ClinVar Miner

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

Included ClinVar conditions (1):
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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_017565.4(FAM20A):c.1219+3_1219+6del rs2086254952
NM_017565.4(FAM20A):c.1231C>T (p.Arg411Trp) rs149970399
NM_017565.4(FAM20A):c.1361+1G>A
NM_017565.4(FAM20A):c.758A>G (p.Tyr253Cys) rs2143526006
NM_017565.4(FAM20A):c.885del (p.Thr296fs) rs1568724130
NM_017565.4(FAM20A):c.928+2T>C

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