ClinVar Miner

List of variants studied for Congenital lactase deficiency by Genome-Nilou Lab

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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_002299.4(LCT):c.1084A>G (p.Ile362Val) rs4954449 0.97993
NM_002299.4(LCT):c.4606C>T (p.Leu1536=) rs2304371 0.69539
NM_002299.4(LCT):c.4916A>G (p.Asn1639Ser) rs2322659 0.59219
NM_002299.4(LCT):c.4465-37C>T rs2304370 0.23782
NM_002299.4(LCT):c.5111+23C>T rs3213890 0.18490
NM_002299.4(LCT):c.4977-26T>C rs3213891 0.03191
NM_002299.4(LCT):c.655G>A (p.Val219Ile) rs3754689

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