ClinVar Miner

List of variants in gene CYP7B1 reported as uncertain significance for Spastic paraplegia

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Gene type:
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Total variants: 149
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HGVS dbSNP gnomAD frequency
NM_004820.5(CYP7B1):c.530C>T (p.Thr177Met) rs145152682 0.00054
NM_004820.5(CYP7B1):c.1371G>A (p.Met457Ile) rs771055759 0.00021
NM_004820.5(CYP7B1):c.350A>C (p.Lys117Thr) rs138977616 0.00016
NM_004820.5(CYP7B1):c.929G>A (p.Arg310Gln) rs201867790 0.00016
NM_004820.5(CYP7B1):c.1457G>A (p.Arg486His) rs755729966 0.00014
NM_004820.5(CYP7B1):c.1018C>T (p.His340Tyr) rs757698965 0.00011
NM_004820.5(CYP7B1):c.101G>A (p.Cys34Tyr) rs1031580133 0.00010
NM_004820.5(CYP7B1):c.1507A>G (p.Lys503Glu) rs886043568 0.00010
NM_004820.5(CYP7B1):c.850+5G>C rs202155727 0.00010
NM_004820.5(CYP7B1):c.125G>A (p.Arg42Lys) rs375384257 0.00007
NM_004820.5(CYP7B1):c.334C>T (p.Arg112Ter) rs200737038 0.00007
NM_004820.5(CYP7B1):c.1132C>G (p.Leu378Val) rs766368787 0.00006
NM_004820.5(CYP7B1):c.1147G>A (p.Gly383Arg) rs747144103 0.00006
NM_004820.5(CYP7B1):c.629G>A (p.Ser210Asn) rs886044713 0.00006
NM_004820.5(CYP7B1):c.1100C>T (p.Thr367Ile) rs999676674 0.00005
NM_004820.5(CYP7B1):c.515C>A (p.Thr172Asn) rs569241534 0.00004
NM_004820.5(CYP7B1):c.613A>C (p.Asn205His) rs137880436 0.00004
NM_004820.5(CYP7B1):c.832G>A (p.Glu278Lys) rs751907012 0.00004
NM_004820.5(CYP7B1):c.928C>T (p.Arg310Trp) rs746439960 0.00004
NM_004820.5(CYP7B1):c.1171G>A (p.Asp391Asn) rs1458654195 0.00003
NM_004820.5(CYP7B1):c.1233G>A (p.Glu411=) rs369566738 0.00003
NM_004820.5(CYP7B1):c.349A>G (p.Lys117Glu) rs368626966 0.00003
NM_004820.5(CYP7B1):c.695T>C (p.Ile232Thr) rs373829533 0.00003
NM_004820.5(CYP7B1):c.835G>A (p.Asp279Asn) rs766759427 0.00003
NM_004820.5(CYP7B1):c.898A>G (p.Thr300Ala) rs749129791 0.00003
NM_004820.5(CYP7B1):c.1220T>C (p.Phe407Ser) rs769450032 0.00002
NM_004820.5(CYP7B1):c.1400T>C (p.Leu467Ser) rs1032229386 0.00002
NM_004820.5(CYP7B1):c.1430A>G (p.Asp477Gly) rs745805058 0.00002
NM_004820.5(CYP7B1):c.147A>G (p.Ile49Met) rs774259036 0.00002
NM_004820.5(CYP7B1):c.151G>A (p.Gly51Ser) rs961524982 0.00002
NM_004820.5(CYP7B1):c.478A>G (p.Asn160Asp) rs775784484 0.00002
NM_004820.5(CYP7B1):c.538C>G (p.Leu180Val) rs1298248066 0.00002
NM_004820.5(CYP7B1):c.608G>A (p.Cys203Tyr) rs746173425 0.00002
NM_004820.5(CYP7B1):c.941C>T (p.Ala314Val) rs775227835 0.00002
NM_004820.5(CYP7B1):c.1031A>C (p.Glu344Ala) rs1057518485 0.00001
NM_004820.5(CYP7B1):c.1061G>A (p.Ser354Asn) rs753708048 0.00001
NM_004820.5(CYP7B1):c.112C>T (p.Arg38Trp) rs1169097528 0.00001
NM_004820.5(CYP7B1):c.1153T>C (p.Tyr385His) rs1805252495 0.00001
NM_004820.5(CYP7B1):c.1193C>T (p.Pro398Leu) rs767611387 0.00001
