ClinVar Miner

List of variants studied for age-related macular degeneration by GenomeConnect, ClinGen

Included ClinVar conditions (42):
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.455G>A (p.Arg152Gln) rs62646862 0.00276
NM_000350.3(ABCA4):c.5882G>A (p.Gly1961Glu) rs1800553 0.00269
NM_000350.3(ABCA4):c.1532G>A (p.Arg511His) rs140482171 0.00037
NM_000350.3(ABCA4):c.5714+5G>A rs61751407 0.00036
NM_006017.3(PROM1):c.2112C>T (p.Arg704=) rs375358457 0.00036
NM_178857.6(RP1L1):c.2927C>T (p.Ala976Val) rs200854148 0.00013
NM_000350.3(ABCA4):c.4469G>A (p.Cys1490Tyr) rs61751402 0.00006

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