ClinVar Miner

List of variants in gene SLC16A1 studied for carbohydrate metabolism disease

Included ClinVar conditions (302):
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Gene type:
ClinVar version:
Total variants: 61
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HGVS dbSNP gnomAD frequency
NM_003051.4(SLC16A1):c.1470T>A (p.Asp490Glu) rs1049434 0.66103
NM_003051.4(SLC16A1):c.*1414C>T rs7169 0.66095
NM_003051.4(SLC16A1):c.*1942T>C rs9429505 0.31556
NM_003051.4(SLC16A1):c.362-21A>C rs201021807 0.26702
NM_003051.4(SLC16A1):c.*145T>G rs11585690 0.01723
NM_003051.4(SLC16A1):c.*1876G>C rs11811205 0.01235
NM_003051.4(SLC16A1):c.*332T>C rs41306207 0.01211
NM_003051.4(SLC16A1):c.1002G>A (p.Ala334=) rs114731222 0.00609
NM_003051.4(SLC16A1):c.973A>G (p.Ile325Val) rs116216229 0.00409
NM_003051.4(SLC16A1):c.*1281T>G rs184445532 0.00263
NM_003051.4(SLC16A1):c.-92G>T rs144301005 0.00214
NM_003051.4(SLC16A1):c.*629C>T rs540946001 0.00189
NM_003051.4(SLC16A1):c.*948G>A rs543171131 0.00129
NM_003051.4(SLC16A1):c.*104C>T rs182505461 0.00128
NM_003051.4(SLC16A1):c.*1654A>G rs761298128 0.00056
NM_003051.4(SLC16A1):c.*516C>G rs754537571 0.00048
NM_003051.4(SLC16A1):c.1282G>A (p.Val428Ile) rs536012651 0.00048
NM_003051.4(SLC16A1):c.441C>T (p.Asn147=) rs150246870 0.00031
NM_003051.4(SLC16A1):c.979C>T (p.Pro327Ser) rs77373295 0.00029
NM_003051.4(SLC16A1):c.*1624A>G rs140456426 0.00027
NM_003051.4(SLC16A1):c.1367A>T (p.Glu456Val) rs554138665 0.00021
NM_003051.4(SLC16A1):c.*603T>C rs527658261 0.00011
NM_003051.4(SLC16A1):c.*1801A>G rs750135904 0.00010
NM_003051.4(SLC16A1):c.*946G>A rs867810008 0.00006
NM_003051.4(SLC16A1):c.*657C>A rs911644501 0.00005
NM_003051.4(SLC16A1):c.*77C>T rs868304120 0.00004
NM_003051.4(SLC16A1):c.*1312G>C rs886045059 0.00003
NM_003051.4(SLC16A1):c.1117G>A (p.Val373Ile) rs200802632 0.00003
NM_003051.4(SLC16A1):c.1342T>C (p.Leu448=) rs773196238 0.00003
NM_003051.4(SLC16A1):c.1281C>T (p.Gly427=) rs779279429 0.00002
NM_003051.4(SLC16A1):c.*1018T>G rs774371594 0.00001
NM_003051.4(SLC16A1):c.*1134G>A rs778106916 0.00001
NM_003051.4(SLC16A1):c.*137A>T rs1223206132 0.00001
NM_003051.4(SLC16A1):c.*815G>A rs556305447 0.00001
NM_003051.4(SLC16A1):c.-87C>T rs886045087 0.00001
NM_003051.4(SLC16A1):c.1345G>A (p.Ala449Thr) rs756006376 0.00001
NM_003051.4(SLC16A1):c.1452G>A (p.Pro484=) rs17852382 0.00001
NM_003051.4(SLC16A1):c.295G>A (p.Gly99Ser) rs1461742764 0.00001
NM_003051.4(SLC16A1):c.404T>C (p.Ile135Thr) rs1570620206 0.00001
NM_003051.4(SLC16A1):c.540T>C (p.Ile180=) rs775755027 0.00001
NM_003051.4(SLC16A1):c.680A>G (p.His227Arg) rs549501840 0.00001
NM_003051.4(SLC16A1):c.*1044T>G rs1190989254
NM_003051.4(SLC16A1):c.*1051G>A rs886045064
NM_003051.4(SLC16A1):c.*1064G>T rs886045063
NM_003051.4(SLC16A1):c.*1071T>C rs1648368024
NM_003051.4(SLC16A1):c.*1072G>T rs886045062
NM_003051.4(SLC16A1):c.*361G>T rs1407575522
NM_003051.4(SLC16A1):c.*739T>C rs570060559
NM_003051.4(SLC16A1):c.*739T>G rs570060559
NM_003051.4(SLC16A1):c.1079C>G (p.Ala360Gly)
NM_003051.4(SLC16A1):c.1228+6G>A rs190615745
NM_003051.4(SLC16A1):c.1430T>C (p.Val477Ala) rs886045067
NM_003051.4(SLC16A1):c.328C>T (p.Gln110Ter) rs1570623881
NM_003051.4(SLC16A1):c.362-58TATT[8] rs149491709
NM_003051.4(SLC16A1):c.489C>A (p.Pro163=) rs145916504
NM_003051.4(SLC16A1):c.508G>A (p.Gly170Ser) rs200143982
NM_003051.4(SLC16A1):c.527G>A (p.Gly176Glu) rs766830652
NM_003051.4(SLC16A1):c.72T>A (p.Ile24=) rs760137043
NM_003051.4(SLC16A1):c.785G>C (p.Gly262Ala)
NM_003051.4(SLC16A1):c.982C>T (p.Arg328Ter) rs606231310
NM_003051.4(SLC16A1):c.983G>T (p.Arg328Leu) rs774823539

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