ClinVar Miner

List of variants reported as pathogenic for Amelogenesis imperfecta type 1G

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Total variants: 15
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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.813-2A>G rs587776912 0.00003
NM_017565.4(FAM20A):c.826C>T (p.Arg276Ter) rs387907215 0.00001
NM_001276290.1(PRKAR1A):c.973+4267_974-9286del
NM_017565.4(FAM20A):c.1109+3_1109+7delinsTGGTC rs2143495812
NM_017565.4(FAM20A):c.111_145del (p.Glu39fs) rs2143965549
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.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
NM_017565.4(FAM20A):c.720-2A>G rs587777530
NM_017565.4(FAM20A):c.915_918del (p.Phe305fs) rs760163489
NM_017565.4(FAM20A):c.[129del;734_735del]

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