ClinVar Miner

List of variants in gene BMP15 studied for 46 XX gonadal dysgenesis

Included ClinVar conditions (16):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 29
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
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_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.443T>C (p.Leu148Pro) rs114823607 0.00825
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.581T>C (p.Phe194Ser) rs141218518 0.00162
NM_005448.2(BMP15):c.202C>T (p.Arg68Trp) rs104894763 0.00056
NM_005448.2(BMP15):c.226C>T (p.Arg76Cys) rs104894766 0.00025
NM_005448.2(BMP15):c.811G>T (p.Gly271Cys) rs782269507 0.00025
NM_005448.2(BMP15):c.162C>T (p.Gly54=) rs149633402 0.00010
NM_005448.2(BMP15):c.727A>G (p.Ile243Val) rs782379521 0.00010
NM_005448.2(BMP15):c.520C>T (p.Pro174Ser) rs201058308 0.00004
NM_005448.2(BMP15):c.598C>T (p.His200Tyr) rs202165852 0.00004
NM_005448.2(BMP15):c.413G>A (p.Arg138His) rs371418883 0.00003
NM_005448.2(BMP15):c.617G>A (p.Arg206His) rs782516193 0.00003
NM_005448.2(BMP15):c.985C>T (p.Arg329Cys) rs782375794 0.00002
NM_005448.2(BMP15):c.631C>T (p.Gln211Ter) rs137853320 0.00001
NM_005448.2(BMP15):c.-49_*34del (p.Met1fs)
NM_005448.2(BMP15):c.13A>C (p.Ser5Arg) rs113099187
NM_005448.2(BMP15):c.462del (p.Trp155fs) rs1923115287
NM_005448.2(BMP15):c.596del (p.Gly199fs) rs782784547
NM_005448.2(BMP15):c.611G>A (p.Arg204Gln)
NM_005448.2(BMP15):c.661T>C (p.Trp221Arg) rs375284458
NM_005448.2(BMP15):c.704A>G (p.Tyr235Cys) rs104894765
NM_005448.2(BMP15):c.731G>A (p.Arg244Gln)
NM_005448.2(BMP15):c.920A>G (p.His307Arg) rs1923134918

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.