ClinVar Miner

List of variants studied for 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency by Labcorp Genetics (formerly Invitae), Labcorp

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ClinVar version:
Total variants: 206
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HGVS dbSNP gnomAD frequency
NM_000348.4(SRD5A2):c.265C>G (p.Leu89Val) rs523349 0.70413
NM_000348.4(SRD5A2):c.281+15T>C rs522638 0.68085
NM_000348.4(SRD5A2):c.145G>A (p.Ala49Thr) rs9282858 0.01999
NM_000348.4(SRD5A2):c.548-18C>T rs28383063 0.00261
NM_000348.4(SRD5A2):c.594C>T (p.Ile198=) rs28383064 0.00259
NM_000348.4(SRD5A2):c.337C>G (p.Leu113Val) rs28383048 0.00180
NM_000348.4(SRD5A2):c.502C>T (p.Arg168Cys) rs374399753 0.00075
NM_000348.4(SRD5A2):c.734C>A (p.Ser245Tyr) rs145712014 0.00063
NM_000348.4(SRD5A2):c.210G>A (p.Arg70=) rs61750388 0.00054
NM_000348.4(SRD5A2):c.702C>G (p.Phe234Leu) rs9332966 0.00021
NM_000348.4(SRD5A2):c.696T>C (p.His232=) rs9332965 0.00018
NM_000348.4(SRD5A2):c.441C>T (p.Ser147=) rs201018300 0.00017
NM_000348.4(SRD5A2):c.680G>A (p.Arg227Gln) rs9332964 0.00016
NM_000348.4(SRD5A2):c.692A>G (p.His231Arg) rs121434251 0.00016
NM_000348.4(SRD5A2):c.698+7T>G rs569856323 0.00016
NM_000348.4(SRD5A2):c.548-13C>T rs563086989 0.00015
NM_000348.4(SRD5A2):c.586G>A (p.Gly196Ser) rs121434250 0.00015
NM_000348.4(SRD5A2):c.547G>A (p.Gly183Ser) rs121434247 0.00014
NM_000348.4(SRD5A2):c.281+20G>A rs61750392 0.00012
NM_000348.4(SRD5A2):c.588T>G (p.Gly196=) rs372906877 0.00012
NM_000348.4(SRD5A2):c.162C>T (p.Phe54=) rs61748133 0.00009
NM_000348.4(SRD5A2):c.196G>A (p.Gly66Arg) rs550866120 0.00009
NM_000348.4(SRD5A2):c.377A>G (p.Gln126Arg) rs368386747 0.00009
NM_000348.4(SRD5A2):c.737G>A (p.Arg246Gln) rs9332967 0.00009
NM_000348.4(SRD5A2):c.273C>T (p.Tyr91=) rs61750390 0.00008
NM_000348.4(SRD5A2):c.445+11C>T rs540377336 0.00007
NM_000348.4(SRD5A2):c.635C>G (p.Pro212Arg) rs121434252 0.00006
NM_000348.4(SRD5A2):c.331C>A (p.Leu111Ile) rs200206626 0.00005
NM_000348.4(SRD5A2):c.510C>T (p.Leu170=) rs267599352 0.00005
NM_000348.4(SRD5A2):c.537G>T (p.Arg179Ser) rs767928056 0.00005
NM_000348.4(SRD5A2):c.192C>T (p.Pro64=) rs754016224 0.00004
NM_000348.4(SRD5A2):c.513G>C (p.Arg171Ser) rs756405261 0.00004
NM_000348.4(SRD5A2):c.679C>T (p.Arg227Ter) rs121434248 0.00004
