ClinVar Miner

List of variants in gene SLC1A1 reported as uncertain significance for amino acid metabolism disease

Included ClinVar conditions (436):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 89
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HGVS dbSNP gnomAD frequency
NM_004170.6(SLC1A1):c.*948G>A rs138843378 0.00466
NM_004170.6(SLC1A1):c.*355A>T rs113770028 0.00256
NM_004170.6(SLC1A1):c.*253A>G rs141026843 0.00225
NM_004170.6(SLC1A1):c.*1393C>T rs182728102 0.00194
NM_004170.6(SLC1A1):c.*629C>T rs550214254 0.00191
NM_004170.6(SLC1A1):c.920T>C (p.Ile307Thr) rs34342853 0.00179
NM_004170.6(SLC1A1):c.633C>T (p.Asn211=) rs143022823 0.00156
NM_004170.6(SLC1A1):c.*1215T>C rs192121194 0.00096
NM_004170.6(SLC1A1):c.1227T>C (p.Ala409=) rs147404292 0.00086
NM_004170.6(SLC1A1):c.*1545T>A rs570678801 0.00078
NM_004170.6(SLC1A1):c.311T>C (p.Ile104Thr) rs147832850 0.00074
NM_004170.6(SLC1A1):c.*887T>C rs182923521 0.00051
NM_004170.6(SLC1A1):c.*726G>A rs573900670 0.00048
NM_004170.6(SLC1A1):c.*2G>A rs148981203 0.00038
NM_004170.6(SLC1A1):c.*438T>C rs886063969 0.00029
NM_004170.6(SLC1A1):c.1200G>A (p.Thr400=) rs144334183 0.00027
NM_004170.6(SLC1A1):c.123C>T (p.His41=) rs142272329 0.00027
NM_004170.6(SLC1A1):c.*849G>A rs756636073 0.00016
NM_004170.6(SLC1A1):c.*406G>T rs180881078 0.00012
NM_004170.6(SLC1A1):c.1346T>C (p.Met449Thr) rs200971678 0.00012
NM_004170.6(SLC1A1):c.*1063A>G rs886063974 0.00011
NM_004170.6(SLC1A1):c.*1597T>C rs886063979 0.00010
NM_004170.6(SLC1A1):c.*719T>A rs886063972 0.00010
NM_004170.6(SLC1A1):c.578C>T (p.Ser193Phe) rs368929720 0.00010
NM_004170.6(SLC1A1):c.1231G>A (p.Val411Met) rs199813988 0.00009
NM_004170.6(SLC1A1):c.519C>T (p.Ser173=) rs183300590 0.00008
NM_004170.6(SLC1A1):c.768-4C>G rs368368579 0.00007
NM_004170.6(SLC1A1):c.*1100T>C rs886063976 0.00006
NM_004170.6(SLC1A1):c.*614T>C rs886063970 0.00006
NM_004170.6(SLC1A1):c.1398C>T (p.Ser466=) rs141295405 0.00006
NM_004170.6(SLC1A1):c.807G>A (p.Lys269=) rs142234531 0.00006
NM_004170.6(SLC1A1):c.1071C>T (p.Phe357=) rs372708972 0.00005
NM_004170.6(SLC1A1):c.*425T>C rs886063968 0.00004
NM_004170.6(SLC1A1):c.520G>A (p.Asp174Asn) rs754854560 0.00004
NM_004170.6(SLC1A1):c.583-11T>G rs370778464 0.00004
NM_004170.6(SLC1A1):c.961G>A (p.Ala321Thr) rs375360666 0.00004
NM_004170.6(SLC1A1):c.*1076A>C rs886063975 0.00003
NM_004170.6(SLC1A1):c.*675A>G rs886063971 0.00003
NM_004170.6(SLC1A1):c.*853G>A rs527285220 0.00003
NM_004170.6(SLC1A1):c.262G>A (p.Gly88Arg) rs144425673 0.00003
