ClinVar Miner

List of variants reported as likely benign for Amelogenesis Imperfecta, Recessive

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Total variants: 24
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HGVS dbSNP gnomAD frequency
NM_182758.4(WDR72):c.917C>T (p.Pro306Leu) rs551225 0.37615
NM_182758.4(WDR72):c.2455C>T (p.Leu819Phe) rs17730281 0.21505
NM_182758.4(WDR72):c.*1279G>C rs3206108 0.16804
NM_182758.4(WDR72):c.*2356C>T rs3088091 0.16638
NM_182758.4(WDR72):c.2497T>G (p.Ser833Ala) rs16966320 0.14043
NM_182758.4(WDR72):c.2341A>G (p.Lys781Glu) rs60404950 0.13988
NM_182758.4(WDR72):c.2724A>G (p.Leu908=) rs16966318 0.13977
NM_182758.4(WDR72):c.*1734T>C rs72745124 0.09075
NM_182758.4(WDR72):c.*3114A>G rs72745122 0.09038
NM_182758.4(WDR72):c.*1533C>T rs7182198 0.07198
NM_182758.4(WDR72):c.-7G>A rs496290 0.06705
NM_182758.4(WDR72):c.*572C>G rs16966157 0.06024
NM_182758.4(WDR72):c.*3936G>A rs6493630 0.05998
NM_182758.4(WDR72):c.*1145T>G rs74015392 0.04869
NM_182758.4(WDR72):c.*3742G>C rs79708164 0.04402
NM_182758.4(WDR72):c.*1478A>T rs76317515 0.03355
NM_182758.4(WDR72):c.*993T>A rs78118351 0.03342
NM_182758.4(WDR72):c.*499G>T rs74015396 0.03211
NM_182758.4(WDR72):c.*2675A>G rs181220553 0.01437
NM_182758.4(WDR72):c.1839G>A (p.Val613=) rs78493456 0.01140
NM_182758.4(WDR72):c.*3164T>C rs143400580 0.00505
NM_182758.4(WDR72):c.*1664G>T rs10518724
NM_182758.4(WDR72):c.261-8del rs34828731
NM_182758.4(WDR72):c.3149-30CT[13] rs57737580

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