NM_000348.4(SRD5A2):c.111G>A (p.Thr37=) rs781961035 0.00003
NM_000348.4(SRD5A2):c.143C>T (p.Pro48Leu) rs61748122 0.00003
NM_000348.4(SRD5A2):c.281+10T>C rs1396697375 0.00003
NM_000348.4(SRD5A2):c.442T>C (p.Leu148=) rs1456241407 0.00003
NM_000348.4(SRD5A2):c.548-2A>C rs61750397 0.00003
NM_000348.4(SRD5A2):c.578A>G (p.Asn193Ser) rs763296857 0.00003
NM_000348.4(SRD5A2):c.736C>T (p.Arg246Trp) rs121434244 0.00003
NM_000348.4(SRD5A2):c.231G>A (p.Gly77=) rs779428810 0.00002
NM_000348.4(SRD5A2):c.344G>A (p.Gly115Asp) rs121434246 0.00002
NM_000348.4(SRD5A2):c.445+18C>A rs963617915 0.00002
NM_000348.4(SRD5A2):c.548-9T>G rs1057519061 0.00002
NM_000348.4(SRD5A2):c.585C>T (p.Leu195=) rs61750399 0.00002
NM_000348.4(SRD5A2):c.589G>A (p.Glu197Lys) rs534671822 0.00002
NM_000348.4(SRD5A2):c.607G>A (p.Gly203Ser) rs9332961 0.00002
NM_000348.4(SRD5A2):c.695A>G (p.His232Arg) rs748899308 0.00002
NM_000348.4(SRD5A2):c.100G>A (p.Gly34Arg) rs782032018 0.00001
NM_000348.4(SRD5A2):c.158G>A (p.Trp53Ter) rs1667063572 0.00001
NM_000348.4(SRD5A2):c.15C>T (p.Cys5=) rs1376240372 0.00001
NM_000348.4(SRD5A2):c.167A>G (p.Gln56Arg) rs1357268588 0.00001
NM_000348.4(SRD5A2):c.169G>C (p.Glu57Gln) rs750444774 0.00001
NM_000348.4(SRD5A2):c.16C>T (p.Gln6Ter) rs9332960 0.00001
NM_000348.4(SRD5A2):c.183C>T (p.Phe61=) rs61750385 0.00001
NM_000348.4(SRD5A2):c.211C>T (p.Gln71Ter) rs1060499834 0.00001
NM_000348.4(SRD5A2):c.243G>T (p.Thr81=) rs757969706 0.00001
NM_000348.4(SRD5A2):c.281+11T>C rs774959761 0.00001
NM_000348.4(SRD5A2):c.281+18C>T rs368886184 0.00001
NM_000348.4(SRD5A2):c.282-11G>T rs1218874300 0.00001
NM_000348.4(SRD5A2):c.282-18C>A rs2465633164 0.00001
NM_000348.4(SRD5A2):c.284C>T (p.Thr95Ile) rs891598499 0.00001
NM_000348.4(SRD5A2):c.303C>T (p.Leu101=) rs1168244767 0.00001
NM_000348.4(SRD5A2):c.321T>C (p.Tyr107=) rs781214178 0.00001
NM_000348.4(SRD5A2):c.33G>A (p.Leu11=) rs1327523028 0.00001
NM_000348.4(SRD5A2):c.358A>C (p.Thr120Pro) rs764433016 0.00001
NM_000348.4(SRD5A2):c.39C>A (p.Gly13=) rs938699371 0.00001
NM_000348.4(SRD5A2):c.402T>C (p.Ala134=) rs1236417508 0.00001
NM_000348.4(SRD5A2):c.492_493insGA (p.Tyr165fs) rs1399412484 0.00001
NM_000348.4(SRD5A2):c.531C>T (p.Ser177=) rs1251554698 0.00001
NM_000348.4(SRD5A2):c.542C>T (p.Pro181Leu) rs1057517829 0.00001
NM_000348.4(SRD5A2):c.547+11C>G rs1401709686 0.00001
