ClinVar Miner

List of variants studied for corneal disorder by MGZ Medical Genetics Center

Included ClinVar conditions (75):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_021615.5(CHST6):c.599T>G (p.Leu200Arg) rs28937879 0.00022
NM_001367624.2(ZNF469):c.7195C>T (p.Pro2399Ser) rs759032227 0.00008
NM_021615.5(CHST6):c.997T>C (p.Trp333Arg) rs758657734 0.00002
NM_000358.3(TGFBI):c.1663C>T (p.Arg555Trp) rs121909208
NM_000494.4(COL17A1):c.2011G>A (p.Gly671Ser)
NM_001367624.2(ZNF469):c.725_726delinsTT (p.Ser242Ile) rs886043704
NM_021615.5(CHST6):c.1052_1059dup (p.Gln354fs)

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