ClinVar Miner

List of variants in gene SLC6A1 reported as benign for central nervous system disorder

Included ClinVar conditions (2490):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 78
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HGVS dbSNP gnomAD frequency
NM_003042.4(SLC6A1):c.1695+16C>G rs35957531 0.10817
NM_003042.4(SLC6A1):c.780G>A (p.Thr260=) rs33948309 0.02040
NM_003042.4(SLC6A1):c.1002A>G (p.Ala334=) rs35513423 0.01020
NM_003042.4(SLC6A1):c.535A>G (p.Met179Val) rs34299874 0.00894
NM_003042.4(SLC6A1):c.960C>T (p.Ser320=) rs35972647 0.00702
NM_003042.4(SLC6A1):c.138G>A (p.Thr46=) rs183069336 0.00475
NM_003042.4(SLC6A1):c.1243C>A (p.Leu415Ile) rs112095333 0.00250
NM_003042.4(SLC6A1):c.912C>T (p.Ile304=) rs35450949 0.00159
NM_003042.4(SLC6A1):c.471+6T>C rs142579600 0.00151
NM_003042.4(SLC6A1):c.1647C>T (p.Pro549=) rs2272401 0.00138
NM_003042.4(SLC6A1):c.411C>T (p.Asn137=) rs148429200 0.00103
NM_003042.4(SLC6A1):c.715-8C>T rs41537851 0.00093
NM_003042.4(SLC6A1):c.1079-14A>G rs146962789 0.00081
NM_003042.4(SLC6A1):c.953+19G>A rs113968319 0.00077
NM_003042.4(SLC6A1):c.1191+18G>A rs373250372 0.00058
NM_003042.4(SLC6A1):c.846C>T (p.Ser282=) rs139315755 0.00053
NM_003042.4(SLC6A1):c.849+20C>T rs6341 0.00045
NM_003042.4(SLC6A1):c.6G>A (p.Ala2=) rs6343 0.00032
NM_003042.4(SLC6A1):c.1527G>A (p.Ala509=) rs34969656 0.00027
NM_003042.4(SLC6A1):c.1250G>A (p.Arg417His) rs191293931 0.00026
NM_003042.4(SLC6A1):c.238+17G>A rs762139954 0.00014
NM_003042.4(SLC6A1):c.616A>G (p.Lys206Glu) rs375623402 0.00012
NM_003042.4(SLC6A1):c.953+18C>T rs149997639 0.00009
NM_003042.4(SLC6A1):c.1663A>G (p.Met555Val) rs139846326 0.00007
NM_003042.4(SLC6A1):c.830G>A (p.Arg277His) rs752396911 0.00006
NM_003042.4(SLC6A1):c.1213A>G (p.Ile405Val) rs759515813 0.00005
NM_003042.4(SLC6A1):c.885A>T (p.Ser295=) rs563719346 0.00004
NM_003042.4(SLC6A1):c.1732G>A (p.Val578Ile) rs369359690 0.00003
NM_003042.4(SLC6A1):c.31G>A (p.Gly11Arg) rs1264567694 0.00003
NM_003042.4(SLC6A1):c.1738C>T (p.Pro580Ser) rs747243516 0.00002
NM_003042.4(SLC6A1):c.1766C>T (p.Ala589Val) rs781158800 0.00002
NM_003042.4(SLC6A1):c.238+14C>T rs138505143 0.00002
NM_003042.4(SLC6A1):c.584G>A (p.Arg195His) rs773445048 0.00002
NM_003042.4(SLC6A1):c.864G>A (p.Ala288=) rs776690821 0.00002
NM_003042.4(SLC6A1):c.993C>T (p.Ser331=) rs376992822 0.00002
