ClinVar Miner

List of variants reported as uncertain significance for Amelogenesis imperfecta type 1

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_005562.3(LAMC2):c.493C>T (p.Arg165Cys) rs142335339 0.00261
NM_000094.4(COL7A1):c.3605G>A (p.Arg1202His) rs149011081 0.00166
NM_000094.4(COL7A1):c.2440+3A>C
NM_000094.4(COL7A1):c.3785T>C (p.Met1262Thr)

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