ClinVar Miner

List of variants in gene LCT studied for carbohydrate metabolism disease

Included ClinVar conditions (161):
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Gene type:
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Total variants: 123
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HGVS dbSNP
LCT, 4-BP DEL, NT4998
NM_002299.4(LCT):c.*10A>C rs200994158
NM_002299.4(LCT):c.*193C>T
NM_002299.4(LCT):c.*230T>C rs749324196
NM_002299.4(LCT):c.*235C>T
NM_002299.4(LCT):c.*239C>T
NM_002299.4(LCT):c.*251G>A rs886054860
NM_002299.4(LCT):c.*275A>G
NM_002299.4(LCT):c.*325G>C rs62170085
NM_002299.4(LCT):c.*429A>C rs77631953
NM_002299.4(LCT):c.*442_*443GT[1] rs140433552
NM_002299.4(LCT):c.*50G>C rs1042712
NM_002299.4(LCT):c.1004C>G (p.Thr335Ser)
NM_002299.4(LCT):c.1045G>A (p.Glu349Lys) rs886054868
NM_002299.4(LCT):c.1084A>G (p.Ile362Val) rs4954449
NM_002299.4(LCT):c.1113G>A (p.Arg371=) rs148142216
NM_002299.4(LCT):c.1116G>A (p.Ala372=)
NM_002299.4(LCT):c.122A>C (p.His41Pro)
NM_002299.4(LCT):c.1318G>A (p.Val440Ile) rs35940156
NM_002299.4(LCT):c.1396G>T (p.Gly466Trp) rs377102890
NM_002299.4(LCT):c.1419C>A (p.Gly473=) rs6719488
NM_002299.4(LCT):c.1461G>A (p.Ala487=) rs146206234
NM_002299.4(LCT):c.1539G>A (p.Glu513=)
NM_002299.4(LCT):c.1617C>T (p.Thr539=)
NM_002299.4(LCT):c.1650C>G (p.Gly550=) rs35093754
NM_002299.4(LCT):c.1692_1696del (p.Val565fs) rs386833832
NM_002299.4(LCT):c.1780C>G (p.Gln594Glu) rs886054867
NM_002299.4(LCT):c.1902C>T (p.Pro634=) rs202014246
NM_002299.4(LCT):c.1931C>T (p.Thr644Ile)
NM_002299.4(LCT):c.2177G>A (p.Arg726His) rs886054866
NM_002299.4(LCT):c.21A>G (p.Val7=)
NM_002299.4(LCT):c.2293C>A (p.Leu765Ile)
NM_002299.4(LCT):c.2310A>C (p.Leu770Phe)
NM_002299.4(LCT):c.2349C>T (p.Leu783=)
NM_002299.4(LCT):c.2457C>T (p.His819=) rs149425549
NM_002299.4(LCT):c.2618C>T (p.Pro873Leu)
NM_002299.4(LCT):c.2714A>G (p.Asp905Gly) rs115690016
NM_002299.4(LCT):c.2718C>T (p.Asp906=)
NM_002299.4(LCT):c.2760C>T (p.Gly920=) rs200579267
NM_002299.4(LCT):c.2763G>A (p.Ala921=) rs116951780
NM_002299.4(LCT):c.280G>A (p.Ala94Thr)
NM_002299.4(LCT):c.2819G>A (p.Gly940Glu)
NM_002299.4(LCT):c.2883C>T (p.Ala961=) rs140994860
NM_002299.4(LCT):c.2898C>A (p.Leu966=)
NM_002299.4(LCT):c.2969G>T (p.Ser990Ile)
NM_002299.4(LCT):c.2983C>T (p.His995Tyr)
NM_002299.4(LCT):c.3006G>A (p.Arg1002=) rs114815229
NM_002299.4(LCT):c.301A>G (p.Ser101Gly) rs35837297
NM_002299.4(LCT):c.30T>C (p.Ile10=)
NM_002299.4(LCT):c.318C>T (p.Asp106=) rs34307240
NM_002299.4(LCT):c.319G>A (p.Glu107Lys) rs761296720
NM_002299.4(LCT):c.3285C>T (p.His1095=) rs372534937
NM_002299.4(LCT):c.3286G>A (p.Ala1096Thr) rs146467199
NM_002299.4(LCT):c.3341A>G (p.Gln1114Arg) rs148838160
NM_002299.4(LCT):c.3390G>A (p.Glu1130=) rs886054865
NM_002299.4(LCT):c.3450C>T (p.Ser1150=)
NM_002299.4(LCT):c.3483C>T (p.Asn1161=)
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.3597G>A (p.Ala1199=) rs79326512
