ClinVar Miner

List of variants in gene DHH reported as pathogenic for 46,XY complete gonadal dysgenesis

Included ClinVar conditions (18):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 11
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_021044.4(DHH):c.485T>C (p.Leu162Pro) rs111033589 0.00001
NM_021044.4(DHH):c.1004T>C (p.Leu335Pro) rs2120821285
NM_021044.4(DHH):c.1011del (p.Asn337fs) rs1565572949
NM_021044.4(DHH):c.1086del (p.Leu363fs) rs1592184934
NM_021044.4(DHH):c.2T>C (p.Met1Thr) rs104894346
NM_021044.4(DHH):c.304-572_492dup
NM_021044.4(DHH):c.371G>A (p.Arg124Gln) rs1565573892
NM_021044.4(DHH):c.519G>T (p.Trp173Cys) rs1939296210
NM_021044.4(DHH):c.528C>A (p.Tyr176Ter) rs1565573786
NM_021044.4(DHH):c.528C>G (p.Tyr176Ter) rs1565573786
NM_021044.4(DHH):c.554C>A (p.Ser185Ter) rs1939295073

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.