ClinVar Miner

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

Included ClinVar conditions (13):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 45
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HGVS dbSNP
NM_000102.4(CYP17A1):c.-34T>C rs743572
NM_000102.4(CYP17A1):c.138C>T (p.His46=) rs6162
NM_000102.4(CYP17A1):c.195G>T (p.Ser65=) rs6163
NM_000197.2(HSD17B3):c.-10G>C rs2066484
NM_000197.2(HSD17B3):c.-29A>G rs2066476
NM_000197.2(HSD17B3):c.-39A>G rs2066474
NM_000197.2(HSD17B3):c.195G>A (p.Ser65=) rs2066478
NM_000197.2(HSD17B3):c.804C>T (p.Cys268=) rs8190555
NM_000197.2(HSD17B3):c.865G>A (p.Gly289Ser) rs2066479
NM_000197.2(HSD17B3):c.91G>A (p.Val31Ile) rs2066480
NM_000198.4(HSD3B2):c.*202A>G rs9282704
NM_000198.4(HSD3B2):c.*276C>T rs1819698
NM_000198.4(HSD3B2):c.*321C>G rs1361530
NM_000198.4(HSD3B2):c.*96C>G rs9282703
NM_000198.4(HSD3B2):c.220G>A (p.Asp74Asn) rs4986954
NM_000198.4(HSD3B2):c.777G>A (p.Thr259=) rs33926546
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.*372G>A
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.264C>G (p.Cys88Trp) rs867198056
NM_000348.4(SRD5A2):c.90dup (p.Ser31fs) rs142200057
NM_000349.3(STAR):c.*1524A>G rs3990403
NM_000349.3(STAR):c.*987A>G rs28361934
NM_000349.3(STAR):c.153G>A (p.Gln51=) rs72552290
NM_000781.3(CYP11A1):c.1091A>G (p.Gln364Arg) rs57982762
NM_000781.3(CYP11A1):c.535G>A (p.Val179Ile) rs58174009
NM_000781.3(CYP11A1):c.939C>T (p.Phe313=) rs4986873
NM_000941.2(POR):c.-47A>C rs3823884
NM_000941.3(POR):c.*306G>A rs17685
NM_000941.3(POR):c.1067-13C>G rs4732516
NM_000941.3(POR):c.1248+12C>T rs2286822
NM_000941.3(POR):c.1455T>C (p.Ala485=) rs2228104
NM_000941.3(POR):c.1508C>T (p.Ala503Val) rs1057868
NM_000941.3(POR):c.15A>G (p.Gly5=) rs10262966
NM_000941.3(POR):c.1716G>A (p.Ser572=) rs1057870
NM_000941.3(POR):c.387A>G (p.Pro129=) rs1135612

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