ClinVar Miner

List of variants reported as likely benign for amelogenesis imperfecta hypomaturation type 2A3

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 16
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HGVS dbSNP gnomAD frequency
NM_182758.4(WDR72):c.1839G>A (p.Val613=) rs78493456 0.01140
NM_182758.4(WDR72):c.1437A>C (p.Gln479His) rs34123953 0.01023
NM_182758.4(WDR72):c.857+9A>C rs139139066 0.00974
NM_182758.4(WDR72):c.*588G>A rs140879069 0.00936
NM_182758.4(WDR72):c.*3575T>C rs193055203 0.00834
NM_182758.4(WDR72):c.*3433G>A rs13329257 0.00827
NM_182758.4(WDR72):c.*3325G>A rs74015387 0.00744
NM_182758.4(WDR72):c.*3592A>G rs111488180 0.00592
NM_182758.4(WDR72):c.*852G>A rs112576390 0.00577
NM_182758.4(WDR72):c.*2947A>T rs74015388 0.00572
NM_182758.4(WDR72):c.*647G>A rs78618140 0.00478
NM_182758.4(WDR72):c.2598A>G (p.Lys866=) rs115484883 0.00442
NM_182758.4(WDR72):c.*3689A>G rs74871423 0.00094
NM_182758.4(WDR72):c.2942A>G (p.Gln981Arg) rs188590145 0.00053
NM_182758.4(WDR72):c.*3734A>G rs371978233 0.00002
NM_182758.4(WDR72):c.3149-30CT[13] rs57737580

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