ClinVar Miner

List of variants studied for congenital hypogonadotropic hypogonadism by Victorian Clinical Genetics Services, Murdoch Childrens Research Institute

Included ClinVar conditions (68):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 31
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000406.3(GNRHR):c.317A>G (p.Gln106Arg) rs104893836 0.00234
NM_000406.3(GNRHR):c.785G>A (p.Arg262Gln) rs104893837 0.00132
NM_000475.5(NR0B1):c.600C>G (p.Cys200Trp) rs143141578 0.00039
NM_000406.3(GNRHR):c.806C>T (p.Thr269Met) rs369176613 0.00003
NM_017780.4(CHD7):c.5824C>T (p.Arg1942Trp) rs200441929 0.00003
NM_001142864.4(PIEZO1):c.640G>A (p.Ala214Thr) rs533369230 0.00001
NM_015295.3(SMCHD1):c.4316A>G (p.Asn1439Ser) rs767898877 0.00001
GRCh37/hg19 Xq28(chrX:153560562-153864851)x3
NM_000475.5(NR0B1):c.1350del (p.Arg450fs)
NM_000475.5(NR0B1):c.1A>G (p.Met1Val)
NM_001166114.2(PNPLA6):c.1612G>A (p.Val538Met)
NM_001378457.1(DMXL2):c.3385G>A (p.Val1129Ile) rs2043456849
NM_012414.4(RAB3GAP2):c.1434G>C (p.Trp478Cys)
NM_012414.4(RAB3GAP2):c.574A>G (p.Thr192Ala)
NM_017780.4(CHD7):c.1546C>T (p.Pro516Ser)
NM_017780.4(CHD7):c.2398C>T (p.Pro800Ser)
NM_017780.4(CHD7):c.2815G>T (p.Glu939Ter) rs587783434
NM_017780.4(CHD7):c.2990del (p.Leu997fs) rs1554597677
NM_017780.4(CHD7):c.3347A>G (p.Lys1116Arg) rs750214154
NM_017780.4(CHD7):c.4393C>T (p.Arg1465Ter) rs886040991
NM_017780.4(CHD7):c.5404G>A (p.Gly1802Ser) rs1554603293
NM_017780.4(CHD7):c.5405-17G>A rs794727423
NM_017780.4(CHD7):c.5893A>C (p.Lys1965Gln)
NM_017780.4(CHD7):c.604C>T (p.Gln202Ter) rs1554581277
NM_017780.4(CHD7):c.6079C>T (p.Arg2027Ter) rs886040995
NM_017780.4(CHD7):c.6371T>C (p.Phe2124Ser)
NM_017780.4(CHD7):c.6638C>G (p.Ser2213Cys)
NM_017780.4(CHD7):c.7711_7718del (p.Val2571fs)
NM_017780.4(CHD7):c.8286G>T (p.Gln2762His) rs758898311
NM_017780.4(CHD7):c.8470A>C (p.Thr2824Pro)
NM_207111.4(RNF216):c.2374G>A (p.Asp792Asn) rs1012568298

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.