ClinVar Miner

List of variants reported as likely pathogenic 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.9919A>G (p.Thr3307Ala) rs273585627 0.00072
NM_001367624.2(ZNF469):c.5144G>A (p.Arg1715Lys) rs281865149 0.00017
NM_001367624.2(ZNF469):c.7931G>A (p.Arg2644Gln) rs281865152 0.00010
NM_001367624.2(ZNF469):c.7831G>A (p.Glu2611Lys) rs281865151 0.00006
NM_001367624.2(ZNF469):c.99G>A (p.Pro33=) rs273585631 0.00002
NM_001367624.2(ZNF469):c.10927C>T (p.Leu3643=) rs273585637 0.00001
NM_001367624.2(ZNF469):c.2478G>T (p.Pro826=) rs273585634
NM_001367624.2(ZNF469):c.720G>A (p.Glu240=) rs273585632

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