ClinVar Miner

List of variants in gene FRAS1 reported as pathogenic for abdominal and pelvic region disorder

Included ClinVar conditions (891):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 15
Download table as spreadsheet
HGVS dbSNP
FRAS1, 1-BP INS, 5605T
NM_025074.6(FRAS1):c.10287delC (p.Tyr3429Terfs) rs886037765
NM_025074.6(FRAS1):c.2719C>T (p.Gln907Ter) rs755750961
NM_025074.6(FRAS1):c.3799C>T (p.Gln1267Ter) rs120074158
NM_025074.6(FRAS1):c.4271C>G (p.Ser1424Ter) rs120074159
NM_025074.6(FRAS1):c.5419_5424delTTCTCT (p.Phe1807_Ser1808del) rs730882178
NM_025074.6(FRAS1):c.5664_5665+19delinsT rs886037766
NM_025074.6(FRAS1):c.7522+1G>T rs730882180
NM_025074.6(FRAS1):c.8602C>T (p.Gln2868Ter) rs120074156
NM_025074.6(FRAS1):c.9013C>T (p.Gln3005Ter) rs120074157
NM_025074.7(FRAS1):c.10820C>G (p.Ser3607Ter)
NM_025074.7(FRAS1):c.11897dup (p.Asn3967Glufs)
NM_025074.7(FRAS1):c.516G>A (p.Trp172Ter)
NM_025074.7(FRAS1):c.6963_6964dup (p.Val2322Glyfs) rs730882179
NM_025074.7:c.11270_11273del

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.