ClinVar Miner

List of variants studied for congenital hypogonadotropic hypogonadism by Natera, Inc.

Included ClinVar conditions (68):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 60
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HGVS dbSNP gnomAD frequency
NM_006261.5(PROP1):c.59A>G (p.Asn20Ser) rs7445271 0.99974
NM_006261.5(PROP1):c.109+3G>A rs4072924 0.54780
NM_006261.5(PROP1):c.27T>C (p.Ala9=) rs1135320 0.40746
NM_178138.6(LHX3):c.79+1975G>A rs2274116 0.23265
NM_006261.5(PROP1):c.424G>A (p.Ala142Thr) rs1800197 0.22589
NM_006261.5(PROP1):c.109+435G>A rs73346254 0.06917
NM_006261.5(PROP1):c.174G>A (p.Pro58=) rs2233784 0.02188
NM_178138.6(LHX3):c.454+3C>T rs34356735 0.01349
NM_178138.6(LHX3):c.108G>A (p.Gln36=) rs33998096 0.01071
NM_006261.5(PROP1):c.425C>T (p.Ala142Val) rs143790367 0.00193
NM_006261.5(PROP1):c.534G>A (p.Gln178=) rs73807328 0.00184
NM_006261.5(PROP1):c.471C>T (p.Tyr157=) rs145883811 0.00124
NM_178138.6(LHX3):c.79+1902C>T rs375579333 0.00087
NM_178138.6(LHX3):c.705C>G (p.Arg235=) rs138595537 0.00073
NM_178138.6(LHX3):c.920G>C (p.Arg307Pro) rs182345541 0.00073
NM_178138.6(LHX3):c.964G>A (p.Ala322Thr) rs201356862 0.00035
NM_006261.5(PROP1):c.110-8G>A rs377698903 0.00024
NM_178138.6(LHX3):c.441C>T (p.Thr147=) rs200521449 0.00024
NM_006261.5(PROP1):c.96G>A (p.Pro32=) rs144314831 0.00019
NM_006261.5(PROP1):c.385C>T (p.Arg129Cys) rs140207251 0.00018
NM_178138.6(LHX3):c.534C>T (p.Thr178=) rs564712080 0.00018
NM_178138.6(LHX3):c.79+1935C>G rs769912904 0.00016
NM_006261.5(PROP1):c.234A>G (p.Pro78=) rs533923552 0.00013
NM_006261.5(PROP1):c.303T>C (p.Ser101=) rs114584451 0.00013
NM_006261.5(PROP1):c.311G>A (p.Arg104Gln) rs369390421 0.00010
NM_178138.6(LHX3):c.739G>A (p.Glu247Lys) rs767763626 0.00009
NM_006261.5(PROP1):c.81G>A (p.Pro27=) rs749312622 0.00008
NM_006261.5(PROP1):c.150del (p.Arg53fs) rs587776683 0.00006
NM_178138.6(LHX3):c.251+9C>T rs569254423 0.00006
NM_178138.6(LHX3):c.79+1904C>T rs1021046718 0.00006
NM_178138.6(LHX3):c.87G>A (p.Pro29=) rs183980824 0.00006
NM_178138.6(LHX3):c.919C>A (p.Arg307=) rs145867977 0.00006
NM_178138.6(LHX3):c.94G>A (p.Ala32Thr) rs201187873 0.00006
NM_006261.5(PROP1):c.624C>T (p.Cys208=) rs761651134 0.00005
NM_178138.6(LHX3):c.1155C>T (p.Pro385=) rs377653669 0.00004
NM_178138.6(LHX3):c.93C>T (p.Cys31=) rs558712702 0.00004
NM_006261.5(PROP1):c.153G>C (p.Gly51=) rs555891165 0.00003
NM_006261.5(PROP1):c.217C>T (p.Arg73Cys) rs121917843 0.00003
NM_178138.6(LHX3):c.555C>A (p.His185Gln) rs760626241 0.00003
NM_178138.6(LHX3):c.993G>A (p.Gln331=) rs752480970 0.00003
NM_006261.5(PROP1):c.296G>A (p.Arg99Gln) rs137853100 0.00002
NM_006261.5(PROP1):c.373C>T (p.Arg125Trp) rs146918863 0.00002
NM_006261.5(PROP1):c.52G>A (p.Gly18Ser) rs775353413 0.00002
NM_006261.5(PROP1):c.249G>A (p.Gln83=) rs373160119 0.00001
NM_006261.5(PROP1):c.456T>C (p.Ala152=) rs758911793 0.00001
NM_178138.6(LHX3):c.79+1933G>C rs1391957672 0.00001
NM_006261.5(PROP1):c.131G>A (p.Arg44Lys) rs1755702883
NM_006261.5(PROP1):c.152G>C (p.Gly51Ala) rs2233783
NM_006261.5(PROP1):c.152G>T (p.Gly51Val) rs2233783
NM_006261.5(PROP1):c.301_302del (p.Leu102fs) rs193922688
NM_006261.5(PROP1):c.51C>G (p.Val17=) rs760446926
NM_006261.5(PROP1):c.609C>T (p.Ala203=) rs751079956
NM_006261.5(PROP1):c.66G>A (p.Leu22=) rs1582664807
NM_178138.6(LHX3):c.214C>T (p.Arg72Ter) rs774533927
NM_178138.6(LHX3):c.582G>C (p.Thr194=) rs759590430
NM_178138.6(LHX3):c.607-3_630del rs969810391
NM_178138.6(LHX3):c.80-2A>G rs2131036410
NM_178138.6(LHX3):c.804G>A (p.Pro268=) rs771201500
NM_178138.6(LHX3):c.819C>T (p.Tyr273=) rs373923718
NM_178138.6(LHX3):c.915G>A (p.Gln305=) rs548140963

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