ClinVar Miner

List of variants in gene SRD5A2 studied for 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 276
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HGVS dbSNP gnomAD frequency
NM_000348.4(SRD5A2):c.265C>G (p.Leu89Val) rs523349 0.71022
NG_008365.2(SRD5A2):g.87047G>C rs632148 0.68927
NM_000348.4(SRD5A2):c.281+15T>C rs522638 0.68085
NM_000348.4(SRD5A2):c.*1552G>A rs1042578 0.16392
NM_000348.4(SRD5A2):c.*849A>G rs9332975 0.13522
NM_000348.4(SRD5A2):c.*91C>T rs192604242 0.09986
NM_000348.4(SRD5A2):c.*88T>A rs370989010 0.09406
NM_000348.4(SRD5A2):c.*1056G>C rs28383085 0.04363
NM_000348.4(SRD5A2):c.145G>A (p.Ala49Thr) rs9282858 0.02117
NM_000348.4(SRD5A2):c.*43G>A rs28383082 0.00951
NM_000348.4(SRD5A2):c.*1356A>C rs28383087 0.00919
NM_000348.4(SRD5A2):c.*1273A>G rs28383086 0.00863
NM_000348.4(SRD5A2):c.*224A>T rs28383083 0.00862
NM_000348.4(SRD5A2):c.*259T>C rs61750400 0.00652
NM_000348.4(SRD5A2):c.*981G>A rs191186592 0.00429
NM_000348.4(SRD5A2):c.*372G>A rs147184986 0.00370
NM_000348.4(SRD5A2):c.548-18C>T rs28383063 0.00290
NM_000348.4(SRD5A2):c.594C>T (p.Ile198=) rs28383064 0.00287
NM_000348.4(SRD5A2):c.337C>G (p.Leu113Val) rs28383048 0.00188
NM_000348.4(SRD5A2):c.*672T>A rs75984166 0.00167
NM_000348.4(SRD5A2):c.*120G>A rs578234141 0.00133
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.*119C>T rs187924868 0.00051
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.547G>A (p.Gly183Ser) rs121434247 0.00015
NM_000348.4(SRD5A2):c.586G>A (p.Gly196Ser) rs121434250 0.00015
NM_000348.4(SRD5A2):c.702C>G (p.Phe234Leu) rs9332966 0.00014
NM_000348.4(SRD5A2):c.151G>A (p.Ala51Thr) rs61748123 0.00012
NM_000348.4(SRD5A2):c.281+20G>A rs61750392 0.00012
NM_000348.4(SRD5A2):c.*1422G>A rs757100337 0.00011
NM_000348.4(SRD5A2):c.*278C>T rs151234587 0.00011
NM_000348.4(SRD5A2):c.162C>T (p.Phe54=) rs61748133 0.00009
NM_000348.4(SRD5A2):c.273C>T (p.Tyr91=) rs61750390 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.635C>G (p.Pro212Arg) rs121434252 0.00006
NM_000348.4(SRD5A2):c.331C>A (p.Leu111Ile) rs200206626 0.00005
NM_000348.4(SRD5A2):c.537G>T (p.Arg179Ser) rs767928056 0.00004
NM_000348.4(SRD5A2):c.679C>T (p.Arg227Ter) rs121434248 0.00004
NM_000348.4(SRD5A2):c.-20C>T rs769873996 0.00003
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.271T>G (p.Tyr91Asp) rs201175894 0.00003