NM_000348.4(SRD5A2):c.547+16C>A rs1656013707 0.00001
NM_000348.4(SRD5A2):c.547+17C>T rs764786456 0.00001
NM_000348.4(SRD5A2):c.548-6A>T rs756730322 0.00001
NM_000348.4(SRD5A2):c.54C>T (p.Val18=) rs769913545 0.00001
NM_000348.4(SRD5A2):c.591G>T (p.Glu197Asp) rs121434253 0.00001
NM_000348.4(SRD5A2):c.598G>A (p.Glu200Lys) rs756853742 0.00001
NM_000348.4(SRD5A2):c.59T>C (p.Leu20Pro) rs761824859 0.00001
NM_000348.4(SRD5A2):c.620C>A (p.Ala207Asp) rs767564684 0.00001
NM_000348.4(SRD5A2):c.621C>T (p.Ala207=) rs1665854990 0.00001
NM_000348.4(SRD5A2):c.678G>T (p.Leu226=) rs1488349870 0.00001
NM_000348.4(SRD5A2):c.689A>C (p.His230Pro) rs1477486919 0.00001
NM_000348.4(SRD5A2):c.698+20C>T rs754869601 0.00001
NM_000348.4(SRD5A2):c.699-15T>C rs1291250228 0.00001
NM_000348.4(SRD5A2):c.699-18T>C rs961535017 0.00001
NM_000348.4(SRD5A2):c.699-20A>G rs1197189568 0.00001
NM_000348.4(SRD5A2):c.704A>T (p.Tyr235Phe) rs772283403 0.00001
NM_000348.4(SRD5A2):c.75G>A (p.Leu25=) rs782168484 0.00001
NM_000348.4(SRD5A2):c.92C>T (p.Ser31Phe) rs782496734 0.00001
NM_000348.4(SRD5A2):c.94G>A (p.Gly32Ser) rs781783385 0.00001
NM_000348.4(SRD5A2):c.95G>T (p.Gly32Val) rs1328422263 0.00001
NM_000348.4(SRD5A2):c.99C>T (p.Tyr33=) rs370526755 0.00001
NC_000002.11:g.(?_31598226)_(31805969_?)dup
NC_000002.11:g.(?_31751246)_(31805989_?)dup
NC_000002.11:g.(?_31751266)_(31751352_?)del
NC_000002.11:g.(?_31751266)_(31758856_?)del
NC_000002.11:g.(?_31751266)_(31805969_?)del
NC_000002.11:g.(?_31758653)_(31758856_?)del
NC_000002.11:g.(?_31805670)_(31805969_?)del
NC_000002.11:g.(?_31805670)_(31805969_?)dup
NC_000002.12:g.(?_31531351)_(31531492_?)del
NM_000348.4(SRD5A2):c.100G>C (p.Gly34Arg) rs782032018
NM_000348.4(SRD5A2):c.102del (p.Lys35fs) rs2465708568
NM_000348.4(SRD5A2):c.111G>C (p.Thr37=) rs781961035
NM_000348.4(SRD5A2):c.115_137del (p.Ser39fs) rs2465708465
NM_000348.4(SRD5A2):c.132T>A (p.Ala44=) rs2465708488
NM_000348.4(SRD5A2):c.139C>T (p.Leu47=) rs1215174536
NM_000348.4(SRD5A2):c.144del (p.Ala49fs) rs2465708443
NM_000348.4(SRD5A2):c.147C>T (p.Ala49=) rs2465708427
NM_000348.4(SRD5A2):c.153C>T (p.Ala51=) rs754498175
NM_000348.4(SRD5A2):c.164T>A (p.Leu55Gln) rs121434245
NM_000348.4(SRD5A2):c.172C>T (p.Leu58=) rs1463708428
NM_000348.4(SRD5A2):c.174G>A (p.Leu58=)
NM_000348.4(SRD5A2):c.192C>G (p.Pro64=) rs754016224
