ClinVar Miner

List of variants studied for Congenital lactase deficiency by Fulgent Genetics, Fulgent Genetics

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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_002299.4(LCT):c.2714A>G (p.Asp905Gly) rs115690016 0.01755
NM_002299.4(LCT):c.454G>A (p.Ala152Thr) rs114525655 0.01314
NM_002299.4(LCT):c.4173+5G>A rs575414951 0.00005
NM_002299.4(LCT):c.3535C>T (p.Gln1179Ter) rs749118441 0.00002
NM_002299.4(LCT):c.280G>A (p.Ala94Thr) rs139740186 0.00001

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