NM_000348.4(SRD5A2):c.534C>A (p.Tyr178Ter) rs1200261940 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.*392A>C rs1194956705 0.00002
NM_000348.4(SRD5A2):c.16C>T (p.Gln6Ter) rs9332960 0.00002
NM_000348.4(SRD5A2):c.344G>A (p.Gly115Asp) rs121434246 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.598G>A (p.Glu200Lys) rs756853742 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_000348.3(SRD5A2):c.-55G>A rs577957973 0.00001
NM_000348.4(SRD5A2):c.*1133A>G rs886055949 0.00001
NM_000348.4(SRD5A2):c.*1492A>G rs28383088 0.00001
NM_000348.4(SRD5A2):c.*286A>G rs886055952 0.00001
NM_000348.4(SRD5A2):c.*686G>T rs886055950 0.00001
NM_000348.4(SRD5A2):c.100G>A (p.Gly34Arg) rs782032018 0.00001
NM_000348.4(SRD5A2):c.169G>C (p.Glu57Gln) rs750444774 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.281+11T>C rs774959761 0.00001
NM_000348.4(SRD5A2):c.358A>C (p.Thr120Pro) rs764433016 0.00001
NM_000348.4(SRD5A2):c.542C>T (p.Pro181Leu) rs1057517829 0.00001
NM_000348.4(SRD5A2):c.554T>C (p.Leu185Ser) rs574377752 0.00001
NM_000348.4(SRD5A2):c.589G>A (p.Glu197Lys) rs534671822 0.00001
NM_000348.4(SRD5A2):c.591G>T (p.Glu197Asp) rs121434253 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.704A>T (p.Tyr235Phe) rs772283403 0.00001
NM_000348.4(SRD5A2):c.95G>T (p.Gly32Val) rs1328422263 0.00001
GRCh37/hg19 2p23.1(chr2:31758677-31805700)
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.(?_31524586)_(31580971_?)del
NC_000002.12:g.(?_31531351)_(31531492_?)del
NC_000002.12:g.31532094_31545036delinsCA
NM_000348.3(SRD5A2):c.-64A>G rs886055956
NM_000348.3(SRD5A2):c.[548-9T>G];[680G>A]
NM_000348.3(SRD5A2):c.[680G>A];[694C>G]
NM_000348.4(SRD5A2):c.*1151_*1152dup rs74702388
NM_000348.4(SRD5A2):c.*1152del rs74702388
NM_000348.4(SRD5A2):c.*1242A>G rs1665741244
NM_000348.4(SRD5A2):c.*1290C>A rs549077867
NM_000348.4(SRD5A2):c.*1290C>G rs549077867
NM_000348.4(SRD5A2):c.*1384A>G rs1665736847
NM_000348.4(SRD5A2):c.*1440T>G rs1665735409
NM_000348.4(SRD5A2):c.*1504A>T rs1665733488
NM_000348.4(SRD5A2):c.*307A>G rs542605254
NM_000348.4(SRD5A2):c.*510T>G rs1665761786
NM_000348.4(SRD5A2):c.*572C>T rs1665760528
NM_000348.4(SRD5A2):c.*614T>A rs886055951
NM_000348.4(SRD5A2):c.*88_*91delinsACCTATATATATATATATATATAT rs886055954
NM_000348.4(SRD5A2):c.*90_*91delinsATATATATATATATATATATATATATATATATATAT rs886055953
NM_000348.4(SRD5A2):c.*90_*91delinsATATATATATATATATATATATATATATATATATATAT rs886055953
