ClinVar Miner

List of variants studied for Amelogenesis imperfecta, type 3C by OMIM

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_152222.2(RELT):c.1169_1170del (p.Pro390fs) rs772929908 0.00004
NM_152222.2(RELT):c.121-2A>G rs1565222166
NM_152222.2(RELT):c.1265G>C (p.Arg422Pro) rs762816338

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