ClinVar Miner

List of variants in gene ABCB1 reported by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 20
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001348946.2(ABCB1):c.3320A>C (p.Gln1107Pro) rs55852620 0.00629
NM_001348946.2(ABCB1):c.781A>G (p.Ile261Val) rs36008564 0.00614
NM_001348946.2(ABCB1):c.3751G>A (p.Val1251Ile) rs28364274 0.00469
NM_001348946.2(ABCB1):c.1225-4G>A rs2032586 0.00379
NM_001348946.2(ABCB1):c.1662G>C (p.Leu554=) rs2235012 0.00375
NM_001348946.2(ABCB1):c.2650C>T (p.Leu884=) rs9282563 0.00369
NM_001348946.2(ABCB1):c.729A>G (p.Glu243=) rs2235022 0.00330
NM_001348946.2(ABCB1):c.548A>G (p.Asn183Ser) rs60419673 0.00123
NM_001348946.2(ABCB1):c.3396C>T (p.Ala1132=) rs34748655 0.00093
NM_001348946.2(ABCB1):c.3747C>G (p.Gly1249=) rs2235051 0.00086
NM_001348946.2(ABCB1):c.738G>A (p.Ala246=) rs28381867 0.00031
NM_001348946.2(ABCB1):c.1000-8T>A rs575066383 0.00019
NM_001348946.2(ABCB1):c.1794C>T (p.Ile598=) rs28381915 0.00018
NM_001348946.2(ABCB1):c.2106G>A (p.Lys702=) rs143151234 0.00016
NM_001348946.2(ABCB1):c.2925G>A (p.Leu975=) rs138503485 0.00011
NM_001348946.2(ABCB1):c.3085-10C>T rs199843908 0.00006
NM_001348946.2(ABCB1):c.1854G>A (p.Glu618=) rs150277104 0.00003
NM_001348946.2(ABCB1):c.1149C>T (p.His383=) rs760114613 0.00002
NM_001348946.2(ABCB1):c.2781A>G (p.Pro927=) rs779463513 0.00001
NM_001348946.2(ABCB1):c.2679T>C (p.Ser893=) rs1584853041

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.