NM_004170.6(SLC1A1):c.*1809T>C rs1008525347 0.00002
NM_004170.6(SLC1A1):c.*767A>G rs1303176983 0.00002
NM_004170.6(SLC1A1):c.*852C>T rs776464749 0.00002
NM_004170.6(SLC1A1):c.173T>A (p.Ile58Asn) rs750142585 0.00002
NM_004170.6(SLC1A1):c.441-5A>C rs774710357 0.00002
NM_004170.6(SLC1A1):c.812T>C (p.Ile271Thr) rs771833630 0.00002
NM_004170.6(SLC1A1):c.*1374T>C rs886063977 0.00001
NM_004170.6(SLC1A1):c.*1504T>G rs538055778 0.00001
NM_004170.6(SLC1A1):c.*161G>A rs886063967 0.00001
NM_004170.6(SLC1A1):c.*175G>A rs564856405 0.00001
NM_004170.6(SLC1A1):c.*1805A>G rs1238842608 0.00001
NM_004170.6(SLC1A1):c.*43C>T rs758475672 0.00001
NM_004170.6(SLC1A1):c.*673G>A rs1586879875 0.00001
NM_004170.6(SLC1A1):c.1087G>A (p.Ala363Thr) rs757336485 0.00001
NM_004170.6(SLC1A1):c.1150T>C (p.Leu384=) rs751848390 0.00001
NM_004170.6(SLC1A1):c.1194-10G>A rs566103854 0.00001
NM_004170.6(SLC1A1):c.120A>G (p.Glu40=) rs749298509 0.00001
NM_004170.6(SLC1A1):c.1483G>A (p.Glu495Lys) rs764152210 0.00001
NM_004170.6(SLC1A1):c.484-12T>A rs371593428 0.00001
NM_004170.6(SLC1A1):c.497G>A (p.Arg166His) rs775390587 0.00001
NM_004170.6(SLC1A1):c.767+7A>C rs1293813233 0.00001
NM_004170.6(SLC1A1):c.789G>C (p.Leu263Phe) rs372322897 0.00001
NM_004170.6(SLC1A1):c.893T>C (p.Ile298Thr) rs376139002 0.00001
NM_004170.6(SLC1A1):c.*111G>T rs886063966
NM_004170.6(SLC1A1):c.*1154A>G rs757041143
NM_004170.6(SLC1A1):c.*1228C>A rs769887973
NM_004170.6(SLC1A1):c.*1344T>G rs761981396
NM_004170.6(SLC1A1):c.*1485A>G rs886063978
NM_004170.6(SLC1A1):c.*1621T>G rs886063980
NM_004170.6(SLC1A1):c.*1812T>A rs1310091369
NM_004170.6(SLC1A1):c.*567T>C rs1821552878
NM_004170.6(SLC1A1):c.*570G>C rs1821553075
NM_004170.6(SLC1A1):c.*591G>C rs928340868
NM_004170.6(SLC1A1):c.*657AT[11] rs3038452
NM_004170.6(SLC1A1):c.*671A>G rs1586879835
NM_004170.6(SLC1A1):c.*828G>C rs1586880214
NM_004170.6(SLC1A1):c.*842G>T rs1821578643
NM_004170.6(SLC1A1):c.*987T>C rs886063973
NM_004170.6(SLC1A1):c.1194-1G>C rs1443633162
NM_004170.6(SLC1A1):c.1254C>G (p.Thr418=) rs886063965
NM_004170.6(SLC1A1):c.1302C>A (p.Thr434=) rs151011035
NM_004170.6(SLC1A1):c.1521C>A (p.Gly507=) rs748205874
NM_004170.6(SLC1A1):c.274C>A (p.Leu92Met) rs17855568
NM_004170.6(SLC1A1):c.398C>A (p.Thr133Asn) rs763282092
NM_004170.6(SLC1A1):c.472T>G (p.Cys158Gly) rs1397256714
NM_004170.6(SLC1A1):c.73G>C (p.Val25Leu) rs745861873
NM_004170.6(SLC1A1):c.875+8A>G rs12682807
NM_004170.6(SLC1A1):c.91+10G>A rs753091437
NM_004170.6(SLC1A1):c.944G>A (p.Arg315Gln) rs745891601

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