ClinVar Miner

List of variants reported as pathogenic for hypogonadotropic hypogonadism by Genetic Services Laboratory, University of Chicago

Included ClinVar conditions (102):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 35
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HGVS dbSNP gnomAD frequency
NM_001126128.2(PROK2):c.163del (p.Ser54_Ile55insTer) rs554675432 0.00013
NM_000216.4(ANOS1):c.109G>T (p.Glu37Ter) rs1555904591
NM_017780.4(CHD7):c.1246G>T (p.Gly416Ter) rs587783428
NM_017780.4(CHD7):c.1480C>T (p.Arg494Ter) rs587783429
NM_017780.4(CHD7):c.1678dup (p.Glu560fs) rs797045461
NM_017780.4(CHD7):c.191_194del (p.Thr64fs) rs587783431
NM_017780.4(CHD7):c.2502_2509dup (p.His837fs) rs797045463
NM_017780.4(CHD7):c.2613+1G>A rs587783432
NM_017780.4(CHD7):c.2642dup (p.Tyr881Ter) rs797045465
NM_017780.4(CHD7):c.2643T>G (p.Tyr881Ter) rs587783433
NM_017780.4(CHD7):c.2815G>T (p.Glu939Ter) rs587783434
NM_017780.4(CHD7):c.2905_2906del (p.Arg969fs) rs587783436
NM_017780.4(CHD7):c.3205C>T (p.Arg1069Ter) rs886040985
NM_017780.4(CHD7):c.4318C>T (p.Gln1440Ter) rs587783440
NM_017780.4(CHD7):c.4480C>T (p.Arg1494Ter) rs587783442
NM_017780.4(CHD7):c.4634del (p.Ala1544_Leu1545insTer) rs587783443
NM_017780.4(CHD7):c.5023C>T (p.Gln1675Ter) rs797045467
NM_017780.4(CHD7):c.528dup (p.Pro177fs) rs797045468
NM_017780.4(CHD7):c.5458C>T (p.Arg1820Ter) rs587783446
NM_017780.4(CHD7):c.5551G>T (p.Glu1851Ter) rs587783447
NM_017780.4(CHD7):c.5638dup (p.Glu1880fs) rs797045469
NM_017780.4(CHD7):c.5666-2A>C rs587783448
NM_017780.4(CHD7):c.6157C>T (p.Arg2053Ter) rs587783450
NM_017780.4(CHD7):c.6446del (p.Gly2149fs) rs797045470
NM_017780.4(CHD7):c.6526del (p.Glu2176fs) rs797045471
NM_017780.4(CHD7):c.6825dup (p.Met2276fs) rs797045472
NM_017780.4(CHD7):c.6850C>T (p.Arg2284Ter) rs587783454
NM_017780.4(CHD7):c.7252C>T (p.Arg2418Ter) rs587783455
NM_017780.4(CHD7):c.7384_7387del (p.Ser2462fs) rs587783456
NM_017780.4(CHD7):c.7891C>T (p.Arg2631Ter) rs587783457
NM_017780.4(CHD7):c.7940_7941dup (p.Pro2648fs) rs797045473
NM_017780.4(CHD7):c.7957C>T (p.Arg2653Ter) rs587783458
NM_017780.4(CHD7):c.8055G>A (p.Trp2685Ter) rs587783459
NM_023110.3(FGFR1):c.1825C>T (p.Arg609Ter) rs121909639
NM_025000.4(DCAF17):c.436del (p.Ala147fs) rs797045038

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