ClinVar Miner

List of variants reported as uncertain significance for age-related macular degeneration by DBGen Ocular Genomics

Included ClinVar conditions (42):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_000350.3(ABCA4):c.1522C>T (p.Arg508Cys) rs138157885 0.00011
NM_000350.3(ABCA4):c.2744-402G>A rs1251023127 0.00001
NM_000186.4(CFH):c.752G>A (p.Cys251Tyr)
NM_000350.3(ABCA4):c.1356+4dup rs1661600677
NM_000350.3(ABCA4):c.3415T>G (p.Tyr1139Asp) rs2101048577
NM_000350.3(ABCA4):c.4540-1573C>T
NM_000350.3(ABCA4):c.4774-9G>A rs2101023661
NM_000350.3(ABCA4):c.570+1818G>T
NM_000350.3(ABCA4):c.5714+103A>G

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