List of variants in gene BPTF reported as pathogenic for not provided

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 18

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_182641.4(BPTF):c.2245dup (p.Arg749fs)	rs1598468564
NM_182641.4(BPTF):c.2346_2349del (p.Thr783fs)	rs2061265539
NM_182641.4(BPTF):c.2521C>T (p.Arg841Ter)
NM_182641.4(BPTF):c.255del (p.Ser86fs)	rs1598050118
NM_182641.4(BPTF):c.255dup (p.Ser86fs)	rs1598050118
NM_182641.4(BPTF):c.2598dup (p.Glu867fs)	rs753044214
NM_182641.4(BPTF):c.3074_3075del (p.Glu1025fs)
NM_182641.4(BPTF):c.3302del (p.Asn1101fs)	rs1598599641
NM_182641.4(BPTF):c.4035_4036del (p.Cys1345_Glu1346delinsTer)	rs2146936860
NM_182641.4(BPTF):c.4177C>T (p.Arg1393Ter)
NM_182641.4(BPTF):c.4469del (p.Ser1490fs)	rs2146949591
NM_182641.4(BPTF):c.4838_4839del (p.Val1613fs)	rs1555652383
NM_182641.4(BPTF):c.5212C>T (p.Arg1738Ter)	rs2146966936
NM_182641.4(BPTF):c.5301del (p.Thr1766_Trp1767insTer)	rs2146968484
NM_182641.4(BPTF):c.5649del (p.Ile1883fs)	rs1598681680
NM_182641.4(BPTF):c.6622C>T (p.Arg2208Ter)	rs1158151918
NM_182641.4(BPTF):c.7162C>T (p.Gln2388Ter)
NM_182641.4(BPTF):c.8572C>T (p.Arg2858Ter)

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.