NM_003042.4(SLC6A1):c.999C>T (p.Phe333=) rs138166453 0.00002
NM_003042.4(SLC6A1):c.115G>A (p.Ala39Thr) rs866130390 0.00001
NM_003042.4(SLC6A1):c.1256G>A (p.Arg419His) rs941588071 0.00001
NM_003042.4(SLC6A1):c.1343A>G (p.Lys448Arg) rs781635525 0.00001
NM_003042.4(SLC6A1):c.1435C>A (p.Arg479=) rs745529755 0.00001
NM_003042.4(SLC6A1):c.144G>T (p.Lys48Asn) rs751216831 0.00001
NM_003042.4(SLC6A1):c.149G>A (p.Arg50His) rs766945941 0.00001
NM_003042.4(SLC6A1):c.1793A>G (p.Tyr598Cys) rs1258130231 0.00001
NM_003042.4(SLC6A1):c.328A>G (p.Ile110Val) rs1270312556 0.00001
NM_003042.4(SLC6A1):c.38T>C (p.Ile13Thr) rs781163448 0.00001
NM_003042.4(SLC6A1):c.52A>G (p.Ser18Gly) rs935976612 0.00001
NM_003042.4(SLC6A1):c.711A>T (p.Gly237=) rs917843581 0.00001
NM_003042.4(SLC6A1):c.715-3C>T rs1002831448 0.00001
NM_003042.4(SLC6A1):c.829C>T (p.Arg277Cys) rs377383740 0.00001
NM_003042.4(SLC6A1):c.994A>G (p.Met332Val) rs867226042 0.00001
NM_003042.4(SLC6A1):c.1113G>A (p.Ala371=)
NM_003042.4(SLC6A1):c.1191+15C>T rs781558890
NM_003042.4(SLC6A1):c.1191+16_1191+17dup rs3841958
NM_003042.4(SLC6A1):c.1191+17del rs3841958
NM_003042.4(SLC6A1):c.1191+17dup rs3841958
NM_003042.4(SLC6A1):c.1213A>C (p.Ile405Leu) rs759515813
NM_003042.4(SLC6A1):c.1274C>T (p.Ala425Val)
NM_003042.4(SLC6A1):c.1300A>T (p.Ile434Phe)
NM_003042.4(SLC6A1):c.13G>A (p.Gly5Ser)
NM_003042.4(SLC6A1):c.152T>A (p.Phe51Tyr) rs1553687887
NM_003042.4(SLC6A1):c.1598G>C (p.Gly533Ala) rs1698067782
NM_003042.4(SLC6A1):c.1724A>T (p.Glu575Val) rs1553692346
NM_003042.4(SLC6A1):c.1727A>C (p.Asp576Ala) rs1698164249
NM_003042.4(SLC6A1):c.1747G>C (p.Gly583Arg) rs1698165532
NM_003042.4(SLC6A1):c.1795A>G (p.Ile599Val) rs566659046
NM_003042.4(SLC6A1):c.30C>T (p.Asp10=)
NM_003042.4(SLC6A1):c.400T>C (p.Phe134Leu) rs1697262942
NM_003042.4(SLC6A1):c.40T>C (p.Ser14Pro) rs1697187552
NM_003042.4(SLC6A1):c.535A>T (p.Met179Leu) rs34299874
NM_003042.4(SLC6A1):c.538G>A (p.Val180Ile)
NM_003042.4(SLC6A1):c.538G>T (p.Val180Phe) rs2124912568
NM_003042.4(SLC6A1):c.539T>G (p.Val180Gly) rs2124912579
NM_003042.4(SLC6A1):c.543C>A (p.Asn181Lys)
NM_003042.4(SLC6A1):c.606C>G (p.Asp202Glu) rs146894194
NM_003042.4(SLC6A1):c.651G>A (p.Thr217=) rs6344
NM_003042.4(SLC6A1):c.651G>T (p.Thr217=) rs6344
NM_003042.4(SLC6A1):c.660C>A (p.Ile220=) rs760984163
NM_003042.4(SLC6A1):c.912C>A (p.Ile304=) rs35450949

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