ClinVar Miner

List of variants reported as likely pathogenic for Amelogenesis imperfecta - hypoplastic autosomal dominant - local

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_000494.4(COL17A1):c.1179del (p.Ala394fs)	rs531930614
NM_031889.3(ENAM):c.588+1dup	rs752102959
NM_031889.3(ENAM):c.92T>G (p.Leu31Arg)	rs1060499539

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