ClinVar Miner

List of variants reported as pathogenic for congenital hypogonadotropic hypogonadism by Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia

Included ClinVar conditions (68):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 26
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_017780.4(CHD7):c.1073del (p.Gly358fs) rs886040980
NM_017780.4(CHD7):c.1480C>T (p.Arg494Ter) rs587783429
NM_017780.4(CHD7):c.2215G>T (p.Glu739Ter) rs886040981
NM_017780.4(CHD7):c.2504_2508del (p.Tyr835fs) rs886040982
NM_017780.4(CHD7):c.2959C>T (p.Arg987Ter) rs886040983
NM_017780.4(CHD7):c.3071dup (p.Leu1025fs) rs886040984
NM_017780.4(CHD7):c.3205C>T (p.Arg1069Ter) rs886040985
NM_017780.4(CHD7):c.3526C>T (p.Gln1176Ter) rs886040986
NM_017780.4(CHD7):c.3572_3573del (p.Lys1191fs) rs886040987
NM_017780.4(CHD7):c.3674dup (p.Asn1225fs) rs886040989
NM_017780.4(CHD7):c.3811_3814del (p.Glu1271fs) rs886040990
NM_017780.4(CHD7):c.3881T>C (p.Leu1294Pro) rs864309609
NM_017780.4(CHD7):c.3964del (p.Leu1322fs) rs879255410
NM_017780.4(CHD7):c.4393C>T (p.Arg1465Ter) rs886040991
NM_017780.4(CHD7):c.469C>T (p.Arg157Ter) rs794727293
NM_017780.4(CHD7):c.4837_4838del (p.Leu1613fs) rs886040992
NM_017780.4(CHD7):c.496C>T (p.Gln166Ter) rs886040978
NM_017780.4(CHD7):c.5235_5236dup (p.Tyr1746fs) rs886040994
NM_017780.4(CHD7):c.5405-7G>A rs398124321
NM_017780.4(CHD7):c.5833C>T (p.Arg1945Ter) rs757160222
NM_017780.4(CHD7):c.6079C>T (p.Arg2027Ter) rs886040995
NM_017780.4(CHD7):c.6148C>T (p.Arg2050Ter) rs886040996
NM_017780.4(CHD7):c.7282dup (p.Arg2428fs) rs886040997
NM_017780.4(CHD7):c.7802dup (p.Tyr2601Ter) rs886040998
NM_017780.4(CHD7):c.8730_8731del (p.Pro2911fs) rs886041000
NM_017780.4(CHD7):c.8962dup (p.Asp2988fs) rs771806027

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.