ClinVar Miner

List of variants in gene SRD5A3 reported as likely pathogenic by University of Washington Center for Mendelian Genomics, University of Washington

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_024592.5(SRD5A3):c.562+3del rs752307253 0.00001
NM_024592.5(SRD5A3):c.57G>A (p.Trp19Ter) rs398124401 0.00001
NM_024592.5(SRD5A3):c.603G>A (p.Trp201Ter) rs765191836 0.00001
NM_024592.5(SRD5A3):c.921G>C (p.Pro307=) rs763516132

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