ClinVar Miner

List of variants reported as likely pathogenic for 46 XX gonadal dysgenesis

Included ClinVar conditions (16):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 14
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001042697.2(ZSWIM7):c.231_232del (p.Cys78fs) rs368517882 0.00040
NM_020401.4(NUP107):c.1064G>A (p.Arg355His) rs747135247 0.00020
NM_020191.4(MRPS22):c.509G>A (p.Arg170His) rs119478059 0.00012
NM_005448.2(BMP15):c.985C>T (p.Arg329Cys) rs782375794 0.00002
NM_000145.4(FSHR):c.1043C>G (p.Pro348Arg) rs386833510 0.00001
NM_000145.4(FSHR):c.1384G>C (p.Ala462Pro) rs1674323340
NM_000145.4(FSHR):c.1724C>T (p.Ala575Val) rs386833511
NM_000145.4(FSHR):c.1760C>A (p.Pro587His) rs386833512
NM_000145.4(FSHR):c.1801C>G (p.Leu601Val) rs386833513
NM_000145.4(FSHR):c.1862C>T (p.Ala621Val) rs1674297842
NM_000145.4(FSHR):c.662T>G (p.Val221Gly) rs386833514
NM_000145.4(FSHR):c.671A>T (p.Asp224Val) rs386833515
NM_001101677.2(SOHLH1):c.397C>T (p.Gln133Ter)
NM_005448.2(BMP15):c.462del (p.Trp155fs) rs1923115287

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.