ClinVar Miner

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

Included ClinVar conditions (1):
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ClinVar version:
Total variants: 80
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HGVS dbSNP
GRCh37/hg19 2p23.1(chr2:31758677-31805700)
NC_000002.11:g.(?_31756421)_(31756562_?)del
NC_000002.11:g.31757164_31770106del12943insCA
NC_000002.12:g.(?_31524586)_(31580971_?)del
NM_000348.3(SRD5A2):c.-55G>A rs577957973
NM_000348.3(SRD5A2):c.-62G>C rs632148
NM_000348.3(SRD5A2):c.-64A>G rs886055956
NM_000348.3(SRD5A2):c.446-10_446-8delCTT rs758063160
NM_000348.3(SRD5A2):c.[548-9T>G];[680G>A]
NM_000348.3(SRD5A2):c.[680G>A];[694C>G]
NM_000348.4(SRD5A2):c.*1056G>C rs28383085
NM_000348.4(SRD5A2):c.*1133A>G rs886055949
NM_000348.4(SRD5A2):c.*1151_*1152dup rs74702388
NM_000348.4(SRD5A2):c.*1152del rs74702388
NM_000348.4(SRD5A2):c.*1273A>G rs28383086
NM_000348.4(SRD5A2):c.*1290C>G rs549077867
NM_000348.4(SRD5A2):c.*1356A>C rs28383087
NM_000348.4(SRD5A2):c.*1552G>A rs1042578
NM_000348.4(SRD5A2):c.*224A>T rs28383083
NM_000348.4(SRD5A2):c.*286A>G rs886055952
NM_000348.4(SRD5A2):c.*43G>A rs28383082
NM_000348.4(SRD5A2):c.*614T>A rs886055951
NM_000348.4(SRD5A2):c.*686G>T rs886055950
NM_000348.4(SRD5A2):c.*849A>G rs9332975
NM_000348.4(SRD5A2):c.*88T>A rs370989010
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.*91C>T rs192604242
NM_000348.4(SRD5A2):c.143C>T (p.Pro48Leu)
NM_000348.4(SRD5A2):c.145G>A (p.Ala49Thr) rs9282858
NM_000348.4(SRD5A2):c.164T>A (p.Leu55Gln) rs121434245
NM_000348.4(SRD5A2):c.169G>C (p.Glu57Gln) rs750444774
NM_000348.4(SRD5A2):c.16C>T (p.Gln6Ter) rs9332960
NM_000348.4(SRD5A2):c.205G>T (p.Ala69Ser) rs1553329443
NM_000348.4(SRD5A2):c.211C>T (p.Gln71Ter) rs1060499834
NM_000348.4(SRD5A2):c.218del (p.Leu73fs) rs1553329427
NM_000348.4(SRD5A2):c.230G>A (p.Gly77Glu) rs886055955
NM_000348.4(SRD5A2):c.264C>G (p.Cys88Trp) rs867198056
NM_000348.4(SRD5A2):c.271T>C (p.Tyr91His) rs201175894
NM_000348.4(SRD5A2):c.271T>G (p.Tyr91Asp) rs201175894
NM_000348.4(SRD5A2):c.282-2A>G rs1340425455
NM_000348.4(SRD5A2):c.307C>T (p.Arg103Ter) rs267599353
NM_000348.4(SRD5A2):c.337C>G (p.Leu113Val) rs28383048
NM_000348.4(SRD5A2):c.344G>A (p.Gly115Asp) rs121434246
NM_000348.4(SRD5A2):c.358A>C (p.Thr120Pro)
NM_000348.4(SRD5A2):c.377A>G (p.Gln126Arg) rs368386747
NM_000348.4(SRD5A2):c.385T>G (p.Tyr129Asp) rs1553324169
NM_000348.4(SRD5A2):c.468_470del (p.Met157del) rs587776566
NM_000348.4(SRD5A2):c.534C>A (p.Tyr178Ter) rs1200261940
NM_000348.4(SRD5A2):c.537G>A (p.Arg179=) rs767928056
NM_000348.4(SRD5A2):c.547G>A (p.Gly183Ser) rs121434247
NM_000348.4(SRD5A2):c.548-2A>C rs61750397
NM_000348.4(SRD5A2):c.548-5C>G rs753272225
NM_000348.4(SRD5A2):c.548-9T>G rs1057519061
NM_000348.4(SRD5A2):c.554T>C (p.Leu185Ser) rs574377752
NM_000348.4(SRD5A2):c.578A>G (p.Asn193Ser) rs763296857
NM_000348.4(SRD5A2):c.586G>A (p.Gly196Ser) rs121434250
NM_000348.4(SRD5A2):c.586G>C (p.Gly196Arg) rs121434250
NM_000348.4(SRD5A2):c.591G>T (p.Glu197Asp) rs121434253
NM_000348.4(SRD5A2):c.594C>T (p.Ile198=) rs28383064
NM_000348.4(SRD5A2):c.598G>A (p.Glu200Lys) rs756853742
NM_000348.4(SRD5A2):c.59T>C (p.Leu20Pro) rs761824859
NM_000348.4(SRD5A2):c.607G>A (p.Gly203Ser) rs9332961
NM_000348.4(SRD5A2):c.620C>A (p.Ala207Asp) rs767564684
NM_000348.4(SRD5A2):c.623C>T (p.Thr208Ile) rs759318152
NM_000348.4(SRD5A2):c.635C>G (p.Pro212Arg) rs121434252
NM_000348.4(SRD5A2):c.679C>T (p.Arg227Ter) rs121434248
NM_000348.4(SRD5A2):c.680G>A (p.Arg227Gln) rs9332964
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.692A>G (p.His231Arg) rs121434251
NM_000348.4(SRD5A2):c.695A>G (p.His232Arg) rs748899308
NM_000348.4(SRD5A2):c.704A>T (p.Tyr235Phe) rs772283403
NM_000348.4(SRD5A2):c.725A>G (p.Tyr242Cys) rs1553323036
NM_000348.4(SRD5A2):c.729del (p.Lys244fs) rs1553323033
NM_000348.4(SRD5A2):c.736C>T (p.Arg246Trp) rs121434244
NM_000348.4(SRD5A2):c.737G>A (p.Arg246Gln) rs9332967
NM_000348.4(SRD5A2):c.753del (p.Phe252fs) rs587776567
NM_000348.4(SRD5A2):c.90dup (p.Ser31fs) rs142200057

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