ClinVar Miner

List of variants in gene combination CYP19A1, MIR4713HG, PIRC66 reported as uncertain significance for 46,XX disorder of sex development

Included ClinVar conditions (32):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 26
Download table as spreadsheet
HGVS dbSNP
NM_000103.4(CYP19A1):c.*1019C>T rs886051274
NM_000103.4(CYP19A1):c.*1069C>T rs527275486
NM_000103.4(CYP19A1):c.*108A>G rs28757207
NM_000103.4(CYP19A1):c.*1608C>T rs781782351
NM_000103.4(CYP19A1):c.*166T>A rs181721810
NM_000103.4(CYP19A1):c.*1877T>G rs886051273
NM_000103.4(CYP19A1):c.*191C>A rs190403648
NM_000103.4(CYP19A1):c.*191del rs546415613
NM_000103.4(CYP19A1):c.*2032G>A rs886051272
NM_000103.4(CYP19A1):c.*2155T>C rs865821138
NM_000103.4(CYP19A1):c.*2192T>C rs886051271
NM_000103.4(CYP19A1):c.*2257A>G rs540900346
NM_000103.4(CYP19A1):c.*2274A>G rs886051270
NM_000103.4(CYP19A1):c.*2645dup rs886051269
NM_000103.4(CYP19A1):c.*460G>C rs28757208
NM_000103.4(CYP19A1):c.*483G>C rs886051276
NM_000103.4(CYP19A1):c.*638G>T rs886051275
NM_000103.4(CYP19A1):c.*747G>A rs866111735
NM_000103.4(CYP19A1):c.*858C>T rs555261840
NM_000103.4(CYP19A1):c.*9G>T rs373757519
NM_000103.4(CYP19A1):c.1378G>A (p.Val460Met) rs372500474
NM_000103.4(CYP19A1):c.49G>A (p.Val17Met) rs200111039
NM_000103.4(CYP19A1):c.629-10T>C rs781489846
NM_000103.4(CYP19A1):c.629-16dup rs750758078
NM_000103.4(CYP19A1):c.953T>C (p.Met318Thr) rs143839949
NM_000103.4(CYP19A1):c.976C>T (p.Pro326Ser) rs368902124

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.