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
NM_001127464.2(ZNF469):c.10843C>T (p.Leu3615=) rs273585637
NM_001127464.2(ZNF469):c.2478G>T (p.Pro826=) rs273585634
NM_001127464.2(ZNF469):c.5060G>A (p.Arg1687Lys) rs281865149
NM_001127464.2(ZNF469):c.720G>A (p.Glu240=) rs273585632
NM_001127464.2(ZNF469):c.7747G>A (p.Glu2583Lys) rs281865151
NM_001127464.2(ZNF469):c.7847G>A (p.Arg2616Gln) rs281865152
NM_001127464.2(ZNF469):c.9835A>G (p.Thr3279Ala) rs273585627
NM_001127464.2(ZNF469):c.99G>A (p.Pro33=) rs273585631

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