ClinVar Miner

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

Included ClinVar conditions (20):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 39
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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.803C>T (p.Thr268Met)
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

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