ClinVar Miner

List of variants reported as uncertain significance for 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency

Included ClinVar conditions (1):
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Total variants: 55
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HGVS dbSNP gnomAD frequency
NM_000348.4(SRD5A2):c.*43G>A rs28383082 0.00951
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.*119C>T rs187924868 0.00051
NM_000348.4(SRD5A2):c.586G>A (p.Gly196Ser) rs121434250 0.00015
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.331C>A (p.Leu111Ile) rs200206626 0.00005
NM_000348.4(SRD5A2):c.537G>T (p.Arg179Ser) rs767928056 0.00004
NM_000348.4(SRD5A2):c.-20C>T rs769873996 0.00003
NM_000348.4(SRD5A2):c.143C>T (p.Pro48Leu) rs61748122 0.00003
NM_000348.4(SRD5A2):c.*392A>C rs1194956705 0.00002
NM_000348.4(SRD5A2):c.548-9T>G rs1057519061 0.00002
NM_000348.4(SRD5A2):c.598G>A (p.Glu200Lys) rs756853742 0.00002
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.554T>C (p.Leu185Ser) rs574377752 0.00001
NC_000002.11:g.(?_31598226)_(31805969_?)dup
NC_000002.11:g.(?_31751246)_(31805989_?)dup
NC_000002.11:g.(?_31805670)_(31805969_?)dup
NM_000348.3(SRD5A2):c.-64A>G rs886055956
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.230G>A (p.Gly77Glu) rs886055955
NM_000348.4(SRD5A2):c.25C>T (p.Pro9Ser) rs868322910
NM_000348.4(SRD5A2):c.282-2A>G rs1340425455
NM_000348.4(SRD5A2):c.284C>T (p.Thr95Ile)
NM_000348.4(SRD5A2):c.382T>A (p.Tyr128Asn)
NM_000348.4(SRD5A2):c.385T>G (p.Tyr129Asp) rs1553324169
NM_000348.4(SRD5A2):c.403G>A (p.Glu135Lys)
NM_000348.4(SRD5A2):c.446-10_446-8del rs758063160
NM_000348.4(SRD5A2):c.537G>A (p.Arg179=) rs767928056
NM_000348.4(SRD5A2):c.548-5C>G rs753272225
NM_000348.4(SRD5A2):c.571G>A (p.Gly191Arg)
NM_000348.4(SRD5A2):c.614C>A (p.Ala205Asp)
NM_000348.4(SRD5A2):c.61G>C (p.Gly21Arg) rs1265216982
NM_000348.4(SRD5A2):c.620C>T (p.Ala207Val)
NM_000348.4(SRD5A2):c.678G>T (p.Leu226=)
NM_000348.4(SRD5A2):c.699-3T>C
NM_000348.4(SRD5A2):c.88C>T (p.Pro30Ser)

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