ClinVar Miner

List of variants in gene CORO1A reported as benign for T-B+ severe combined immunodeficiency

Included ClinVar conditions (12):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 13
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_007074.4(CORO1A):c.1065+14G>A rs35900366 0.16173
NM_007074.4(CORO1A):c.1101C>T (p.Thr367=) rs139282852 0.00446
NM_007074.4(CORO1A):c.804C>T (p.Ser268=) rs149867063 0.00385
NM_007074.4(CORO1A):c.1065+9C>T rs117288362 0.00305
NM_007074.4(CORO1A):c.1097C>A (p.Pro366His) rs150857828 0.00265
NM_007074.4(CORO1A):c.1189G>A (p.Val397Ile) rs35967690 0.00146
NM_007074.4(CORO1A):c.451+8G>A rs112123877 0.00131
NM_007074.4(CORO1A):c.861+19G>A rs376463194 0.00127
NM_007074.4(CORO1A):c.1146T>C (p.Gly382=) rs201734831 0.00024
NM_007074.4(CORO1A):c.897C>T (p.Ser299=) rs535362943 0.00009
NM_007074.4(CORO1A):c.1065+13del
NM_007074.4(CORO1A):c.321+15G>T
NM_007074.4(CORO1A):c.843C>T (p.Ile281=) rs199650298

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.