NM_000348.4(SRD5A2):c.100G>C (p.Gly34Arg) rs782032018
NM_000348.4(SRD5A2):c.102del (p.Lys35fs)
NM_000348.4(SRD5A2):c.10C>T (p.Gln4Ter)
NM_000348.4(SRD5A2):c.111G>C (p.Thr37=)
NM_000348.4(SRD5A2):c.115_137del (p.Ser39fs)
NM_000348.4(SRD5A2):c.132T>A (p.Ala44=)
NM_000348.4(SRD5A2):c.139C>T (p.Leu47=)
NM_000348.4(SRD5A2):c.144del (p.Ala49fs)
NM_000348.4(SRD5A2):c.147C>T (p.Ala49=)
NM_000348.4(SRD5A2):c.153C>T (p.Ala51=)
NM_000348.4(SRD5A2):c.158G>A (p.Trp53Ter)
NM_000348.4(SRD5A2):c.15C>T (p.Cys5=)
NM_000348.4(SRD5A2):c.164T>A (p.Leu55Gln) rs121434245
NM_000348.4(SRD5A2):c.164T>C (p.Leu55Pro) rs121434245
NM_000348.4(SRD5A2):c.167A>G (p.Gln56Arg)
NM_000348.4(SRD5A2):c.169G>T (p.Glu57Ter) rs750444774
NM_000348.4(SRD5A2):c.172C>T (p.Leu58=)
NM_000348.4(SRD5A2):c.192C>G (p.Pro64=)
NM_000348.4(SRD5A2):c.192C>T (p.Pro64=)
NM_000348.4(SRD5A2):c.193G>C (p.Ala65Pro) rs1186430097
NM_000348.4(SRD5A2):c.196G>A (p.Gly66Arg)
NM_000348.4(SRD5A2):c.19C>T (p.Gln7Ter)
NM_000348.4(SRD5A2):c.205G>T (p.Ala69Ser) rs1553329443
NM_000348.4(SRD5A2):c.218del (p.Leu73fs) rs1553329427
NM_000348.4(SRD5A2):c.21G>A (p.Gln7=) rs2148107447
NM_000348.4(SRD5A2):c.228C>T (p.Phe76=)
NM_000348.4(SRD5A2):c.230G>A (p.Gly77Glu) rs886055955
NM_000348.4(SRD5A2):c.231G>A (p.Gly77=)
NM_000348.4(SRD5A2):c.243G>T (p.Thr81=)
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.264C>G (p.Cys88Trp) rs867198056
NM_000348.4(SRD5A2):c.264_265delinsTG (p.Leu89Val)
NM_000348.4(SRD5A2):c.270T>C (p.His90=)
NM_000348.4(SRD5A2):c.271T>C (p.Tyr91His) rs201175894
NM_000348.4(SRD5A2):c.281+10T>C
NM_000348.4(SRD5A2):c.281+13C>A
NM_000348.4(SRD5A2):c.281+16del
NM_000348.4(SRD5A2):c.281+17G>A
NM_000348.4(SRD5A2):c.281+18C>A
NM_000348.4(SRD5A2):c.281+18C>T
NM_000348.4(SRD5A2):c.281+19G>A
NM_000348.4(SRD5A2):c.281+19G>C
NM_000348.4(SRD5A2):c.281+2T>C
NM_000348.4(SRD5A2):c.282-11G>A
NM_000348.4(SRD5A2):c.282-11G>T
NM_000348.4(SRD5A2):c.282-13C>T
NM_000348.4(SRD5A2):c.282-13del
NM_000348.4(SRD5A2):c.282-18C>A
NM_000348.4(SRD5A2):c.282-2A>G rs1340425455
NM_000348.4(SRD5A2):c.284C>T (p.Thr95Ile)
NM_000348.4(SRD5A2):c.303C>T (p.Leu101=)
NM_000348.4(SRD5A2):c.307C>A (p.Arg103=)
NM_000348.4(SRD5A2):c.307C>T (p.Arg103Ter) rs267599353
NM_000348.4(SRD5A2):c.311G>A (p.Gly104Glu)
NM_000348.4(SRD5A2):c.312G>A (p.Gly104=)
NM_000348.4(SRD5A2):c.312del (p.Arg105fs)
