075.3(CYP2U1):c.186G>T (p.Gly62=)
NM_183075.3(CYP2U1):c.195C>T (p.Pro65=)
NM_183075.3(CYP2U1):c.213C>G (p.Asn71Lys) rs2126188271
NM_183075.3(CYP2U1):c.216C>T (p.Phe72=)
NM_183075.3(CYP2U1):c.235C>T (p.Pro79Ser)
NM_183075.3(CYP2U1):c.244C>T (p.Arg82Trp) rs1476927058
NM_183075.3(CYP2U1):c.261G>C (p.Leu87=) rs1732999423
NM_183075.3(CYP2U1):c.281C>T (p.Ala94Val)
NM_183075.3(CYP2U1):c.294C>T (p.Pro98=)
NM_183075.3(CYP2U1):c.305G>T (p.Gly102Val) rs2126188410
NM_183075.3(CYP2U1):c.30G>A (p.Pro10=)
NM_183075.3(CYP2U1):c.313G>A (p.Val105Met)
NM_183075.3(CYP2U1):c.31_42dup (p.Ala11_Pro14dup) rs1026306428
NM_183075.3(CYP2U1):c.340T>A (p.Tyr114Asn) rs1733005836
NM_183075.3(CYP2U1):c.345C>T (p.Gly115=) rs2126188483
NM_183075.3(CYP2U1):c.367_375del (p.Gly123_Tyr125del) rs2126188525
NM_183075.3(CYP2U1):c.392_393delinsTT (p.Ser131Ile)
NM_183075.3(CYP2U1):c.411C>T (p.Arg137=) rs2126188577
NM_183075.3(CYP2U1):c.412G>A (p.Glu138Lys)
NM_183075.3(CYP2U1):c.420G>C (p.Leu140=)
NM_183075.3(CYP2U1):c.491-13T>C
NM_183075.3(CYP2U1):c.503C>T (p.Ala168Val)
NM_183075.3(CYP2U1):c.507T>C (p.His169=)
NM_183075.3(CYP2U1):c.514C>T (p.Pro172Ser)
NM_183075.3(CYP2U1):c.516C>T (p.Pro172=)
NM_183075.3(CYP2U1):c.543_544del (p.His182fs)
NM_183075.3(CYP2U1):c.544C>G (p.His182Asp)
NM_183075.3(CYP2U1):c.54G>A (p.Ala18=)
NM_183075.3(CYP2U1):c.551C>A (p.Thr184Asn)
NM_183075.3(CYP2U1):c.57C>G (p.Arg19=)
NM_183075.3(CYP2U1):c.591C>G (p.Pro197=)
NM_183075.3(CYP2U1):c.5C>T (p.Ser2Leu) rs550088634
NM_183075.3(CYP2U1):c.640G>A (p.Gly214Arg) rs539068584
NM_183075.3(CYP2U1):c.64C>T (p.Arg22Cys)
NM_183075.3(CYP2U1):c.654_661del (p.Cys219fs)
NM_183075.3(CYP2U1):c.666C>T (p.Ser222=)
NM_183075.3(CYP2U1):c.682G>A (p.Val228Ile)
NM_183075.3(CYP2U1):c.701C>T (p.Ser234Phe) rs1370303971
NM_183075.3(CYP2U1):c.718C>T (p.Arg240Cys)
NM_183075.3(CYP2U1):c.734A>G (p.Asn245Ser)
NM_183075.3(CYP2U1):c.737G>C (p.Ser246Thr)
NM_183075.3(CYP2U1):c.74T>C (p.Leu25Pro)
NM_183075.3(CYP2U1):c.767C>T (p.Ser256Leu) rs377203075
NM_183075.3(CYP2U1):c.770G>A (p.Arg257Gln)
NM_183075.3(CYP2U1):c.774C>G (p.Gly258=)
NM_183075.3(CYP2U1):c.784T>G (p.Cys262Gly)
NM_183075.3(CYP2U1):c.831T>C (p.Tyr277=)
NM_183075.3(CYP2U1):c.854del (p.Lys285fs) rs762698300
NM_183075.3(CYP2U1):c.864A>G (p.Arg288=) rs2126199461
NM_183075.3(CYP2U1):c.869T>A (p.Ile290Asn) rs761095930
NM_183075.3(CYP2U1):c.869T>C (p.Ile290Thr) rs761095930
NM_183075.3(CYP2U1):c.88C>T (p.Leu30=)
NM_183075.3(CYP2U1):c.890T>C (p.Phe297Ser) rs1578728816
NM_183075.3(CYP2U1):c.891C>T (p.Phe297=)
NM_183075.3(CYP2U1):c.899A>C (p.Lys300Thr)
NM_183075.3(CYP2U1):c.904A>T (p.Ile302Phe)
NM_183075.3(CYP2U1):c.923C>G (p.Ser308Cys)
NM_183075.3(CYP2U1):c.924T>C (p.Ser308=)
NM_183075.3(CYP2U1):c.930T>C (p.Asp310=)
NM_183075.3(CYP2U1):c.940C>T (p.Pro314Ser)
NM_183075.3(CYP2U1):c.946G>C (p.Asp316His) rs766970458
NM_183075.3(CYP2U1):c.947A>T (p.Asp316Val) rs397514513
NM_183075.3(CYP2U1):c.947_948del (p.Asp316fs) rs2126199530
NM_183075.3(CYP2U1):c.950T>A (p.Phe317Tyr) rs1733663700
NM_183075.3(CYP2U1):c.953T>C (p.Ile318Thr)
NM_183075.3(CYP2U1):c.956A>T (p.Asp319Val)
NM_183075.3(CYP2U1):c.958A>G (p.Met320Val)
NM_183075.3(CYP2U1):c.95C>T (p.Pro32Leu) rs2126188056
NM_183075.3(CYP2U1):c.976G>A (p.Glu326Lys)
NM_183075.3(CYP2U1):c.98G>T (p.Ser33Ile)

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