List of variants in gene LCT reported as likely pathogenic for Congenital lactase deficiency

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 10

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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.4363C>T (p.Arg1455Cys)	rs763006562
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.4866+2T>G
NM_002299.4(LCT):c.4950C>A (p.Ser1650Arg)	rs1312031160
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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