ClinVar Miner

List of variants reported as pathogenic for Keratoconus 1 by Willoughby Group, Queen's University Belfast

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Total variants: 17
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HGVS dbSNP gnomAD frequency
NM_001367624.2(ZNF469):c.2699C>T (p.Pro900Leu) rs273585618 0.00093
NM_001367624.2(ZNF469):c.8996G>T (p.Gly2999Val) rs273585625 0.00034
NM_001367624.2(ZNF469):c.6179C>A (p.Ser2060Tyr) rs273585623 0.00026
NM_001367624.2(ZNF469):c.6809C>A (p.Ser2270Tyr) rs273585624 0.00010
NM_001367624.2(ZNF469):c.11185G>A (p.Gly3729Ser) rs273585629 0.00009
NM_001367624.2(ZNF469):c.2063C>A (p.Thr688Asn) rs281865146 0.00004
NM_001367624.2(ZNF469):c.290C>T (p.Pro97Leu) rs273585617 0.00004
NM_001367624.2(ZNF469):c.3119A>C (p.Lys1040Thr) rs273585619 0.00002
NM_001367624.2(ZNF469):c.11699C>T (p.Pro3900Leu) rs273585630 0.00001
NM_001367624.2(ZNF469):c.337G>A (p.Glu113Lys) rs281865144 0.00001
NM_001367624.2(ZNF469):c.9131C>T (p.Thr3044Met) rs273585626 0.00001
NM_001367624.2(ZNF469):c.2699C>G (p.Pro900Arg) rs273585618
NM_001367624.2(ZNF469):c.2898GTCGGG[1] (p.967SG[1]) rs281865147
NM_001367624.2(ZNF469):c.4447G>T (p.Ala1483Ser) rs273585620
NM_001367624.2(ZNF469):c.5681A>T (p.Gln1894Leu) rs281865150
NM_001367624.2(ZNF469):c.77G>C (p.Ser26Thr) rs273585616
NM_001367624.2(ZNF469):c.9095_9109del (p.Leu3032_Thr3036del) rs281865162

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