ClinVar Miner

List of variants in gene ABCA4 reported as likely pathogenic for Retinitis pigmentosa 19

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 24
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000350.3(ABCA4):c.5714+5G>A rs61751407 0.00036
NM_000350.3(ABCA4):c.6119G>A (p.Arg2040Gln) rs148460146 0.00024
NM_000350.3(ABCA4):c.4577C>T (p.Thr1526Met) rs61750152 0.00016
NM_000350.3(ABCA4):c.5196+1137G>A rs778234759 0.00013
NM_000350.3(ABCA4):c.3056C>T (p.Thr1019Met) rs201855602 0.00002
NM_000350.3(ABCA4):c.1648G>A (p.Gly550Arg) rs61748558 0.00001
NM_000350.3(ABCA4):c.2160+1G>T rs61749427 0.00001
NM_000350.3(ABCA4):c.5113C>T (p.Arg1705Trp) rs771038310 0.00001
NM_000350.3(ABCA4):c.6088C>T (p.Arg2030Ter) rs61751383 0.00001
NM_000350.3(ABCA4):c.1239+1G>T
NM_000350.3(ABCA4):c.1888del (p.Val630fs)
NM_000350.3(ABCA4):c.1988G>A (p.Trp663Ter) rs865990202
NM_000350.3(ABCA4):c.2261T>C (p.Phe754Ser)
NM_000350.3(ABCA4):c.2279T>C (p.Leu760Pro)
NM_000350.3(ABCA4):c.2571del (p.Asp858fs) rs61752407
NM_000350.3(ABCA4):c.2744-2A>G
NM_000350.3(ABCA4):c.302+4A>C rs1662599697
NM_000350.3(ABCA4):c.4537dup (p.Gln1513fs) rs281865377
NM_000350.3(ABCA4):c.5312+2_5312+3del
NM_000350.3(ABCA4):c.5637del (p.Phe1880fs)
NM_000350.3(ABCA4):c.5646G>T (p.Met1882Ile) rs752160946
NM_000350.3(ABCA4):c.6386+4A>G
NM_000350.3(ABCA4):c.6658C>T (p.Gln2220Ter) rs61753046
NM_000350.3(ABCA4):c.834del (p.Asp279fs) rs779743222

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.