ClinVar Miner

List of variants reported as likely pathogenic for Congenital lactase deficiency by Equipe Genetique des Anomalies du Developpement, Université de Bourgogne

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Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_002299.4(LCT):c.4363C>T (p.Arg1455Cys) rs763006562
NM_002299.4(LCT):c.4950C>A (p.Ser1650Arg) rs1312031160

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