ClinVar Miner

List of variants studied for 46,XY disorder of sex development of gynecological interest by Illumina Clinical Services Laboratory,Illumina

Included ClinVar conditions (14):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 46
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HGVS dbSNP
NM_000102.4(CYP17A1):c.1435_1438dup (p.Pro480fs) rs556794126
NM_000102.4(CYP17A1):c.1459_1467del (p.Asp487_Phe489del) rs756135168
NM_000197.2(HSD17B3):c.238C>T (p.Arg80Trp) rs119481077
NM_000197.2(HSD17B3):c.277+4A>T rs201115371
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_000348.4(SRD5A2):c.*1056G>C rs28383085
NM_000348.4(SRD5A2):c.*1133A>G rs886055949
NM_000348.4(SRD5A2):c.*1151_*1152dup rs74702388
NM_000348.4(SRD5A2):c.*1152del rs74702388
NM_000348.4(SRD5A2):c.*1273A>G rs28383086
NM_000348.4(SRD5A2):c.*1290C>G rs549077867
NM_000348.4(SRD5A2):c.*1356A>C rs28383087
NM_000348.4(SRD5A2):c.*1552G>A rs1042578
NM_000348.4(SRD5A2):c.*224A>T rs28383083
NM_000348.4(SRD5A2):c.*286A>G rs886055952
NM_000348.4(SRD5A2):c.*614T>A rs886055951
NM_000348.4(SRD5A2):c.*686G>T rs886055950
NM_000348.4(SRD5A2):c.*849A>G rs9332975
NM_000348.4(SRD5A2):c.*88T>A rs370989010
NM_000348.4(SRD5A2):c.*88_*91delinsACCTATATATATATATATATATAT rs886055954
NM_000348.4(SRD5A2):c.*90_*91delinsATATATATATATATATATATATATATATATATATAT rs886055953
NM_000348.4(SRD5A2):c.*90_*91delinsATATATATATATATATATATATATATATATATATATAT rs886055953
NM_000348.4(SRD5A2):c.*91C>T rs192604242
NM_000348.4(SRD5A2):c.230G>A (p.Gly77Glu) rs886055955
NM_000348.4(SRD5A2):c.264C>G (p.Cys88Trp) rs867198056
NM_000348.4(SRD5A2):c.90dup (p.Ser31fs) rs142200057
NM_000349.3(STAR):c.125dup (p.Thr44fs) rs750549499
NM_000781.3(CYP11A1):c.-35A>G rs886051481
NM_000781.3(CYP11A1):c.-59A>G rs567971184
NM_000781.3(CYP11A1):c.1099A>T (p.Met367Leu) rs764270391
NM_000781.3(CYP11A1):c.1164C>T (p.His388=) rs537187397
NM_000781.3(CYP11A1):c.1201G>A (p.Asp401Asn) rs886051479
NM_000781.3(CYP11A1):c.235G>A (p.Val79Ile) rs143655263
NM_000781.3(CYP11A1):c.269+4A>G rs199573967
NM_000781.3(CYP11A1):c.366C>T (p.Leu122=) rs530494910
NM_000781.3(CYP11A1):c.508_509del (p.Leu170fs) rs1567053134
NM_000781.3(CYP11A1):c.567G>A (p.Ala189=) rs770022852
NM_000781.3(CYP11A1):c.589G>C (p.Asp197His) rs886051480
NM_000781.3(CYP11A1):c.830-14C>G rs190239248
NM_000781.3(CYP11A1):c.86G>A (p.Arg29His) rs150725205
NM_000781.3(CYP11A1):c.939C>T (p.Phe313=) rs4986873
NM_000781.3(CYP11A1):c.93G>A (p.Arg31=) rs141127674
NM_000941.3(POR):c.1363del (p.Gln455fs) rs781805159
NM_000941.3(POR):c.1660C>T (p.Arg554Ter) rs782336856

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