ClinVar Miner

List of variants in gene SRD5A2 reported as benign for 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 16
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NM_000348.3(SRD5A2):c.-55G>A rs577957973
NM_000348.3(SRD5A2):c.-62G>C rs632148
NM_000348.4(SRD5A2):c.*1056G>C rs28383085
NM_000348.4(SRD5A2):c.*1273A>G rs28383086
NM_000348.4(SRD5A2):c.*1552G>A rs1042578
NM_000348.4(SRD5A2):c.*224A>T rs28383083
NM_000348.4(SRD5A2):c.*259T>C rs61750400
NM_000348.4(SRD5A2):c.*43G>A rs28383082
NM_000348.4(SRD5A2):c.*849A>G rs9332975
NM_000348.4(SRD5A2):c.*88T>A rs370989010
NM_000348.4(SRD5A2):c.*91C>T rs192604242
NM_000348.4(SRD5A2):c.145G>A (p.Ala49Thr) rs9282858
NM_000348.4(SRD5A2):c.264C>G (p.Cys88Trp) rs867198056
NM_000348.4(SRD5A2):c.594C>T (p.Ile198=) rs28383064
NM_000348.4(SRD5A2):c.90dup (p.Ser31fs) rs142200057

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