List of variants in gene LRRC8A studied for hematologic disorder

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 18

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_019594.4(LRRC8A):c.1476T>C (p.Arg492=)	rs3750319	0.60629
NM_019594.4(LRRC8A):c.1014T>C (p.Tyr338=)	rs3750320	0.24050
NM_019594.4(LRRC8A):c.1509C>T (p.Thr503=)	rs3750318	0.02605
NM_019594.4(LRRC8A):c.1458C>T (p.Pro486=)	rs11999276	0.01838
NM_019594.4(LRRC8A):c.2118C>G (p.Leu706=)	rs35266233	0.01461
NM_019594.4(LRRC8A):c.2157+11C>T	rs11999754	0.01366
NM_019594.4(LRRC8A):c.1803T>C (p.Cys601=)	rs16930757	0.01361
NM_019594.4(LRRC8A):c.51C>T (p.Tyr17=)	rs16930745	0.00880
NM_019594.4(LRRC8A):c.774C>T (p.Asp258=)	rs41275930	0.00741
NM_019594.4(LRRC8A):c.1995G>A (p.Glu665=)	rs11999752	0.00533
NM_019594.4(LRRC8A):c.1371C>T (p.Pro457=)	rs11999256	0.00516
NM_019594.4(LRRC8A):c.1699G>A (p.Val567Met)	rs143836544	0.00321
NM_019594.4(LRRC8A):c.1606G>A (p.Val536Ile)	rs138622041	0.00102
NM_019594.4(LRRC8A):c.33G>A (p.Ala11=)	rs202218761	0.00011
NM_019594.4(LRRC8A):c.1586C>T (p.Ala529Val)	rs150164316	0.00004
NM_019594.4(LRRC8A):c.203C>T (p.Ser68Leu)	rs147311433	0.00002
NM_019594.4(LRRC8A):c.-2C>T
NM_019594.4(LRRC8A):c.2267del (p.Leu756fs)	rs1840810037

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.