ClinVar Miner

List of variants studied for congenital hypogonadotropic hypogonadism by Centre for Mendelian Genomics, University Medical Centre Ljubljana

Included ClinVar conditions (68):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 40
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_019066.5(MAGEL2):c.385A>G (p.Met129Val) rs188762916 0.00109
NM_004667.6(HERC2):c.10424C>T (p.Ser3475Phe) rs148150960 0.00031
NM_017780.4(CHD7):c.2831G>A (p.Arg944His) rs117506164 0.00030
NM_000406.3(GNRHR):c.416G>A (p.Arg139His) rs104893842 0.00021
NM_001166114.2(PNPLA6):c.4045C>T (p.Arg1349Trp) rs374434303 0.00006
NM_006261.5(PROP1):c.150del (p.Arg53fs) rs587776683 0.00006
NM_002303.6(LEPR):c.2221G>A (p.Val741Met) rs532294036 0.00003
NM_004667.6(HERC2):c.8012C>G (p.Ala2671Gly) rs759661460 0.00003
NM_004667.6(HERC2):c.5351G>A (p.Arg1784His) rs1377524842 0.00001
NM_004667.6(HERC2):c.8598C>G (p.Ile2866Met) rs1009967374 0.00001
NM_015295.3(SMCHD1):c.5798T>A (p.Leu1933His) rs1405560459 0.00001
NM_017780.4(CHD7):c.3712G>A (p.Val1238Ile) rs794727150 0.00001
NM_017780.4(CHD7):c.6817A>G (p.Asn2273Asp) rs1329129099 0.00001
NM_017780.4(CHD7):c.7958G>A (p.Arg2653Gln) rs747082615 0.00001
NM_017780.4(CHD7):c.8957G>C (p.Gly2986Ala) rs374004489 0.00001
NM_019066.5(MAGEL2):c.1220C>T (p.Pro407Leu) rs964772041 0.00001
NM_000061.3(BTK):c.895-12T>C rs1926564625
NM_000406.3(GNRHR):c.511G>A (p.Ala171Thr) rs74452732
NM_001166114.2(PNPLA6):c.898C>G (p.Pro300Ala) rs1057518936
NM_002487.3(NDN):c.212A>G (p.Gln71Arg) rs1891161078
NM_002487.3(NDN):c.472dup (p.Thr158fs) rs1891151702
NM_004667.6(HERC2):c.11701-1G>A rs1891259083
NM_005634.3(SOX3):c.186TCC[1] (p.Pro64del) rs1927349741
NM_012431.3(SEMA3E):c.944T>G (p.Leu315Arg) rs1788311962
NM_015295.3(SMCHD1):c.2972G>A (p.Ser991Asn) rs2075090484
NM_017780.4(CHD7):c.1405A>G (p.Arg469Gly) rs868107005
NM_017780.4(CHD7):c.1480C>T (p.Arg494Ter) rs587783429
NM_017780.4(CHD7):c.1513C>T (p.Gln505Ter) rs1554581757
NM_017780.4(CHD7):c.1676C>T (p.Ser559Leu) rs1402410171
NM_017780.4(CHD7):c.299C>A (p.Ser100Tyr) rs1809030198
NM_017780.4(CHD7):c.3659C>A (p.Ala1220Asp) rs1181372363
NM_017780.4(CHD7):c.4203_4204del (p.His1401fs) rs1804800490
NM_017780.4(CHD7):c.6103+9A>G rs1805508072
NM_017780.4(CHD7):c.6551A>T (p.Lys2184Met) rs749435288
NM_017780.4(CHD7):c.8182G>T (p.Ala2728Ser) rs757725468
NM_018117.12(WDR11):c.373C>T (p.Gln125Ter) rs1846091309
NM_019066.5(MAGEL2):c.2945_2946del (p.Leu981_Ser982insTer) rs1890356742
NM_019066.5(MAGEL2):c.3131C>T (p.Ser1044Leu) rs1267004913
NM_019066.5(MAGEL2):c.539_568del (p.Val180_Met189del) rs779748148
NM_033343.4(LHX4):c.90C>G (p.Cys30Trp) rs147491286

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.