ClinVar Miner

List of variants reported as uncertain significance for age-related macular degeneration by Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet

Included ClinVar conditions (40):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_000350.3(ABCA4):c.6319C>T (p.Arg2107Cys) rs2297669 0.00004
NM_000350.3(ABCA4):c.4069G>A (p.Ala1357Thr) rs754899711 0.00001
NM_000350.3(ABCA4):c.4539+2066C>G rs1571261864
NM_000350.3(ABCA4):c.4679T>A (p.Ile1560Asn) rs1571258567
NM_000350.3(ABCA4):c.4842C>G (p.Asn1614Lys) rs1265079301
NM_004183.4(BEST1):c.95T>C (p.Leu32Pro) rs1591266591
NM_014014.5(SNRNP200):c.210-5A>G rs745775178

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