List of variants in gene SLC4A2 reported as uncertain significance by Martin Pollak Laboratory, Beth Israel Deaconess Medical Center

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: 13

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_003040.4(SLC4A2):c.3559C>T (p.Leu1187=)	rs387907527	0.00003
NM_003040.4(SLC4A2):c.646G>A (p.Gly216Arg)	rs375977483	0.00003
NM_003040.4(SLC4A2):c.94G>A (p.Glu32Lys)	rs376056989	0.00002
NM_003040.4(SLC4A2):c.2220G>T (p.Val740=)	rs387907528
NM_003040.4(SLC4A2):c.2242G>T (p.Ala748Ser)	rs387907519
NM_003040.4(SLC4A2):c.237C>T (p.His79=)	rs387907523
NM_003040.4(SLC4A2):c.3140C>T (p.Ala1047Val)	rs387907521
NM_003040.4(SLC4A2):c.3342C>T (p.Pro1114=)	rs387907520
NM_003040.4(SLC4A2):c.3358G>A (p.Gly1120Arg)	rs387907526
NM_003040.4(SLC4A2):c.3474C>T (p.Val1158=)	rs387907522
NM_003040.4(SLC4A2):c.3550G>A (p.Ala1184Thr)	rs387907518
NM_003040.4(SLC4A2):c.53C>T (p.Pro18Leu)	rs387907524
NM_003040.4(SLC4A2):c.61G>A (p.Glu21Lys)	rs387907525

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.