ClinVar Miner

List of variants in gene LCT reported as likely pathogenic for carbohydrate metabolism disease

Included ClinVar conditions (161):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 8
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HGVS dbSNP
NM_002299.4(LCT):c.1692_1696del (p.Val565fs) rs386833832
NM_002299.4(LCT):c.4087G>A (p.Gly1363Ser) rs386833833
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
NM_002299.4(LCT):c.[4363C>T;4950C>A]

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