ClinVar Miner

List of variants in gene combination LCT, LOC126806353 reported as uncertain significance for Congenital lactase deficiency

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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_002299.4(LCT):c.1113G>A (p.Arg371=) rs148142216 0.00135
NM_002299.4(LCT):c.1539G>A (p.Glu513=) rs202186209 0.00054
NM_002299.4(LCT):c.1461G>A (p.Ala487=) rs146206234 0.00043
NM_002299.4(LCT):c.1396G>T (p.Gly466Trp) rs377102890 0.00006
NM_002299.4(LCT):c.1004C>G (p.Thr335Ser) rs1428765941 0.00001
NM_002299.4(LCT):c.1116G>A (p.Ala372=) rs200277615 0.00001
NM_002299.4(LCT):c.1045G>A (p.Glu349Lys) rs886054868

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