NM_000348.4(SRD5A2):c.317del (p.Pro106fs) rs767595335
NM_000348.4(SRD5A2):c.318T>C (p.Pro106=)
NM_000348.4(SRD5A2):c.321T>A (p.Tyr107Ter) rs781214178
NM_000348.4(SRD5A2):c.321T>C (p.Tyr107=)
NM_000348.4(SRD5A2):c.333C>T (p.Leu111=)
NM_000348.4(SRD5A2):c.33G>A (p.Leu11=)
NM_000348.4(SRD5A2):c.357del (p.Phe118_Cys119insTer) rs2148066893
NM_000348.4(SRD5A2):c.35C>A (p.Ala12Glu)
NM_000348.4(SRD5A2):c.382T>A (p.Tyr128Asn)
NM_000348.4(SRD5A2):c.383A>G (p.Tyr128Cys)
NM_000348.4(SRD5A2):c.383_384delinsGA (p.Tyr128Ter)
NM_000348.4(SRD5A2):c.384C>G (p.Tyr128Ter) rs1665963551
NM_000348.4(SRD5A2):c.385T>G (p.Tyr129Asp) rs1553324169
NM_000348.4(SRD5A2):c.39C>A (p.Gly13=)
NM_000348.4(SRD5A2):c.402T>C (p.Ala134=)
NM_000348.4(SRD5A2):c.403G>A (p.Glu135Lys)
NM_000348.4(SRD5A2):c.408C>T (p.Tyr136=)
NM_000348.4(SRD5A2):c.418del (p.Trp140fs)
NM_000348.4(SRD5A2):c.431dup (p.Arg145fs)
NM_000348.4(SRD5A2):c.433C>T (p.Arg145Trp)
NM_000348.4(SRD5A2):c.442T>C (p.Leu148=)
NM_000348.4(SRD5A2):c.445+11C>T
NM_000348.4(SRD5A2):c.445+15C>G
NM_000348.4(SRD5A2):c.445+16del
NM_000348.4(SRD5A2):c.445+18C>A
NM_000348.4(SRD5A2):c.446-10_446-8del rs758063160
NM_000348.4(SRD5A2):c.446-15C>G
NM_000348.4(SRD5A2):c.446-4C>T
NM_000348.4(SRD5A2):c.462T>C (p.Ile154=)
NM_000348.4(SRD5A2):c.468_470del (p.Met157del) rs587776566
NM_000348.4(SRD5A2):c.480C>T (p.Asn160=)
NM_000348.4(SRD5A2):c.485A>C (p.His162Pro) rs1665904910
NM_000348.4(SRD5A2):c.492_493insGA (p.Tyr165fs)
NM_000348.4(SRD5A2):c.504C>T (p.Arg168=)
NM_000348.4(SRD5A2):c.510C>T (p.Leu170=) rs267599352
NM_000348.4(SRD5A2):c.513G>C (p.Arg171Ser)
NM_000348.4(SRD5A2):c.531C>T (p.Ser177=)
NM_000348.4(SRD5A2):c.535A>C (p.Arg179=)
NM_000348.4(SRD5A2):c.537G>A (p.Arg179=) rs767928056
NM_000348.4(SRD5A2):c.544C>T (p.Gln182Ter)
NM_000348.4(SRD5A2):c.547+11C>G
NM_000348.4(SRD5A2):c.547+16C>A
NM_000348.4(SRD5A2):c.547+17C>T
NM_000348.4(SRD5A2):c.547+19C>G
NM_000348.4(SRD5A2):c.547+19C>T
NM_000348.4(SRD5A2):c.547+1G>C
NM_000348.4(SRD5A2):c.548-13C>T rs563086989
NM_000348.4(SRD5A2):c.548-4G>A rs763759170
NM_000348.4(SRD5A2):c.548-5C>G rs753272225
NM_000348.4(SRD5A2):c.548-5C>T
NM_000348.4(SRD5A2):c.548-6A>C
NM_000348.4(SRD5A2):c.548-6A>T
NM_000348.4(SRD5A2):c.548-8G>C
NM_000348.4(SRD5A2):c.54C>T (p.Val18=)
NM_000348.4(SRD5A2):c.561G>A (p.Thr187=)
NM_000348.4(SRD5A2):c.561G>C (p.Thr187=)
NM_000348.4(SRD5A2):c.564del (p.Thr187_Tyr188insTer)
