ClinVar Miner

List of variants studied for Leydig cell hypoplasia by OMIM

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 19
Download table as spreadsheet
HGVS dbSNP
LHCGR, 33-BP INS, NT54
LHCGR, 6-BP DEL, NT1822
LHCGR, EX10DEL
NM_000233.4(LHCGR):c.1027T>A (p.Cys343Ser) rs121912536
NM_000233.4(LHCGR):c.1060G>A (p.Glu354Lys) rs121912529
NM_000233.4(LHCGR):c.1505T>C (p.Leu502Pro) rs121912538
NM_000233.4(LHCGR):c.1627T>C (p.Cys543Arg) rs121912537
NM_000233.4(LHCGR):c.1635C>A (p.Cys545Ter) rs121912523
NM_000233.4(LHCGR):c.1660C>T (p.Arg554Ter) rs121912524
NM_000233.4(LHCGR):c.1777G>C (p.Ala593Pro) rs121912520
NM_000233.4(LHCGR):c.1874T>A (p.Ile625Lys) rs121912530
NM_000233.4(LHCGR):c.391T>C (p.Cys131Arg) rs121912527
NM_000233.4(LHCGR):c.430G>T (p.Val144Phe) rs121912539
NM_000894.2(LHB):c.167G>A (p.Gly56Asp) rs121912517
NM_000894.2(LHB):c.183+1G>C rs786204822
NM_000894.2(LHB):c.183+1G>T rs786204822
NM_000894.2(LHB):c.221A>G (p.Gln74Arg) rs5030773
NM_000894.2(LHB):c.28_39del (p.Leu10_Leu13del) rs769066903
NM_000894.2(LHB):c.88_96del (p.His30_Ile32del) rs786204823

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.