List of variants reported as benign for 46 XX gonadal dysgenesis by Illumina Laboratory Services, Illumina

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 14

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000145.4(FSHR):c.2039G>A (p.Ser680Asn)	rs6166	0.56644
NM_000145.4(FSHR):c.919G>A (p.Ala307Thr)	rs6165	0.47188
NM_000145.4(FSHR):c.-29G>A	rs1394205	0.27960
NM_005448.2(BMP15):c.-9C>G	rs3810682	0.19134
NM_005448.2(BMP15):c.852C>T (p.Ser284=)	rs17003221	0.14279
NM_005448.2(BMP15):c.308A>G (p.Asn103Ser)	rs41308602	0.05113
NM_000145.4(FSHR):c.*256C>T	rs72873077	0.02778
NM_005448.2(BMP15):c.*13G>A	rs112064937	0.01551
NM_005448.2(BMP15):c.538G>A (p.Ala180Thr)	rs104894767	0.01035
NM_005448.2(BMP15):c.819A>C (p.Ser273=)	rs73488038	0.00737
NM_005448.2(BMP15):c.1011C>T (p.His337=)	rs151223850	0.00411
NM_005448.2(BMP15):c.162C>T (p.Gly54=)	rs149633402	0.00010
NM_005448.2(BMP15):c.598C>T (p.His200Tyr)	rs202165852	0.00004
NM_005448.2(BMP15):c.13A>C (p.Ser5Arg)	rs113099187

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.