ClinVar Miner

List of variants studied for amelogenesis imperfecta type 1G by OMIM

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 9
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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.32_33CT[1] (p.Leu12fs) rs587776911
NM_017565.4(FAM20A):c.406C>T (p.Arg136Ter) rs144411158
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.813-2A>G rs587776912
NM_017565.4(FAM20A):c.826C>T (p.Arg276Ter) rs387907215

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