ClinVar Miner

List of variants reported as benign for Congenital lactase deficiency by Illumina Laboratory Services, Illumina

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Total variants: 17
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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.*50G>C rs1042712 0.78588
NM_002299.4(LCT):c.4606C>T (p.Leu1536=) rs2304371 0.69539
NM_002299.4(LCT):c.5568T>C (p.Ala1856=) rs2278544 0.60314
NM_002299.4(LCT):c.4916A>G (p.Asn1639Ser) rs2322659 0.59219
NM_002299.4(LCT):c.1419C>A (p.Gly473=) rs6719488 0.51566
NM_002299.4(LCT):c.582C>T (p.Thr194=) rs2236783 0.51423
NM_002299.4(LCT):c.4329C>T (p.Gly1443=) rs3739022 0.15421
NM_002299.4(LCT):c.454G>A (p.Ala152Thr) rs114525655 0.01314
NM_002299.4(LCT):c.*325G>C rs62170085 0.01267
NM_002299.4(LCT):c.301A>G (p.Ser101Gly) rs35837297 0.00812
NM_002299.4(LCT):c.1318G>A (p.Val440Ile) rs35940156 0.00802
NM_002299.4(LCT):c.4347T>C (p.Phe1449=) rs17699796 0.00774
NM_002299.4(LCT):c.4777G>A (p.Val1593Met) rs35891837 0.00726
NM_002299.4(LCT):c.2763G>A (p.Ala921=) rs116951780 0.00313
NM_002299.4(LCT):c.318C>T (p.Asp106=) rs34307240
NM_002299.4(LCT):c.655G>A (p.Val219Ile) rs3754689

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