ClinVar Miner

List of variants studied for Platelet-type bleeding disorder 11

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 19
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_016363.5(GP6):c.655C>T (p.Pro219Ser) rs1613662 0.83313
NM_016363.5(GP6):c.964A>C (p.Asn322His) rs1671152 0.81180
NM_016363.5(GP6):c.950T>A (p.Leu317Gln) rs1654413 0.80050
NM_016363.5(GP6):c.495T>C (p.Phe165=) rs892089 0.75735
NM_016363.5(GP6):c.*792T>C rs1671150 0.75248
NM_016363.5(GP6):c.*395C>T rs1671151 0.74102
NM_016363.5(GP6):c.*693A>G rs1654412 0.74079
NM_016363.5(GP6):c.745G>A (p.Ala249Thr) rs2304167 0.73790
NM_016363.5(GP6):c.936C>G (p.Leu312=) rs2304166 0.48243
NM_016363.5(GP6):c.172C>T (p.Arg58Cys) rs199588110 0.00125
NM_001083899.2(GP6):c.584G>A (p.Ser195Asn) rs200525940 0.00006
NM_001083899.2(GP6):c.356_360del (p.Gln119fs)
NM_016363.5(GP6):c.*485C>T
NM_016363.5(GP6):c.142_157del (p.Cys48fs) rs2146873791
NM_016363.5(GP6):c.356_360dup (p.Gly121fs) rs760074158
NM_016363.5(GP6):c.484A>C (p.Arg162=) rs892090
NM_016363.5(GP6):c.576A>G (p.Ser192=) rs1654425
NM_016363.5(GP6):c.708_711del (p.Asn236fs) rs754929349
NM_016363.5(GP6):c.709G>A (p.Glu237Lys) rs1654416

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.