ClinVar Miner

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

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 24
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HGVS dbSNP
NM_000348.3(SRD5A2):c.*1056G>C rs28383085
NM_000348.3(SRD5A2):c.*1133A>G rs886055949
NM_000348.3(SRD5A2):c.*1151_*1152dupTT rs74702388
NM_000348.3(SRD5A2):c.*1152delT rs74702388
NM_000348.3(SRD5A2):c.*1273A>G rs28383086
NM_000348.3(SRD5A2):c.*1290C>G rs549077867
NM_000348.3(SRD5A2):c.*1356A>C rs28383087
NM_000348.3(SRD5A2):c.*1552G>A rs1042578
NM_000348.3(SRD5A2):c.*224A>T rs28383083
NM_000348.3(SRD5A2):c.*286A>G rs886055952
NM_000348.3(SRD5A2):c.*614T>A rs886055951
NM_000348.3(SRD5A2):c.*686G>T rs886055950
NM_000348.3(SRD5A2):c.*849A>G rs9332975
NM_000348.3(SRD5A2):c.*88T>A rs370989010
NM_000348.3(SRD5A2):c.*88_*91delTCCCinsACCTATATATATATATATATATAT rs886055954
NM_000348.3(SRD5A2):c.*90_*91delCCinsATATATATATATATATATATATATATATATATATAT rs886055953
NM_000348.3(SRD5A2):c.*90_*91delCCinsATATATATATATATATATATATATATATATATATATAT rs886055953
NM_000348.3(SRD5A2):c.*91C>T rs192604242
NM_000348.3(SRD5A2):c.-55G>A rs577957973
NM_000348.3(SRD5A2):c.-62G>C rs632148
NM_000348.3(SRD5A2):c.-64A>G rs886055956
NM_000348.3(SRD5A2):c.230G>A (p.Gly77Glu) rs886055955
NM_000348.3(SRD5A2):c.264C>G (p.Cys88Trp) rs867198056
NM_000348.3(SRD5A2):c.89dupC (p.Ser31Leufs) rs142200057

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