List of variants reported as pathogenic for Congenital lactase deficiency

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Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_002299.4(LCT):c.4170T>A (p.Tyr1390Ter)	rs121908936	0.00086
NM_002299.4(LCT):c.3535C>T (p.Gln1179Ter)	rs749118441	0.00002
NM_002299.4(LCT):c.4998_5001del (p.Ser1666fs)	rs386833836
NM_002299.4(LCT):c.804G>C (p.Gln268His)	rs121908937

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