List of variants in gene STAR reported as pathogenic

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: 58

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000349.3(STAR):c.64+1G>T	rs765968701	0.00007
NM_000349.3(STAR):c.661G>A (p.Gly221Ser)	rs139081695	0.00004
NM_000349.3(STAR):c.562C>T (p.Arg188Cys)	rs104894090	0.00003
NM_000349.3(STAR):c.772C>T (p.Gln258Ter)	rs104894085	0.00003
NM_000349.3(STAR):c.824T>C (p.Leu275Pro)	rs762245736	0.00003
NM_000349.3(STAR):c.653C>T (p.Ala218Val)	rs137852690	0.00002
NM_000349.3(STAR):c.814C>T (p.Arg272Cys)	rs751759820	0.00002
NM_000349.3(STAR):c.135del (p.Ser46fs)	rs193922393	0.00001
NM_000349.3(STAR):c.144G>A (p.Trp48Ter)	rs749415045	0.00001
NM_000349.3(STAR):c.229C>T (p.Gln77Ter)	rs781281145	0.00001
NM_000349.3(STAR):c.441G>A (p.Trp147Ter)	rs760531501	0.00001
NM_000349.3(STAR):c.465+2T>C	rs777876822	0.00001
NM_000349.3(STAR):c.545G>A (p.Arg182His)	rs104894086	0.00001
NM_000349.3(STAR):c.559G>A (p.Val187Met)	rs104894089	0.00001
NM_000349.3(STAR):c.577C>T (p.Arg193Ter)	rs387907235	0.00001
NM_000349.3(STAR):c.629_630del (p.Pro210fs)	rs771895449	0.00001
NM_000349.3(STAR):c.719del (p.Thr240fs)	rs1171152008	0.00001
NM_000349.3(STAR):c.76C>T (p.Gln26Ter)	rs1303620777	0.00001
NM_000349.3(STAR):c.779T>C (p.Leu260Pro)	rs551783234	0.00001
NM_000349.3(STAR):c.125dup (p.Thr44fs)	rs750549499
NM_000349.3(STAR):c.129del (p.Thr44fs)	rs2130617478
NM_000349.3(STAR):c.173_177del (p.Leu58fs)	rs2487068851
NM_000349.3(STAR):c.178+2dup	rs1563268785
NM_000349.3(STAR):c.201_202del (p.Tyr68fs)	rs1563268652
NM_000349.3(STAR):c.290del (p.Lys97fs)	rs1802608033
NM_000349.3(STAR):c.298_299del (p.Gln101fs)	rs765904696
NM_000349.3(STAR):c.306+1del	rs2487067183
NM_000349.3(STAR):c.319A>T (p.Lys107Ter)	rs532151097
NM_000349.3(STAR):c.33del (p.Ser12fs)	rs1802653591
NM_000349.3(STAR):c.398_404del (p.Leu133fs)
NM_000349.3(STAR):c.401_402del (p.Leu133_Tyr134insTer)	rs2487063325
NM_000349.3(STAR):c.402T>A (p.Tyr134Ter)	rs144881901
NM_000349.3(STAR):c.407del (p.Glu136fs)	rs1449423249
NM_000349.3(STAR):c.422_423insTT (p.Met141fs)	rs2130614304
NM_000349.3(STAR):c.42C>A (p.Tyr14Ter)	rs1217935335
NM_000349.3(STAR):c.466-11T>A	rs1053284504
NM_000349.3(STAR):c.472C>T (p.Gln158Ter)	rs1157869748
NM_000349.3(STAR):c.505G>A (p.Glu169Lys)	rs747169620
NM_000349.3(STAR):c.544C>T (p.Arg182Cys)	rs369232492
NM_000349.3(STAR):c.545G>T (p.Arg182Leu)	rs104894086
NM_000349.3(STAR):c.574C>T (p.Arg192Cys)	rs752311616
NM_000349.3(STAR):c.60dup (p.Lys21fs)	rs2487074150
NM_000349.3(STAR):c.637A>T (p.Lys213Ter)	rs2487061701
NM_000349.3(STAR):c.64+1G>A	rs765968701
NM_000349.3(STAR):c.65-12_68del	rs2130617665
NM_000349.3(STAR):c.650G>C (p.Arg217Thr)	rs137852689
NM_000349.3(STAR):c.661_713dup (p.Leu239fs)	rs2487059083
NM_000349.3(STAR):c.677del (p.Val226fs)	rs1554502732
NM_000349.3(STAR):c.695del (p.Gly232fs)	rs757367795
NM_000349.3(STAR):c.701_702dup (p.Ser235fs)	rs751815828
NM_000349.3(STAR):c.707_708delinsCTT (p.Lys236fs)	rs2487059108
NM_000349.3(STAR):c.714del (p.Lys238fs)	rs1417088430
NM_000349.3(STAR):c.723G>A (p.Trp241Ter)	rs1460077934
NM_000349.3(STAR):c.73dup (p.Gln25fs)	rs2487069292
NM_000349.3(STAR):c.749G>A (p.Trp250Ter)	rs104894087
NM_000349.3(STAR):c.784del (p.Gln262fs)	rs2130611178
NM_000349.3(STAR):c.811del (p.Leu271fs)	rs1350908961
NM_000349.3(STAR):c.94dup (p.Ser32fs)	rs2130617601

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.