List of variants in gene SGCA reported as uncertain significance by Counsyl

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: 17

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000023.4(SGCA):c.662G>A (p.Arg221His)	rs138254713	0.00027
NM_000023.4(SGCA):c.614C>A (p.Pro205His)	rs757481230	0.00005
NM_000023.4(SGCA):c.307A>G (p.Ile103Val)	rs370819630	0.00003
NM_000023.4(SGCA):c.*12+2T>C	rs1297436069	0.00001
NM_000023.4(SGCA):c.661C>T (p.Arg221Cys)	rs748936034	0.00001
NM_000023.4(SGCA):c.279_284del (p.Thr94_Pro95del)	rs1555568383
NM_000023.4(SGCA):c.285AGA[1] (p.Glu96del)	rs1555568389
NM_000023.4(SGCA):c.308T>C (p.Ile103Thr)	rs1161291343
NM_000023.4(SGCA):c.541C>A (p.Arg181Ser)	rs574376340
NM_000023.4(SGCA):c.614C>T (p.Pro205Leu)	rs757481230
NM_000023.4(SGCA):c.622A>G (p.Thr208Ala)	rs1555568984
NM_000023.4(SGCA):c.644C>T (p.Ser215Phe)	rs750844090
NM_000023.4(SGCA):c.718T>G (p.Phe240Val)	rs1555569031
NM_000023.4(SGCA):c.727G>A (p.Asp243Asn)	rs1555569038
NM_000023.4(SGCA):c.821TCT[1] (p.Phe275del)	rs750086289
NM_000023.4(SGCA):c.876_887del (p.Thr293_Val296del)	rs1555569303
NM_000023.4(SGCA):c.929_930del (p.Tyr310fs)	rs1555569329

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.