NM_002299.4(LCT):c.3599C>T (p.Thr1200Met) rs148317168
NM_002299.4(LCT):c.3655C>G (p.Pro1219Ala)
NM_002299.4(LCT):c.3666C>A (p.Asn1222Lys)
NM_002299.4(LCT):c.3759G>A (p.Thr1253=) rs764860323
NM_002299.4(LCT):c.3804C>A (p.Pro1268=)
NM_002299.4(LCT):c.3848C>T (p.Thr1283Met) rs147755711
NM_002299.4(LCT):c.3986C>T (p.Thr1329Met) rs555708380
NM_002299.4(LCT):c.4026G>A (p.Thr1342=) rs150640616
NM_002299.4(LCT):c.4087G>A (p.Gly1363Ser) rs386833833
NM_002299.4(LCT):c.4122C>T (p.Tyr1374=) rs557321611
NM_002299.4(LCT):c.4170T>A (p.Tyr1390Ter) rs121908936
NM_002299.4(LCT):c.4173+5G>A
NM_002299.4(LCT):c.4173+6_4173+8del rs375300532
NM_002299.4(LCT):c.4224G>A (p.Thr1408=)
NM_002299.4(LCT):c.4239A>G (p.Pro1413=) rs752925060
NM_002299.4(LCT):c.4329C>T (p.Gly1443=) rs3739022
NM_002299.4(LCT):c.4347T>C (p.Phe1449=) rs17699796
NM_002299.4(LCT):c.4362T>G (p.Ser1454=)
NM_002299.4(LCT):c.4404G>A (p.Ala1468=)
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)
NM_002299.4(LCT):c.454G>A (p.Ala152Thr) rs114525655
NM_002299.4(LCT):c.4576C>T (p.Leu1526=) rs140074771
NM_002299.4(LCT):c.4606C>T (p.Leu1536=) rs2304371
NM_002299.4(LCT):c.4646A>G (p.Tyr1549Cys) rs147495948
NM_002299.4(LCT):c.4664-10A>G
NM_002299.4(LCT):c.4695C>T (p.Tyr1565=) rs886054862
NM_002299.4(LCT):c.4714A>T (p.Ile1572Leu)
NM_002299.4(LCT):c.4760G>A (p.Arg1587His) rs146614143
NM_002299.4(LCT):c.4761C>T (p.Arg1587=)
NM_002299.4(LCT):c.4776C>T (p.Gly1592=)
NM_002299.4(LCT):c.4777G>A (p.Val1593Met) rs35891837
NM_002299.4(LCT):c.4834G>T (p.Glu1612Ter) rs386833835
NM_002299.4(LCT):c.4866+12C>T
NM_002299.4(LCT):c.4916A>G (p.Asn1639Ser) rs2322659
NM_002299.4(LCT):c.4922T>C (p.Val1641Ala) rs557029000
NM_002299.4(LCT):c.4998_5001del (p.Ser1666fs) rs386833836
NM_002299.4(LCT):c.5335+5G>A
NM_002299.4(LCT):c.5387del (p.Asp1796fs) rs386833837
NM_002299.4(LCT):c.5391T>C (p.Asn1797=)
NM_002299.4(LCT):c.5493C>T (p.Tyr1831=) rs369410973
NM_002299.4(LCT):c.54G>C (p.Trp18Cys) rs886054870
NM_002299.4(LCT):c.5529C>T (p.Pro1843=) rs761696901
NM_002299.4(LCT):c.5563+7T>C
NM_002299.4(LCT):c.5568T>C (p.Ala1856=) rs2278544
NM_002299.4(LCT):c.5655C>T (p.Tyr1885=)
NM_002299.4(LCT):c.5656G>A (p.Val1886Ile) rs376732886
NM_002299.4(LCT):c.5723G>A (p.Arg1908His)
NM_002299.4(LCT):c.5768C>A (p.Pro1923Gln) rs114828879
NM_002299.4(LCT):c.5771T>C (p.Val1924Ala) rs886054861
NM_002299.4(LCT):c.582C>T (p.Thr194=) rs2236783
NM_002299.4(LCT):c.621C>T (p.His207=) rs369174474
NM_002299.4(LCT):c.643G>A (p.Gly215Arg) rs886054869
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.677T>C (p.Ile226Thr)
NM_002299.4(LCT):c.725C>T (p.Thr242Met)
NM_002299.4(LCT):c.729C>G (p.Val243=) rs3816088
NM_002299.4(LCT):c.804G>C (p.Gln268His) rs121908937
NM_002299.4(LCT):c.840C>T (p.Asn280=)
NM_002299.4(LCT):c.89C>T (p.Ser30Phe)
NM_002299.4(LCT):c.[4363C>T;4950C>A]

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