ClinVar Miner

List of variants in gene SRD5A3 reported as likely benign

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Total variants: 63
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HGVS dbSNP gnomAD frequency
NM_024592.5(SRD5A3):c.*275G>T rs145768388 0.02343
NM_024592.5(SRD5A3):c.925C>G (p.His309Asp) rs61733673 0.01384
NM_024592.5(SRD5A3):c.221+168C>G rs181735394 0.01299
NM_024592.5(SRD5A3):c.221+148C>T rs147715790 0.00981
NM_024592.5(SRD5A3):c.*2984A>G rs73816266 0.00796
NC_000004.12:g.55346081T>C rs114379639 0.00726
NM_024592.5(SRD5A3):c.364+142A>G rs146291918 0.00571
NM_024592.5(SRD5A3):c.563-331T>C rs80055415 0.00540
NM_024592.5(SRD5A3):c.221+274C>T rs141049911 0.00509
NM_024592.5(SRD5A3):c.698-96A>G rs368598878 0.00380
NM_024592.5(SRD5A3):c.698-237G>T rs1969380 0.00111
NM_024592.5(SRD5A3):c.110C>T (p.Pro37Leu) rs199975696 0.00103
NM_024592.5(SRD5A3):c.566A>C (p.Tyr189Ser) rs35496669 0.00101
NM_024592.5(SRD5A3):c.*621C>T rs548604752 0.00096
NM_024592.5(SRD5A3):c.364+19T>C rs201315974 0.00075
NM_024592.5(SRD5A3):c.672C>T (p.Leu224=) rs144834899 0.00070
NM_024592.5(SRD5A3):c.51G>T (p.Ala17=) rs201123766 0.00032
NM_024592.5(SRD5A3):c.698-8C>T rs369712923 0.00019
NM_024592.5(SRD5A3):c.43C>T (p.Leu15=) rs376944136 0.00017
NM_024592.5(SRD5A3):c.-6C>T rs771229701 0.00015
NM_024592.5(SRD5A3):c.365-15C>T rs369112025 0.00015
NM_024592.5(SRD5A3):c.123G>A (p.Pro41=) rs760463357 0.00006
NM_024592.5(SRD5A3):c.627G>A (p.Met209Ile) rs567897048 0.00005
NM_024592.5(SRD5A3):c.720C>T (p.His240=) rs760207799 0.00005
NM_024592.5(SRD5A3):c.345C>T (p.Leu115=) rs562923214 0.00003
NM_024592.5(SRD5A3):c.586T>C (p.Leu196=) rs372213531 0.00003
NM_024592.5(SRD5A3):c.697+13T>C rs188189862 0.00003
NM_024592.5(SRD5A3):c.171T>C (p.Cys57=) rs752026983 0.00002
NM_024592.5(SRD5A3):c.365-19G>C rs376721684 0.00002
NM_024592.5(SRD5A3):c.423A>G (p.Leu141=) rs143299030 0.00002
NM_024592.5(SRD5A3):c.444C>T (p.Leu148=) rs201424796 0.00002
NM_024592.5(SRD5A3):c.673G>A (p.Gly225Ser) rs748408459 0.00002
NM_024592.5(SRD5A3):c.*6C>T rs1057522899 0.00001
NM_024592.5(SRD5A3):c.114C>T (p.Gly38=) rs1718998323 0.00001
NM_024592.5(SRD5A3):c.144C>T (p.Asp48=) rs993981563 0.00001
NM_024592.5(SRD5A3):c.221+10C>T rs777676728 0.00001
NM_024592.5(SRD5A3):c.222-20C>T rs762367949 0.00001
NM_024592.5(SRD5A3):c.351G>A (p.Ala117=) rs200677326 0.00001
NM_024592.5(SRD5A3):c.364+18T>A rs920010100 0.00001
NM_024592.5(SRD5A3):c.435C>T (p.Phe145=) rs778699044 0.00001
NM_024592.5(SRD5A3):c.480C>T (p.Val160=) rs797046008 0.00001
NM_024592.5(SRD5A3):c.63G>A (p.Thr21=) rs1348416188 0.00001
NM_024592.5(SRD5A3):c.789C>T (p.Tyr263=) rs753171421 0.00001
NM_024592.5(SRD5A3):c.837A>G (p.Leu279=) rs771882471 0.00001
NM_024592.5(SRD5A3):c.*311ACCGAAAA[1] rs375142797
NM_024592.5(SRD5A3):c.221+13C>T rs545766107
NM_024592.5(SRD5A3):c.221+7G>A rs2545437438
NM_024592.5(SRD5A3):c.222-19G>A
NM_024592.5(SRD5A3):c.222-19G>C rs371783653
NM_024592.5(SRD5A3):c.243C>T (p.Ile81=) rs2545451336
NM_024592.5(SRD5A3):c.324T>A (p.Leu108=)
NM_024592.5(SRD5A3):c.364+202G>T rs139640097
NM_024592.5(SRD5A3):c.364+28G>T rs190014668
NM_024592.5(SRD5A3):c.365-6T>C rs1057522282
NM_024592.5(SRD5A3):c.447C>T (p.Tyr149=) rs904639792
NM_024592.5(SRD5A3):c.468C>T (p.Val156=)
NM_024592.5(SRD5A3):c.547A>T (p.Met183Leu) rs201283909
NM_024592.5(SRD5A3):c.563-16A>C rs756764294
NM_024592.5(SRD5A3):c.585A>G (p.Leu195=)
NM_024592.5(SRD5A3):c.682A>C (p.Arg228=) rs769679976
NM_024592.5(SRD5A3):c.918C>T (p.Tyr306=) rs1720063324
NM_024592.5(SRD5A3):c.927T>C (p.His309=) rs757565408
NM_024592.5(SRD5A3):c.942A>G (p.Leu314=) rs1488770806

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