ClinVar Miner

List of variants reported as likely benign for Cranioectodermal dysplasia

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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_052989.3(IFT122):c.2060G>A (p.Arg687Gln) rs61740161 0.07498
NM_020779.4(WDR35):c.53A>G (p.Gln18Arg) rs1060742 0.07465
NM_003239.5(TGFB3):c.-614C>T rs11466414 0.04715
NM_052989.3(IFT122):c.109-15T>C rs114298924 0.02307
NM_003239.5(TGFB3):c.-543T>A rs74448762 0.01331
NM_020779.4(WDR35):c.*1575_*1576dup rs202074829 0.01057
NM_052989.3(IFT122):c.1943A>C (p.Glu648Ala) rs144397126 0.01035
NM_052989.3(IFT122):c.1713G>T (p.Ser571=) rs150174636

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