List of variants in gene SPART 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: 16

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_015087.5(SPART):c.364_365del (p.Met122fs)	rs775736341	0.00009
NM_015087.5(SPART):c.1369C>T (p.Arg457Ter)	rs200373703	0.00003
NM_015087.5(SPART):c.388C>T (p.Gln130Ter)	rs1233117382	0.00001
NC_000013.10:g.(?_36878502)_(36909967_?)del
NM_015087.5(SPART):c.1110del (p.Lys370fs)	rs1060499524
NM_015087.5(SPART):c.1257G>A (p.Trp419Ter)
NM_015087.5(SPART):c.1294del (p.Ser432fs)	rs2137335988
NM_015087.5(SPART):c.1474_1477del (p.Gln492fs)	rs777288668
NM_015087.5(SPART):c.253_254del (p.Leu85fs)
NM_015087.5(SPART):c.475_476del (p.Leu159fs)	rs1480709252
NM_015087.5(SPART):c.553_554del (p.Val185fs)
NM_015087.5(SPART):c.685C>T (p.Gln229Ter)	rs748835312
NM_015087.5(SPART):c.696del (p.Phe232fs)	rs770560051
NM_015087.5(SPART):c.696dup (p.Val233fs)
NM_015087.5(SPART):c.776del (p.Asp259fs)
NM_015087.5(SPART):c.844_847del (p.Arg282fs)

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.