ClinVar Miner

List of variants in gene GP1BA studied for coagulation protein disease

Included ClinVar conditions (69):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 13
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000173.7(GP1BA):c.1322_1344del (p.Ser441fs) rs770089708 0.39537
NM_000173.7(GP1BA):c.106A>G (p.Arg36Gly) rs111292798 0.00526
NM_000173.7(GP1BA):c.92T>C (p.Val31Ala) rs201827537 0.00078
NM_000173.7(GP1BA):c.256C>T (p.Leu86Phe) rs13306411 0.00007
NM_000173.7(GP1BA):c.580C>T (p.Leu194Phe) rs368111193 0.00006
NM_000173.7(GP1BA):c.380G>A (p.Arg127Gln) rs749454966 0.00004
NM_000173.7(GP1BA):c.1183C>T (p.Pro395Ser) rs376266502 0.00003
NM_000173.7(GP1BA):c.1326_1334del (p.Glu442_Pro445delinsAsp) rs2151108403
NM_000173.7(GP1BA):c.737G>T (p.Trp246Leu) rs2151107964
NM_000173.7(GP1BA):c.746G>A (p.Gly249Asp) rs121908062
NM_000173.7(GP1BA):c.746G>T (p.Gly249Val) rs121908062
NM_000173.7(GP1BA):c.763A>G (p.Met255Val) rs121908064
NM_000173.7(GP1BA):c.793G>T (p.Asp265Tyr) rs765474118

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.