ClinVar Miner

List of variants in gene SBF2 reported as pathogenic by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 26
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_030962.4(SBF2):c.1066C>T (p.Arg356Ter) rs1032796987 0.00001
NM_030962.4(SBF2):c.3526C>T (p.Arg1176Ter) rs774667470 0.00001
NM_030962.4(SBF2):c.444del (p.Asn149fs) rs1295003959 0.00001
NC_000011.10:g.(?_10193902)_(10193987_?)del
NC_000011.9:g.(?_10215443)_(10215540_?)del
NC_000011.9:g.(?_9809161)_(9812250_?)del
NC_000011.9:g.(?_9809171)_(9812240_?)del
NC_000011.9:g.(?_9864152)_(9871785_?)del
NC_000011.9:g.(?_9989878)_(9990102_?)del
NM_030962.4(SBF2):c.1459C>T (p.Arg487Ter) rs120074139
NM_030962.4(SBF2):c.1516del (p.Gln506fs)
NM_030962.4(SBF2):c.192_193dup (p.Phe65fs) rs1949709115
NM_030962.4(SBF2):c.331C>T (p.Gln111Ter)
NM_030962.4(SBF2):c.3586C>T (p.Arg1196Ter) rs120074138
NM_030962.4(SBF2):c.387T>A (p.Tyr129Ter)
NM_030962.4(SBF2):c.4187dup (p.Ser1397fs)
NM_030962.4(SBF2):c.4296T>G (p.Tyr1432Ter)
NM_030962.4(SBF2):c.4297dup (p.Arg1433fs)
NM_030962.4(SBF2):c.4363C>T (p.Gln1455Ter)
NM_030962.4(SBF2):c.4443+1G>A rs1564872328
NM_030962.4(SBF2):c.610C>T (p.Gln204Ter) rs141133392
NM_030962.4(SBF2):c.613C>T (p.Gln205Ter)
NM_030962.4(SBF2):c.724G>T (p.Glu242Ter)
NM_030962.4(SBF2):c.754_823del (p.Tyr252fs) rs1565115957
NM_030962.4(SBF2):c.952C>T (p.Gln318Ter)
NM_030962.4(SBF2):c.958C>T (p.Gln320Ter)

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.