ClinVar Miner

List of variants studied for age-related macular degeneration by Genetics and Molecular Pathology, SA Pathology

Included ClinVar conditions (42):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_000350.3(ABCA4):c.2588G>C (p.Gly863Ala) rs76157638 0.00445
NM_000350.3(ABCA4):c.1609C>T (p.Arg537Cys) rs61748556 0.00003
NM_000350.3(ABCA4):c.1906C>T (p.Gln636Ter) rs145961131 0.00002
NM_000186.4(CFH):c.496C>T (p.Arg166Trp) rs746222626 0.00001
NM_000350.3(ABCA4):c.6658C>T (p.Gln2220Ter) rs61753046

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