NM_004820.5(CYP7B1):c.1234G>A (p.Glu412Lys) rs116462183 0.00001
NM_004820.5(CYP7B1):c.1256T>C (p.Ile419Thr) rs778082094 0.00001
NM_004820.5(CYP7B1):c.1310G>A (p.Cys437Tyr) rs886063072 0.00001
NM_004820.5(CYP7B1):c.1322C>T (p.Pro441Leu) rs1376071051 0.00001
NM_004820.5(CYP7B1):c.1355G>A (p.Arg452Gln) rs775806979 0.00001
NM_004820.5(CYP7B1):c.1468G>T (p.Gly490Cys) rs1259728204 0.00001
NM_004820.5(CYP7B1):c.148A>C (p.Lys50Gln) rs981969611 0.00001
NM_004820.5(CYP7B1):c.360G>C (p.Glu120Asp) rs1471658177 0.00001
NM_004820.5(CYP7B1):c.440G>A (p.Gly147Asp) rs754730601 0.00001
NM_004820.5(CYP7B1):c.581C>G (p.Thr194Arg) rs1316960085 0.00001
NM_004820.5(CYP7B1):c.70C>G (p.Leu24Val) rs1804748061 0.00001
NM_004820.5(CYP7B1):c.77C>T (p.Ala26Val) rs754214163 0.00001
NM_004820.5(CYP7B1):c.819A>C (p.Lys273Asn) rs1331028527 0.00001
NM_004820.5(CYP7B1):c.910G>A (p.Ala304Thr) rs748070308 0.00001
NM_004820.5(CYP7B1):c.92T>A (p.Leu31Gln) rs886063076 0.00001
NM_004820.5(CYP7B1):c.945_947dup (p.Ala317dup) rs757326595 0.00001
NM_004820.5(CYP7B1):c.955C>T (p.Arg319Cys) rs1410531135 0.00001
NM_004820.5(CYP7B1):c.956G>T (p.Arg319Leu) rs767826482 0.00001
NC_000008.10:g.(?_65509199)_(65711144_?)dup
NM_004820.5(CYP7B1):c.1027A>G (p.Arg343Gly)
NM_004820.5(CYP7B1):c.1037T>C (p.Leu346Ser) rs778365454
NM_004820.5(CYP7B1):c.1039G>A (p.Asp347Asn) rs2129630164
NM_004820.5(CYP7B1):c.104T>C (p.Leu35Ser) rs2129747643
NM_004820.5(CYP7B1):c.104T>G (p.Leu35Trp) rs2129747643
NM_004820.5(CYP7B1):c.105G>C (p.Leu35Phe) rs1563432681
NM_004820.5(CYP7B1):c.105G>T (p.Leu35Phe) rs1563432681
NM_004820.5(CYP7B1):c.1091C>T (p.Ser364Leu) rs770065565
NM_004820.5(CYP7B1):c.110T>A (p.Val37Asp)
NM_004820.5(CYP7B1):c.110T>C (p.Val37Ala)
NM_004820.5(CYP7B1):c.1151A>T (p.Asp384Val)
NM_004820.5(CYP7B1):c.1160T>C (p.Val387Ala)
NM_004820.5(CYP7B1):c.1163G>A (p.Arg388Gln) rs1394828774
NM_004820.5(CYP7B1):c.116G>A (p.Arg39His)
NM_004820.5(CYP7B1):c.1171G>T (p.Asp391Tyr)
NM_004820.5(CYP7B1):c.1183A>G (p.Ile395Val)
NM_004820.5(CYP7B1):c.118A>C (p.Thr40Pro)
NM_004820.5(CYP7B1):c.1190C>T (p.Pro397Leu)
NM_004820.5(CYP7B1):c.122+2dup
NM_004820.5(CYP7B1):c.1222G>A (p.Glu408Lys) rs2129629940
NM_004820.5(CYP7B1):c.123-3T>C rs2129630435
NM_004820.5(CYP7B1):c.1233+5G>A
NM_004820.5(CYP7B1):c.137C>T (p.Pro46Leu)
NM_004820.5(CYP7B1):c.1390G>A (p.Val464Ile)
NM_004820.5(CYP7B1):c.1438A>G (p.Ile480Val) rs1185020031
NM_004820.5(CYP7B1):c.1441G>A (p.Gly481Arg) rs1212638244
NM_004820.5(CYP7B1):c.1442G>T (p.Gly481Val)
NM_004820.5(CYP7B1):c.1456C>A (p.Arg486Ser) rs116171274
NM_004820.5(CYP7B1):c.1474C>T (p.Gln492Ter) rs2129629748
NM_004820.5(CYP7B1):c.1481C>A (p.Pro494Gln) rs1394882103
NM_004820.5(CYP7B1):c.1481C>T (p.Pro494Leu) rs1394882103
NM_004820.5(CYP7B1):c.1485T>A (p.Asp495Glu)
NM_004820.5(CYP7B1):c.167T>C (p.Leu56Pro) rs1412631149
NM_004820.5(CYP7B1):c.176T>C (p.Val59Ala) rs369433292
