ClinVar Miner

List of variants in gene FAM20A reported as pathogenic for amelogenesis imperfecta type 1G

Included ClinVar conditions (1):
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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_017565.4(FAM20A):c.406C>T (p.Arg136Ter) rs144411158 0.00010
NM_017565.4(FAM20A):c.111_145del (p.Glu39fs) rs2143965549
NM_017565.4(FAM20A):c.188dup (p.Asp63fs)
NM_017565.4(FAM20A):c.349_367del (p.Leu117fs) rs766926330
NM_017565.4(FAM20A):c.34_35del (p.Leu12fs) rs587776911
NM_017565.4(FAM20A):c.590-2A>G rs587776914
NM_017565.4(FAM20A):c.612del (p.Leu205fs) rs587777531

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