ClinVar Miner

List of variants studied for corneal disorder by New York Genome Center

Included ClinVar conditions (75):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_001367624.2(ZNF469):c.7102G>A (p.Gly2368Ser) rs533944505 0.00078
NM_001367624.2(ZNF469):c.8996G>T (p.Gly2999Val) rs273585625 0.00034
NM_001920.5(DCN):c.621T>G (p.Ile207Met) rs373676217 0.00014
NM_000358.3(TGFBI):c.1663C>T (p.Arg555Trp) rs121909208
NM_198252.3(GSN):c.1326-1036C>T

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