ClinVar Miner

List of variants reported as benign for 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency by Illumina Laboratory Services, Illumina

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 14
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HGVS dbSNP gnomAD frequency
NM_000348.3(SRD5A2):c.-62G>C rs632148 0.68927
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.*88T>A rs370989010 0.09406
NM_000348.4(SRD5A2):c.*91C>T rs192604242 0.08542
NM_000348.4(SRD5A2):c.*1056G>C rs28383085 0.04363
NM_000348.4(SRD5A2):c.*43G>A rs28383082 0.00951
NM_000348.4(SRD5A2):c.*1273A>G rs28383086 0.00863
NM_000348.4(SRD5A2):c.*224A>T rs28383083 0.00862
NM_000348.4(SRD5A2):c.*259T>C rs61750400 0.00652
NM_000348.4(SRD5A2):c.*372G>A rs147184986 0.00370
NM_000348.3(SRD5A2):c.-55G>A rs577957973 0.00001
NM_000348.4(SRD5A2):c.264C>G (p.Cys88Trp) rs867198056
NM_000348.4(SRD5A2):c.90dup (p.Ser31fs) rs142200057

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