NM_000348.4(SRD5A2):c.571G>A (p.Gly191Arg)
NM_000348.4(SRD5A2):c.574G>A (p.Ala192Thr)
NM_000348.4(SRD5A2):c.586G>C (p.Gly196Arg) rs121434250
NM_000348.4(SRD5A2):c.587G>A (p.Gly196Asp)
NM_000348.4(SRD5A2):c.588T>G (p.Gly196=)
NM_000348.4(SRD5A2):c.602G>A (p.Trp201Ter)
NM_000348.4(SRD5A2):c.614C>A (p.Ala205Asp)
NM_000348.4(SRD5A2):c.615C>T (p.Ala205=)
NM_000348.4(SRD5A2):c.61G>C (p.Gly21Arg) rs1265216982
NM_000348.4(SRD5A2):c.620C>T (p.Ala207Val)
NM_000348.4(SRD5A2):c.621C>T (p.Ala207=)
NM_000348.4(SRD5A2):c.623C>T (p.Thr208Ile) rs759318152
NM_000348.4(SRD5A2):c.630C>T (p.Ser210=)
NM_000348.4(SRD5A2):c.636A>G (p.Pro212=)
NM_000348.4(SRD5A2):c.656del (p.Phe219fs) rs61748127
NM_000348.4(SRD5A2):c.678G>T (p.Leu226=)
NM_000348.4(SRD5A2):c.682G>A (p.Ala228Thr) rs121434249
NM_000348.4(SRD5A2):c.683C>G (p.Ala228Gly)
NM_000348.4(SRD5A2):c.683C>T (p.Ala228Val) rs1553323488
NM_000348.4(SRD5A2):c.687T>C (p.Phe229=)
NM_000348.4(SRD5A2):c.687del (p.His230fs)
NM_000348.4(SRD5A2):c.689A>C (p.His230Pro)
NM_000348.4(SRD5A2):c.698+1G>T
NM_000348.4(SRD5A2):c.698+20C>T
NM_000348.4(SRD5A2):c.698+7T>G
NM_000348.4(SRD5A2):c.699-15T>C
NM_000348.4(SRD5A2):c.699-18T>C
NM_000348.4(SRD5A2):c.699-1G>A
NM_000348.4(SRD5A2):c.699-20A>G
NM_000348.4(SRD5A2):c.699-3T>C
NM_000348.4(SRD5A2):c.705C>T (p.Tyr235=)
NM_000348.4(SRD5A2):c.725A>G (p.Tyr242Cys) rs1553323036
NM_000348.4(SRD5A2):c.729del (p.Lys244fs) rs1553323033
NM_000348.4(SRD5A2):c.72C>G (p.Ala24=)
NM_000348.4(SRD5A2):c.743C>A (p.Ala248Asp)
NM_000348.4(SRD5A2):c.747T>A (p.Leu249=)
NM_000348.4(SRD5A2):c.753del (p.Phe252fs) rs587776567
NM_000348.4(SRD5A2):c.75G>A (p.Leu25=)
NM_000348.4(SRD5A2):c.78C>T (p.Tyr26=)
NM_000348.4(SRD5A2):c.80_87del (p.Val27fs)
NM_000348.4(SRD5A2):c.81C>G (p.Val27=)
NM_000348.4(SRD5A2):c.81C>T (p.Val27=)
NM_000348.4(SRD5A2):c.81_94del (p.Ala28fs) rs1667066366
NM_000348.4(SRD5A2):c.81_94delCGCGAAGCCCTCCG (p.Ala28Leufs)
NM_000348.4(SRD5A2):c.82_88del (p.Ala28fs)
NM_000348.4(SRD5A2):c.84G>A (p.Ala28=)
NM_000348.4(SRD5A2):c.88C>T (p.Pro30Ser)
NM_000348.4(SRD5A2):c.90dup (p.Ser31fs) rs142200057
NM_000348.4(SRD5A2):c.92C>T (p.Ser31Phe)
NM_000348.4(SRD5A2):c.93C>T (p.Ser31=)
NM_000348.4(SRD5A2):c.94G>A (p.Gly32Ser)
NM_000348.4(SRD5A2):c.96C>A (p.Gly32=)
NM_000348.4(SRD5A2):c.99C>T (p.Tyr33=)
NM_000348.4(SRD5A2):c.[169G>T;691C>T]

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