NM_004820.5(CYP7B1):c.191A>G (p.Lys64Arg) rs2129630430
NM_004820.5(CYP7B1):c.193G>A (p.Asp65Asn)
NM_004820.5(CYP7B1):c.197C>G (p.Pro66Arg) rs878854745
NM_004820.5(CYP7B1):c.204G>C (p.Arg68Ser) rs377119798
NM_004820.5(CYP7B1):c.204G>T (p.Arg68Ser) rs377119798
NM_004820.5(CYP7B1):c.217C>T (p.Leu73Phe)
NM_004820.5(CYP7B1):c.248T>G (p.Val83Gly)
NM_004820.5(CYP7B1):c.251T>G (p.Leu84Arg) rs952824008
NM_004820.5(CYP7B1):c.260G>T (p.Gly87Val) rs587777221
NM_004820.5(CYP7B1):c.265T>C (p.Tyr89His)
NM_004820.5(CYP7B1):c.266A>G (p.Tyr89Cys)
NM_004820.5(CYP7B1):c.271A>G (p.Thr91Ala) rs1805446410
NM_004820.5(CYP7B1):c.337G>A (p.Val113Ile)
NM_004820.5(CYP7B1):c.344C>G (p.Ser115Cys) rs762579939
NM_004820.5(CYP7B1):c.344C>T (p.Ser115Phe)
NM_004820.5(CYP7B1):c.359A>C (p.Glu120Ala) rs2129630220
NM_004820.5(CYP7B1):c.416A>T (p.His139Leu)
NM_004820.5(CYP7B1):c.418C>T (p.Leu140Phe)
NM_004820.5(CYP7B1):c.438A>G (p.Gln146=)
NM_004820.5(CYP7B1):c.456A>G (p.Ile152Met) rs1805441459
NM_004820.5(CYP7B1):c.463G>A (p.Glu155Lys)
NM_004820.5(CYP7B1):c.473T>A (p.Met158Lys)
NM_004820.5(CYP7B1):c.500C>G (p.Pro167Arg) rs1173341823
NM_004820.5(CYP7B1):c.517A>C (p.Thr173Pro)
NM_004820.5(CYP7B1):c.521G>T (p.Ser174Ile)
NM_004820.5(CYP7B1):c.529A>G (p.Thr177Ala)
NM_004820.5(CYP7B1):c.535G>A (p.Glu179Lys)
NM_004820.5(CYP7B1):c.537A>T (p.Glu179Asp) rs2129630212
NM_004820.5(CYP7B1):c.56T>G (p.Leu19Arg) rs72554624
NM_004820.5(CYP7B1):c.575C>T (p.Thr192Ile)
NM_004820.5(CYP7B1):c.592G>C (p.Gly198Arg) rs1805436635
NM_004820.5(CYP7B1):c.59C>A (p.Pro20Gln)
NM_004820.5(CYP7B1):c.612CAA[2] (p.Asn206del) rs755178154
NM_004820.5(CYP7B1):c.614A>G (p.Asn205Ser)
NM_004820.5(CYP7B1):c.619A>G (p.Lys207Glu) rs863224730
NM_004820.5(CYP7B1):c.635T>C (p.Leu212Pro)
NM_004820.5(CYP7B1):c.650T>C (p.Leu217Ser) rs1245262159
NM_004820.5(CYP7B1):c.653A>G (p.Lys218Arg) rs2129630203
NM_004820.5(CYP7B1):c.680T>C (p.Val227Ala) rs2129630201
NM_004820.5(CYP7B1):c.704T>C (p.Leu235Pro)
NM_004820.5(CYP7B1):c.74C>A (p.Ala25Asp)
NM_004820.5(CYP7B1):c.771G>T (p.Met257Ile)
NM_004820.5(CYP7B1):c.80C>T (p.Ala27Val)
NM_004820.5(CYP7B1):c.815A>G (p.Glu272Gly) rs1585808076
NM_004820.5(CYP7B1):c.830A>C (p.His277Pro) rs145521868
NM_004820.5(CYP7B1):c.831C>A (p.His277Gln)
NM_004820.5(CYP7B1):c.835G>T (p.Asp279Tyr) rs766759427
NM_004820.5(CYP7B1):c.850+3A>G rs2129630188
NM_004820.5(CYP7B1):c.850+4del
NM_004820.5(CYP7B1):c.854A>G (p.His285Arg) rs750781606
NM_004820.5(CYP7B1):c.88C>T (p.Leu30Phe)
NM_004820.5(CYP7B1):c.902T>C (p.Met301Thr) rs370002054
NM_004820.5(CYP7B1):c.907T>G (p.Trp303Gly) rs1430400622
NM_004820.5(CYP7B1):c.943A>G (p.Met315Val)
NM_004820.5(CYP7B1):c.970C>A (p.Arg324Ser) rs773055558
NM_004820.5(CYP7B1):c.970C>G (p.Arg324Gly) rs773055558
NM_004820.5(CYP7B1):c.98T>C (p.Leu33Pro)

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