List of variants in gene SLC4A1 reported as pathogenic by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

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: 19

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000342.4(SLC4A1):c.1431+1G>A	rs2047401561	0.00001
NM_000342.3(SLC4A1):c.448C>T (p.Arg150Ter)	rs56361140
NM_000342.4(SLC4A1):c.1001del (p.Ser334fs)
NM_000342.4(SLC4A1):c.1030C>T (p.Arg344Ter)	rs750930293
NM_000342.4(SLC4A1):c.1059dup (p.Pro354fs)	rs2144615066
NM_000342.4(SLC4A1):c.1117C>T (p.Gln373Ter)	rs1472653057
NM_000342.4(SLC4A1):c.1469G>A (p.Arg490His)	rs1598299485
NM_000342.4(SLC4A1):c.16-1G>A
NM_000342.4(SLC4A1):c.1610dup (p.Ser538fs)	rs2047398183
NM_000342.4(SLC4A1):c.1790del (p.Phe597fs)
NM_000342.4(SLC4A1):c.1915A>T (p.Lys639Ter)
NM_000342.4(SLC4A1):c.202G>T (p.Glu68Ter)	rs13306787
NM_000342.4(SLC4A1):c.2057+1G>A	rs2047371081
NM_000342.4(SLC4A1):c.2057+1G>C	rs2047371081
NM_000342.4(SLC4A1):c.2169G>A (p.Trp723Ter)	rs2047358814
NM_000342.4(SLC4A1):c.243G>A (p.Trp81Ter)	rs1598302037
NM_000342.4(SLC4A1):c.2501A>C (p.His834Pro)	rs2144596569
NM_000342.4(SLC4A1):c.407_408del (p.Leu136fs)
NM_000342.4(SLC4A1):c.609+1G>A	rs1362663440

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.