ClinVar Miner

List of variants in gene LCT studied for Congenital lactase deficiency

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Total variants: 117
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HGVS dbSNP gnomAD frequency
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.582C>T (p.Thr194=) rs2236783 0.51423
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.4329C>T (p.Gly1443=) rs3739022 0.15421
NM_002299.4(LCT):c.4977-26T>C rs3213891 0.03191
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.301A>G (p.Ser101Gly) rs35837297 0.00812
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.4866+12C>T rs191207394 0.00190
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.30T>C (p.Ile10=) rs150024239 0.00150
NM_002299.4(LCT):c.3597G>A (p.Ala1199=) rs79326512 0.00148
NM_002299.4(LCT):c.*235C>T rs116002539 0.00111
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.4170T>A (p.Tyr1390Ter) rs121908936 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.2760C>T (p.Gly920=) rs200579267 0.00043
NM_002299.4(LCT):c.3285C>T (p.His1095=) rs372534937 0.00034
NM_002299.4(LCT):c.840C>T (p.Asn280=) rs150722551 0.00025
NM_002299.4(LCT):c.2898C>A (p.Leu966=) rs143975097 0.00021
NM_002299.4(LCT):c.4776C>T (p.Gly1592=) rs183168007 0.00021
NM_002299.4(LCT):c.4362T>G (p.Ser1454=) rs776712928 0.00015
NM_002299.4(LCT):c.*230T>C rs749324196 0.00013
NM_002299.4(LCT):c.21A>G (p.Val7=) rs377228457 0.00011
NM_002299.4(LCT):c.5656G>A (p.Val1886Ile) rs376732886 0.00011
NM_002299.4(LCT):c.2293C>A (p.Leu765Ile) rs374623829 0.00009
NM_002299.4(LCT):c.2310A>C (p.Leu770Phe) rs148593528 0.00009
NM_002299.4(LCT):c.4760G>A (p.Arg1587His) rs146614143 0.00006
NM_002299.4(LCT):c.4761C>T (p.Arg1587=) rs573401319 0.00006
NM_002299.4(LCT):c.4173+5G>A rs575414951 0.00005
NM_002299.4(LCT):c.4224G>A (p.Thr1408=) rs199901583 0.00004
NM_002299.4(LCT):c.1780C>G (p.Gln594Glu) rs886054867 0.00003
NM_002299.4(LCT):c.3450C>T (p.Ser1150=) rs777067647 0.00003
NM_002299.4(LCT):c.5335+5G>A rs747065034 0.00003
NM_002299.4(LCT):c.5391T>C (p.Asn1797=) rs145827881 0.00003
NM_002299.4(LCT):c.5493C>T (p.Tyr1831=) rs369410973 0.00003
NM_002299.4(LCT):c.725C>T (p.Thr242Met) rs757179373 0.00003
NM_002299.4(LCT):c.89C>T (p.Ser30Phe) rs368308800 0.00003
NM_002299.4(LCT):c.2618C>T (p.Pro873Leu) rs367727872 0.00002
NM_002299.4(LCT):c.3535C>T (p.Gln1179Ter) rs749118441 0.00002
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.4198G>A (p.Gly1400Ser) rs988407821 0.00002
NM_002299.4(LCT):c.4714A>T (p.Ile1572Leu) rs757978538 0.00002
NM_002299.4(LCT):c.5723G>A (p.Arg1908His) rs577825311 0.00002
NM_002299.4(LCT):c.*275A>G rs1008625417 0.00001
NM_002299.4(LCT):c.1902C>T (p.Pro634=) rs202014246 0.00001
NM_002299.4(LCT):c.1931C>T (p.Thr644Ile) rs546741050 0.00001
NM_002299.4(LCT):c.2177G>A (p.Arg726His) rs886054866 0.00001
NM_002299.4(LCT):c.280G>A (p.Ala94Thr) rs139740186 0.00001
NM_002299.4(LCT):c.319G>A (p.Glu107Lys) rs761296720 0.00001
NM_002299.4(LCT):c.3483C>T (p.Asn1161=) rs143927262 0.00001
NM_002299.4(LCT):c.3599C>T (p.Thr1200Met) rs148317168 0.00001
NM_002299.4(LCT):c.4087G>A (p.Gly1363Ser) rs386833833 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.5655C>T (p.Tyr1885=) rs1483785677 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.677T>C (p.Ile226Thr) rs747805112 0.00001
NM_002299.4(LCT):c.*193C>T rs1189424123
NM_002299.4(LCT):c.*239C>T rs16832012
NM_002299.4(LCT):c.*251G>A rs886054860
NM_002299.4(LCT):c.*442GT[1] rs140433552
NM_002299.4(LCT):c.122A>C (p.His41Pro) rs757541640
NM_002299.4(LCT):c.1692_1696del (p.Val565fs) rs386833832
NM_002299.4(LCT):c.2349C>T (p.Leu783=) rs2077740890
NM_002299.4(LCT):c.2718C>T (p.Asp906=) rs1454730571
NM_002299.4(LCT):c.2819G>A (p.Gly940Glu) rs2077714482
NM_002299.4(LCT):c.2969G>T (p.Ser990Ile) rs201881537
NM_002299.4(LCT):c.2983C>T (p.His995Tyr) rs1261476069
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.3655C>G (p.Pro1219Ala) rs138785223
NM_002299.4(LCT):c.3666C>A (p.Asn1222Lys) rs2077699049
NM_002299.4(LCT):c.3804C>A (p.Pro1268=) rs748206266
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.4363C>T (p.Arg1455Cys) rs763006562
NM_002299.4(LCT):c.4404G>A (p.Ala1468=) rs151321629
NM_002299.4(LCT):c.4419C>G (p.Tyr1473Ter) rs386833834
NM_002299.4(LCT):c.4434T>C (p.Asp1478=) rs778761405
NM_002299.4(LCT):c.4447G>T (p.Ala1483Ser) rs139591272
NM_002299.4(LCT):c.4664-10A>G rs1575334525
NM_002299.4(LCT):c.4695C>T (p.Tyr1565=) rs886054862
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.54G>C (p.Trp18Cys) rs886054870
NM_002299.4(LCT):c.5563+7T>C rs2077518427
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.653_654del (p.Ser218fs) rs386833838
NM_002299.4(LCT):c.655G>A (p.Val219Ile) rs3754689
NM_002299.4(LCT):c.729C>G (p.Val243=) rs3816088
NM_002299.4(LCT):c.804G>C (p.Gln268His) rs121908937

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