ClinVar Miner

List of variants studied for Lactose intolerance by Illumina Laboratory Services, Illumina

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Total variants: 61
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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.1650C>G (p.Gly550=) rs35093754 0.05209
NM_002299.4(LCT):c.2714A>G (p.Asp905Gly) rs115690016 0.01755
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.*429A>C rs77631953 0.01053
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.3006G>A (p.Arg1002=) rs114815229 0.00558
NM_002299.4(LCT):c.*10A>C rs200994158 0.00375
NM_002299.4(LCT):c.2763G>A (p.Ala921=) rs116951780 0.00313
NM_002299.4(LCT):c.3341A>G (p.Gln1114Arg) rs148838160 0.00178
NM_002299.4(LCT):c.4576C>T (p.Leu1526=) rs140074771 0.00178
NM_002299.4(LCT):c.2457C>T (p.His819=) rs149425549 0.00168
NM_002299.4(LCT):c.3848C>T (p.Thr1283Met) rs147755711 0.00090
NM_002299.4(LCT):c.2883C>T (p.Ala961=) rs140994860 0.00086
NM_002299.4(LCT):c.4026G>A (p.Thr1342=) rs150640616 0.00085
NM_002299.4(LCT):c.4646A>G (p.Tyr1549Cys) rs147495948 0.00082
NM_002299.4(LCT):c.3286G>A (p.Ala1096Thr) rs146467199 0.00066
NM_002299.4(LCT):c.1461G>A (p.Ala487=) rs146206234 0.00043
NM_002299.4(LCT):c.2760C>T (p.Gly920=) rs200579267 0.00043
NM_002299.4(LCT):c.3285C>T (p.His1095=) rs372534937 0.00034
NM_002299.4(LCT):c.*230T>C rs749324196 0.00013
NM_002299.4(LCT):c.5656G>A (p.Val1886Ile) rs376732886 0.00011
NM_002299.4(LCT):c.1396G>T (p.Gly466Trp) rs377102890 0.00006
NM_002299.4(LCT):c.1780C>G (p.Gln594Glu) rs886054867 0.00003
NM_002299.4(LCT):c.5493C>T (p.Tyr1831=) rs369410973 0.00003
NM_002299.4(LCT):c.3759G>A (p.Thr1253=) rs764860323 0.00002
NM_002299.4(LCT):c.3986C>T (p.Thr1329Met) rs555708380 0.00002
NM_002299.4(LCT):c.1902C>T (p.Pro634=) rs202014246 0.00001
NM_002299.4(LCT):c.2177G>A (p.Arg726His) rs886054866 0.00001
NM_002299.4(LCT):c.319G>A (p.Glu107Lys) rs761296720 0.00001
NM_002299.4(LCT):c.3599C>T (p.Thr1200Met) rs148317168 0.00001
NM_002299.4(LCT):c.4922T>C (p.Val1641Ala) rs557029000 0.00001
NM_002299.4(LCT):c.5529C>T (p.Pro1843=) rs761696901 0.00001
NM_002299.4(LCT):c.5771T>C (p.Val1924Ala) rs886054861 0.00001
NM_002299.4(LCT):c.643G>A (p.Gly215Arg) rs886054869 0.00001
NM_002299.4(LCT):c.*251G>A rs886054860
NM_002299.4(LCT):c.*442GT[1] rs140433552
NM_002299.4(LCT):c.1045G>A (p.Glu349Lys) rs886054868
NM_002299.4(LCT):c.318C>T (p.Asp106=) rs34307240
NM_002299.4(LCT):c.3390G>A (p.Glu1130=) rs886054865
NM_002299.4(LCT):c.3532C>T (p.Leu1178=) rs886054864
NM_002299.4(LCT):c.3595G>A (p.Ala1199Thr) rs886054863
NM_002299.4(LCT):c.4122C>T (p.Tyr1374=) rs557321611
NM_002299.4(LCT):c.4173+6_4173+8del rs375300532
NM_002299.4(LCT):c.4239A>G (p.Pro1413=) rs752925060
NM_002299.4(LCT):c.4434T>C (p.Asp1478=) rs778761405
NM_002299.4(LCT):c.4695C>T (p.Tyr1565=) rs886054862
NM_002299.4(LCT):c.54G>C (p.Trp18Cys) rs886054870
NM_002299.4(LCT):c.5768C>A (p.Pro1923Gln) rs114828879
NM_002299.4(LCT):c.621C>T (p.His207=) rs369174474
NM_002299.4(LCT):c.655G>A (p.Val219Ile) rs3754689
NM_002299.4(LCT):c.729C>G (p.Val243=) rs3816088

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