ClinVar Miner

List of variants reported as pathogenic for congenital hypogonadotropic hypogonadism by Baylor Genetics

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_006261.5(PROP1):c.349T>A (p.Phe117Ile) rs121917840 0.00010
NM_006261.5(PROP1):c.150del (p.Arg53fs) rs587776683 0.00006
NM_006261.5(PROP1):c.358C>T (p.Arg120Cys) rs121917839 0.00005
NM_006261.5(PROP1):c.217C>T (p.Arg73Cys) rs121917843 0.00003
NM_006261.5(PROP1):c.295C>T (p.Arg99Ter) rs121917844 0.00003
NM_005149.3(TBX19):c.627C>G (p.Tyr209Ter) rs140528998 0.00001
NM_006261.5(PROP1):c.218G>A (p.Arg73His) rs121917842 0.00001
NM_006261.5(PROP1):c.334C>T (p.Arg112Ter) rs766673446 0.00001
NM_006261.5(PROP1):c.63del (p.Leu22fs) rs780134343 0.00001
NM_012414.4(RAB3GAP2):c.1276C>T (p.Arg426Cys) rs587777167 0.00001
GRCh37/hg19 15q11.2-13.1(chr15:22770994-29050198)
GRCh37/hg19 15q11.2-13.1(chr15:23615768-28561671)
GRCh37/hg19 15q11.2-13.1(chr15:23683783-28530182)
GRCh37/hg19 15q11.2-13.1(chr15:23810184-28525505)
GRCh37/hg19 15q11.2-13.3(chr15:20848750-32925141)
NM_006261.5(PROP1):c.109+1G>A
NM_006261.5(PROP1):c.109+1G>T rs1214465435
NM_006261.5(PROP1):c.112_124del (p.Ser38fs) rs587776682
NM_006261.5(PROP1):c.301_302del (p.Leu102fs) rs193922688
NM_006261.5(PROP1):c.310del (p.Arg104fs) rs786204663
NM_006261.5(PROP1):c.582G>A (p.Trp194Ter) rs121917845
NM_012414.4(RAB3GAP2):c.2366_2370delinsGACTGTGG (p.Gln789_Ser790delinsArgLeuTrp) rs1658202227
NM_017780.4(CHD7):c.1848del (p.Asp618fs) rs1811207509
NM_017780.4(CHD7):c.2504_2508del (p.Tyr835fs) rs886040982
NM_017780.4(CHD7):c.282del (p.Asn96fs) rs1563559321
NM_017780.4(CHD7):c.3364_3365del (p.Lys1122fs)
NM_017780.4(CHD7):c.469C>T (p.Arg157Ter) rs794727293
NM_017780.4(CHD7):c.4940_4944delinsA (p.Leu1647fs)
NM_017780.4(CHD7):c.511C>T (p.Gln171Ter) rs1563560018
NM_017780.4(CHD7):c.5300+1G>A
NM_017780.4(CHD7):c.5405-17G>A rs794727423
NM_017780.4(CHD7):c.5607+1G>A rs1554603672
NM_017780.4(CHD7):c.6936+2T>C
NM_017780.4(CHD7):c.6955C>T (p.Arg2319Cys) rs121434341
NM_017780.4(CHD7):c.7879C>T (p.Arg2627Ter) rs1064793346
NM_019066.5(MAGEL2):c.1802del (p.Pro601fs) rs398122416
NM_019066.5(MAGEL2):c.1996dup (p.Gln666fs) rs770374710
NM_019066.5(MAGEL2):c.3124C>T (p.Gln1042Ter) rs398122418
NM_019066.5(MAGEL2):c.3181_3182del (p.Ile1061fs) rs398122417
NM_025000.4(DCAF17):c.436del (p.Ala147fs) rs797045038

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.