ClinVar Miner

List of variants reported as likely benign for 46,XX disorder of sex development by Illumina Clinical Services Laboratory,Illumina

Included ClinVar conditions (32):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 37
Download table as spreadsheet
HGVS dbSNP
NM_000103.4(CYP19A1):c.*1296T>C rs28757212
NM_000103.4(CYP19A1):c.*2039G>T rs35636804
NM_000103.4(CYP19A1):c.*2511G>A rs934633
NM_000103.4(CYP19A1):c.*280A>T rs77828415
NM_000103.4(CYP19A1):c.-39+14659C>A rs28757082
NM_000103.4(CYP19A1):c.115T>C (p.Trp39Arg) rs2236722
NM_000103.4(CYP19A1):c.186C>T (p.His62=) rs60308277
NM_000103.4(CYP19A1):c.602C>T (p.Thr201Met) rs28757184
NM_000103.4(CYP19A1):c.790C>T (p.Arg264Cys) rs700519
NM_000176.3(NR3C1):c.*2042C>T rs13306586
NM_000176.3(NR3C1):c.*2188A>G rs6193
NM_000176.3(NR3C1):c.*290A>C rs72542758
NM_000176.3(NR3C1):c.*3076C>T rs72542769
NM_000176.3(NR3C1):c.*3153C>T rs2301177
NM_000176.3(NR3C1):c.*3298G>T rs6191
NM_000176.3(NR3C1):c.*3550G>A rs10482714
NM_000176.3(NR3C1):c.*3833A>G rs6198
NM_000176.3(NR3C1):c.1088A>G (p.Asn363Ser) rs56149945
NM_000176.3(NR3C1):c.1242A>G (p.Thr414=) rs67902340
NM_000176.3(NR3C1):c.1764C>T (p.His588=) rs6194
NM_000176.3(NR3C1):c.2034C>T (p.Asp678=) rs258751
NM_000176.3(NR3C1):c.2182-9C>G rs72542757
NM_000176.3(NR3C1):c.2250C>T (p.Pro750=) rs67300719
NM_000176.3(NR3C1):c.2298T>C (p.Asn766=) rs6196
NM_000176.3(NR3C1):c.66G>A (p.Glu22=) rs6189
NM_000176.3(NR3C1):c.68G>A (p.Arg23Lys) rs6190
NM_000176.3(NR3C1):c.879G>A (p.Lys293=) rs10482622
NM_000176.3(NR3C1):c.897A>G (p.Thr299=) rs13306588
NM_000414.4(HSD17B4):c.*260A>G rs28943596
NM_000414.4(HSD17B4):c.1767+8T>C rs190659146
NM_000414.4(HSD17B4):c.1791C>T (p.Val597=) rs2560722
NM_000414.4(HSD17B4):c.2060C>T (p.Thr687Ile) rs28943592
NM_000414.4(HSD17B4):c.2182A>G (p.Met728Val) rs28943594
NM_000414.4(HSD17B4):c.2199C>T (p.Tyr733=) rs12714
NM_000414.4(HSD17B4):c.420A>T (p.Lys140Asn) rs28943589
NM_000414.4(HSD17B4):c.875C>G (p.Thr292Ser) rs1143650
NM_001018077.1(NR3C1):c.*1220_*1225dup rs72542761

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.