ClinVar Miner

List of variants reported as likely benign for 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency

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ClinVar version:
Total variants: 99
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HGVS dbSNP gnomAD frequency
NM_000348.4(SRD5A2):c.*1356A>C rs28383087 0.00919
NM_000348.4(SRD5A2):c.*981G>A rs191186592 0.00429
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 0.00014
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.111G>A (p.Thr37=) rs781961035 0.00003
NM_000348.4(SRD5A2):c.585C>T (p.Leu195=) rs61750399 0.00002
NM_000348.4(SRD5A2):c.183C>T (p.Phe61=) rs61750385 0.00001
NM_000348.4(SRD5A2):c.281+11T>C rs774959761 0.00001
NM_000348.4(SRD5A2):c.111G>C (p.Thr37=)
NM_000348.4(SRD5A2):c.132T>A (p.Ala44=)
NM_000348.4(SRD5A2):c.139C>T (p.Leu47=)
NM_000348.4(SRD5A2):c.147C>T (p.Ala49=)
NM_000348.4(SRD5A2):c.153C>T (p.Ala51=)
NM_000348.4(SRD5A2):c.15C>T (p.Cys5=)
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.21G>A (p.Gln7=) rs2148107447
NM_000348.4(SRD5A2):c.228C>T (p.Phe76=)
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.264_265delinsTG (p.Leu89Val)
NM_000348.4(SRD5A2):c.270T>C (p.His90=)
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.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.303C>T (p.Leu101=)
NM_000348.4(SRD5A2):c.307C>A (p.Arg103=)
NM_000348.4(SRD5A2):c.312G>A (p.Gly104=)
NM_000348.4(SRD5A2):c.318T>C (p.Pro106=)
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.39C>A (p.Gly13=)
NM_000348.4(SRD5A2):c.402T>C (p.Ala134=)
NM_000348.4(SRD5A2):c.408C>T (p.Tyr136=)
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.480C>T (p.Asn160=)
NM_000348.4(SRD5A2):c.504C>T (p.Arg168=)
NM_000348.4(SRD5A2):c.510C>T (p.Leu170=) rs267599352
NM_000348.4(SRD5A2):c.531C>T (p.Ser177=)
NM_000348.4(SRD5A2):c.535A>C (p.Arg179=)
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.548-4G>A rs763759170
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.588T>G (p.Gly196=)
NM_000348.4(SRD5A2):c.615C>T (p.Ala205=)
NM_000348.4(SRD5A2):c.621C>T (p.Ala207=)
NM_000348.4(SRD5A2):c.630C>T (p.Ser210=)
NM_000348.4(SRD5A2):c.636A>G (p.Pro212=)
NM_000348.4(SRD5A2):c.678G>T (p.Leu226=)
NM_000348.4(SRD5A2):c.687T>C (p.Phe229=)
NM_000348.4(SRD5A2):c.698+20C>T
NM_000348.4(SRD5A2):c.699-15T>C
NM_000348.4(SRD5A2):c.699-18T>C
NM_000348.4(SRD5A2):c.699-20A>G
NM_000348.4(SRD5A2):c.705C>T (p.Tyr235=)
NM_000348.4(SRD5A2):c.72C>G (p.Ala24=)
NM_000348.4(SRD5A2):c.747T>A (p.Leu249=)
NM_000348.4(SRD5A2):c.75G>A (p.Leu25=)
NM_000348.4(SRD5A2):c.78C>T (p.Tyr26=)
NM_000348.4(SRD5A2):c.81C>G (p.Val27=)
NM_000348.4(SRD5A2):c.81C>T (p.Val27=)
NM_000348.4(SRD5A2):c.84G>A (p.Ala28=)
NM_000348.4(SRD5A2):c.93C>T (p.Ser31=)
NM_000348.4(SRD5A2):c.96C>A (p.Gly32=)
NM_000348.4(SRD5A2):c.99C>T (p.Tyr33=)

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