ClinVar Miner

List of variants studied for Congenital lactase deficiency by Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM)

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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_002299.4(LCT):c.4087G>A (p.Gly1363Ser) rs386833833 0.00001
NM_002299.4(LCT):c.1692_1696del (p.Val565fs) rs386833832
NM_002299.4(LCT):c.4419C>G (p.Tyr1473Ter) rs386833834
NM_002299.4(LCT):c.4834G>T (p.Glu1612Ter) rs386833835
NM_002299.4(LCT):c.4998_5001del (p.Ser1666fs) rs386833836
NM_002299.4(LCT):c.5387del (p.Asp1796fs) rs386833837
NM_002299.4(LCT):c.653_654del (p.Ser218fs) rs386833838

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