NM_000348.4(SRD5A2):c.193G>C (p.Ala65Pro) rs1186430097
NM_000348.4(SRD5A2):c.19C>T (p.Gln7Ter) rs566562286
NM_000348.4(SRD5A2):c.21G>A (p.Gln7=) rs2148107447
NM_000348.4(SRD5A2):c.228C>T (p.Phe76=) rs768439990
NM_000348.4(SRD5A2):c.258C>G (p.Leu86=) rs61750389
NM_000348.4(SRD5A2):c.25C>T (p.Pro9Ser) rs868322910
NM_000348.4(SRD5A2):c.264_265delinsTG (p.Leu89Val) rs2465708158
NM_000348.4(SRD5A2):c.267A>G (p.Leu89=)
NM_000348.4(SRD5A2):c.270T>C (p.His90=) rs756284261
NM_000348.4(SRD5A2):c.271T>C (p.Tyr91His) rs201175894
NM_000348.4(SRD5A2):c.281+13C>A rs61750391
NM_000348.4(SRD5A2):c.281+16del rs1373444387
NM_000348.4(SRD5A2):c.281+17G>A rs763356396
NM_000348.4(SRD5A2):c.281+18C>A rs368886184
NM_000348.4(SRD5A2):c.281+19G>A rs775228331
NM_000348.4(SRD5A2):c.281+19G>C rs775228331
NM_000348.4(SRD5A2):c.281+2T>C rs2465708102
NM_000348.4(SRD5A2):c.282-11G>A rs1218874300
NM_000348.4(SRD5A2):c.282-13C>T rs1281519152
NM_000348.4(SRD5A2):c.282-13del rs1239841070
NM_000348.4(SRD5A2):c.294C>T (p.Tyr98=)
NM_000348.4(SRD5A2):c.300G>A (p.Leu100=)
NM_000348.4(SRD5A2):c.307C>A (p.Arg103=) rs267599353
NM_000348.4(SRD5A2):c.307C>T (p.Arg103Ter) rs267599353
NM_000348.4(SRD5A2):c.312G>A (p.Gly104=) rs1209586039
NM_000348.4(SRD5A2):c.312del (p.Arg105fs) rs2465633048
NM_000348.4(SRD5A2):c.317del (p.Pro106fs) rs767595335
NM_000348.4(SRD5A2):c.318T>C (p.Pro106=) rs2465633011
NM_000348.4(SRD5A2):c.332_333del (p.Leu111fs)
NM_000348.4(SRD5A2):c.333C>T (p.Leu111=) rs980063971
NM_000348.4(SRD5A2):c.357del (p.Phe118_Cys119insTer) rs2148066893
NM_000348.4(SRD5A2):c.382T>A (p.Tyr128Asn) rs2465632811
NM_000348.4(SRD5A2):c.383A>G (p.Tyr128Cys) rs762483550
NM_000348.4(SRD5A2):c.385T>G (p.Tyr129Asp) rs1553324169
NM_000348.4(SRD5A2):c.403G>A (p.Glu135Lys) rs2465632720
NM_000348.4(SRD5A2):c.408C>T (p.Tyr136=) rs1665962916
NM_000348.4(SRD5A2):c.418del (p.Trp140fs) rs1224600457
NM_000348.4(SRD5A2):c.431dup (p.Arg145fs) rs2465632611
NM_000348.4(SRD5A2):c.433C>A (p.Arg145=)
NM_000348.4(SRD5A2):c.433C>T (p.Arg145Trp) rs759561106
NM_000348.4(SRD5A2):c.435G>A (p.Arg145=)
NM_000348.4(SRD5A2):c.445+15C>G rs1665961569
NM_000348.4(SRD5A2):c.445+16del rs2465632518
NM_000348.4(SRD5A2):c.446-10_446-8del rs758063160
NM_000348.4(SRD5A2):c.446-15C>G rs1419200994
NM_000348.4(SRD5A2):c.446-4C>T rs1267096240
NM_000348.4(SRD5A2):c.446-9T>C
