ClinVar Miner

List of variants in gene DHH reported as uncertain significance for 46,XY sex reversal 7

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 38
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_021044.4(DHH):c.*401G>T rs550262271 0.00253
NM_021044.4(DHH):c.*110G>C rs189970312 0.00073
NM_021044.4(DHH):c.1134T>A (p.Thr378=) rs144444357 0.00053
NM_021044.4(DHH):c.228C>T (p.Asp76=) rs201597166 0.00048
NM_021044.4(DHH):c.-254G>A rs577191826 0.00023
NM_021044.4(DHH):c.234G>A (p.Val78=) rs370468314 0.00018
NM_021044.4(DHH):c.*159G>T rs886049489 0.00016
NM_021044.4(DHH):c.565+13G>A rs369743278 0.00010
NM_021044.4(DHH):c.-53G>A rs913605931 0.00006
NM_021044.4(DHH):c.367C>T (p.Leu123=) rs760627027 0.00003
NM_021044.4(DHH):c.80G>A (p.Arg27Gln) rs779682957 0.00003
NM_021044.4(DHH):c.926G>T (p.Arg309Leu) rs886049490 0.00003
NM_021044.4(DHH):c.-256C>G rs563591024 0.00002
NM_021044.4(DHH):c.536G>A (p.Arg179His) rs768138247 0.00002
NM_021044.4(DHH):c.860C>A (p.Ala287Glu) rs1033987082 0.00002
NM_021044.4(DHH):c.*427C>T rs1389748240 0.00001
NM_021044.4(DHH):c.135C>T (p.Tyr45=) rs765506943 0.00001
NM_021044.4(DHH):c.217C>G (p.Arg73Gly) rs754182591 0.00001
NM_021044.4(DHH):c.630C>A (p.Ser210Arg) rs764922471 0.00001
NM_021044.4(DHH):c.726C>T (p.Phe242=) rs886049491 0.00001
NM_021044.4(DHH):c.*154G>T rs1939259964
NM_021044.4(DHH):c.*65G>T rs990245573
NM_021044.4(DHH):c.119T>C (p.Leu40Pro)
NM_021044.4(DHH):c.121G>T (p.Val41Leu)
NM_021044.4(DHH):c.151G>A (p.Gly51Ser)
NM_021044.4(DHH):c.286G>T (p.Asp96Tyr) rs1795489232
NM_021044.4(DHH):c.305G>A (p.Arg102His) rs149972274
NM_021044.4(DHH):c.324C>A (p.Asn108Lys) rs750761379
NM_021044.4(DHH):c.434G>C (p.Arg145Pro)
NM_021044.4(DHH):c.566-8C>G
NM_021044.4(DHH):c.587C>A (p.Ala196Glu) rs755199142
NM_021044.4(DHH):c.602C>A (p.Pro201Gln)
NM_021044.4(DHH):c.605G>A (p.Gly202Glu) rs2120824377
NM_021044.4(DHH):c.656T>G (p.Leu219Arg) rs1939277254
NM_021044.4(DHH):c.799C>G (p.Leu267Val) rs2120822817
NM_021044.4(DHH):c.822T>G (p.Phe274Leu) rs1242767279
NM_021044.4(DHH):c.953G>C (p.Arg318Pro) rs1373354654
NM_021044.4(DHH):c.980C>A (p.Pro327Gln) rs1939268481

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.