ClinVar Miner

List of variants reported as pathogenic for Congenital lactase deficiency

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Total variants: 3
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HGVS dbSNP
LCT, 4-BP DEL, NT4998
NM_002299.4(LCT):c.4170T>A (p.Tyr1390Ter) rs121908936
NM_002299.4(LCT):c.804G>C (p.Gln268His) rs121908937

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