NM_000348.4(SRD5A2):c.462T>C (p.Ile154=) rs1311309711
NM_000348.4(SRD5A2):c.480C>T (p.Asn160=) rs2465629065
NM_000348.4(SRD5A2):c.485A>C (p.His162Pro) rs1665904910
NM_000348.4(SRD5A2):c.504C>T (p.Arg168=) rs1665903991
NM_000348.4(SRD5A2):c.516G>A (p.Lys172=)
NM_000348.4(SRD5A2):c.535A>C (p.Arg179=) rs1165282112
NM_000348.4(SRD5A2):c.544C>T (p.Gln182Ter) rs2465628821
NM_000348.4(SRD5A2):c.547+19C>G rs1665901770
NM_000348.4(SRD5A2):c.547+19C>T rs1665901770
NM_000348.4(SRD5A2):c.547+1G>C rs2465628816
NM_000348.4(SRD5A2):c.548-17G>A
NM_000348.4(SRD5A2):c.548-4G>A rs763759170
NM_000348.4(SRD5A2):c.548-5C>T rs753272225
NM_000348.4(SRD5A2):c.548-6A>C rs756730322
NM_000348.4(SRD5A2):c.548-8G>C rs778464937
NM_000348.4(SRD5A2):c.561G>A (p.Thr187=) rs369072138
NM_000348.4(SRD5A2):c.561G>C (p.Thr187=) rs369072138
NM_000348.4(SRD5A2):c.564del (p.Thr187_Tyr188insTer) rs2465625779
NM_000348.4(SRD5A2):c.571G>A (p.Gly191Arg) rs2465625753
NM_000348.4(SRD5A2):c.602G>A (p.Trp201Ter) rs2465625226
NM_000348.4(SRD5A2):c.614C>A (p.Ala205Asp) rs973116318
NM_000348.4(SRD5A2):c.615C>T (p.Ala205=) rs755707244
NM_000348.4(SRD5A2):c.61G>C (p.Gly21Arg) rs1265216982
NM_000348.4(SRD5A2):c.623C>T (p.Thr208Ile) rs759318152
NM_000348.4(SRD5A2):c.630C>T (p.Ser210=) rs1284462856
NM_000348.4(SRD5A2):c.636A>G (p.Pro212=) rs763054985
NM_000348.4(SRD5A2):c.656del (p.Phe219fs) rs61748127
NM_000348.4(SRD5A2):c.682G>A (p.Ala228Thr) rs121434249
NM_000348.4(SRD5A2):c.683C>T (p.Ala228Val) rs1553323488
NM_000348.4(SRD5A2):c.687T>C (p.Phe229=) rs2465624845
NM_000348.4(SRD5A2):c.687del (p.His230fs) rs2465624850
NM_000348.4(SRD5A2):c.698+1G>T rs747672984
NM_000348.4(SRD5A2):c.705C>T (p.Tyr235=) rs746237696
NM_000348.4(SRD5A2):c.72C>G (p.Ala24=) rs2465708668
NM_000348.4(SRD5A2):c.747T>A (p.Leu249=) rs2465619341
NM_000348.4(SRD5A2):c.78C>T (p.Tyr26=) rs104893667
NM_000348.4(SRD5A2):c.81C>G (p.Val27=) rs2465708650
NM_000348.4(SRD5A2):c.81C>T (p.Val27=) rs2465708650
NM_000348.4(SRD5A2):c.81_94delCGCGAAGCCCTCCG (p.Ala28Leufs) rs782761865
NM_000348.4(SRD5A2):c.82_88del (p.Ala28fs) rs2465708615
NM_000348.4(SRD5A2):c.84G>A (p.Ala28=) rs782721030
NM_000348.4(SRD5A2):c.90dup (p.Ser31fs) rs142200057
NM_000348.4(SRD5A2):c.93C>T (p.Ser31=) rs973491449
NM_000348.4(SRD5A2):c.96C>A (p.Gly32=) rs782722082

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