ClinVar Miner

List of variants studied for ABCA4-related retinopathy by Neuberg Centre For Genomic Medicine, NCGM

Included ClinVar conditions (14):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_000350.3(ABCA4):c.5882G>A (p.Gly1961Glu) rs1800553 0.00269
NM_000350.3(ABCA4):c.6119G>A (p.Arg2040Gln) rs148460146 0.00024
NM_000350.3(ABCA4):c.634C>T (p.Arg212Cys) rs61750200 0.00008
NM_000350.3(ABCA4):c.5917del (p.Gly1972_Val1973insTer) rs61751389 0.00001
NM_000350.3(ABCA4):c.6088C>T (p.Arg2030Ter) rs61751383 0.00001
NM_000350.3(ABCA4):c.6445C>T (p.Arg2149Ter) rs61750654 0.00001
NM_000350.3(ABCA4):c.6658C>T (p.Gln2220Ter) rs61753046 0.00001
NM_000350.3(ABCA4):c.885del (p.Leu296fs) rs764759172 0.00001
NM_000350.3(ABCA4):c.5371dup (p.Ala1791fs) rs2523668736
NM_000350.3(ABCA4):c.6083C>G (p.Thr2028Arg)

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