ClinVar Miner

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

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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_001367624.2(ZNF469):c.9555C>G (p.Ala3185=) rs273585636 0.00052
NM_001367624.2(ZNF469):c.1020C>T (p.Gly340=) rs273585633 0.00022
NM_001367624.2(ZNF469):c.1627G>A (p.Gly543Ser) rs281865145 0.00010
NM_001367624.2(ZNF469):c.10573G>A (p.Glu3525Lys) rs273585628 0.00001
NM_001367624.2(ZNF469):c.6091G>A (p.Glu2031Lys) rs273585622 0.00001
NM_001367624.2(ZNF469):c.2643C>G (p.Ser881=) rs273585635
NM_001367624.2(ZNF469):c.3320G>A (p.Arg1107Gln) rs281865148
NM_001367624.2(ZNF469):c.4910G>C (p.Arg1637Pro) rs273585621

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