ClinVar Miner

List of variants reported as not provided for not provided by University of Sydney Medical Foundation

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Total variants: 42
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HGVS dbSNP gnomAD frequency
NM_000348.4(SRD5A2):c.265C>G (p.Leu89Val) rs523349 0.71022
NM_000348.3(SRD5A2):c.-62G>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.145G>A (p.Ala49Thr) rs9282858 0.02117
NM_000348.4(SRD5A2):c.*1356A>C rs28383087 0.00919
NM_000348.4(SRD5A2):c.*259T>C rs61750400 0.00652
NM_000348.4(SRD5A2):c.210G>A (p.Arg70=) rs61750388 0.00054
NM_000348.4(SRD5A2):c.696T>C (p.His232=) rs9332965 0.00018
NM_000348.4(SRD5A2):c.680G>A (p.Arg227Gln) rs9332964 0.00016
NM_000348.4(SRD5A2):c.702C>G (p.Phe234Leu) rs9332966 0.00014
NM_000348.4(SRD5A2):c.281+20G>A rs61750392 0.00012
NM_000348.4(SRD5A2):c.151G>A (p.Ala51Thr) rs61748123 0.00010
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.*821A>T rs61750401 0.00006
NM_000348.3(SRD5A2):c.-383G>A rs61748130 0.00005
NM_000348.4(SRD5A2):c.548-2A>C rs61750397 0.00003
NM_000348.4(SRD5A2):c.560C>T (p.Thr187Met) rs61748125 0.00002
NM_000348.4(SRD5A2):c.585C>T (p.Leu195=) rs61750399 0.00002
NM_000348.4(SRD5A2):c.*1843A>G rs61750402 0.00001
NM_000348.4(SRD5A2):c.183C>T (p.Phe61=) rs61750385 0.00001
NM_000348.4(SRD5A2):c.209G>A (p.Arg70Gln) rs61750387 0.00001
NM_000348.4(SRD5A2):c.281+13C>G rs61750391 0.00001
NM_000348.3(SRD5A2):c.-215C>A rs61748131
NM_000348.3(SRD5A2):c.-648A>T rs61748129
NM_000348.3(SRD5A2):c.-650A>C rs61748128
NM_000348.4(SRD5A2):c.-2C>A rs61748132
NM_000348.4(SRD5A2):c.13T>C (p.Cys5Arg) rs61748120
NM_000348.4(SRD5A2):c.143C>G (p.Pro48Arg) rs61748122
NM_000348.4(SRD5A2):c.207C>T (p.Ala69=) rs61750386
NM_000348.4(SRD5A2):c.214C>T (p.Pro72Ser) rs61748124
NM_000348.4(SRD5A2):c.258C>G (p.Leu86=) rs61750389
NM_000348.4(SRD5A2):c.281+23G>T rs61750393
NM_000348.4(SRD5A2):c.281+37A>C rs61750394
NM_000348.4(SRD5A2):c.445+8A>C rs61750395
NM_000348.4(SRD5A2):c.446-43A>T rs61750396
NM_000348.4(SRD5A2):c.550G>C (p.Gly184Arg) rs61750398
NM_000348.4(SRD5A2):c.582C>G (p.Phe194Leu) rs61748126
NM_000348.4(SRD5A2):c.656del (p.Phe219fs) rs61748127
NM_000348.4(SRD5A2):c.89_90insT (p.Ser31fs) rs1553329489

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