ClinVar Miner

List of variants in gene combination FAM20A, PRKAR1A reported as pathogenic for amelogenesis imperfecta type 1G

Included ClinVar conditions (1):
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Total variants: 5
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HGVS dbSNP
NM_017565.4(FAM20A):c.1175_1179del (p.Arg392fs) rs587776913
NM_017565.4(FAM20A):c.1432C>T (p.Arg478Ter) rs139620139
NM_017565.4(FAM20A):c.720-2A>G rs587777530
NM_017565.4(FAM20A):c.813-2A>G rs587776912
NM_017565.4(FAM20A):c.826C>T (p.Arg276Ter) rs387907215

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