ClinVar Miner

List of variants in gene TBR1 studied for Autism, susceptibility to, 5

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Total variants: 60
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HGVS dbSNP gnomAD frequency
NM_006593.4(TBR1):c.*10G>A rs890076 0.75488
NM_006593.4(TBR1):c.1134A>G (p.Thr378=) rs79294493 0.01425
NM_006593.4(TBR1):c.1709C>T (p.Ala570Val) rs762334378 0.00006
NM_006593.4(TBR1):c.1932C>A (p.Asp644Glu) rs201381014 0.00005
NM_006593.4(TBR1):c.1648C>T (p.Pro550Ser) rs1033104710 0.00003
NM_006593.4(TBR1):c.164T>C (p.Ile55Thr) rs201185594 0.00003
NM_006593.4(TBR1):c.1952C>T (p.Ser651Leu) rs780210539 0.00002
NM_006593.4(TBR1):c.1312A>G (p.Ser438Gly) rs886345883 0.00001
NM_006593.4(TBR1):c.1013A>C (p.His338Pro)
NM_006593.4(TBR1):c.1049dup (p.Thr350_Ser351insTer) rs1684180699
NM_006593.4(TBR1):c.1070A>G (p.Gln357Arg)
NM_006593.4(TBR1):c.1120A>C (p.Asn374His) rs1684182454
NM_006593.4(TBR1):c.1126G>C (p.Asp376His) rs2468093926
NM_006593.4(TBR1):c.1132A>T (p.Thr378Ser) rs2105280445
NM_006593.4(TBR1):c.1155C>A (p.Asn385Lys) rs762713626
NM_006593.4(TBR1):c.1162G>C (p.Ala388Pro) rs2105280469
NM_006593.4(TBR1):c.1165A>G (p.Lys389Glu) rs1553510677
NM_006593.4(TBR1):c.1168G>C (p.Gly390Arg) rs1553510679
NM_006593.4(TBR1):c.1174C>T (p.Arg392Trp) rs2105280472
NM_006593.4(TBR1):c.1175G>A (p.Arg392Gln) rs2468095250
NM_006593.4(TBR1):c.1190+2T>G rs1231294235
NM_006593.4(TBR1):c.1191-5C>A rs1412546585
NM_006593.4(TBR1):c.1206T>A (p.Cys402Ter) rs2468098872
NM_006593.4(TBR1):c.1220dup (p.Thr408fs) rs2468098890
NM_006593.4(TBR1):c.1250C>A (p.Ser417Ter) rs2468098938
NM_006593.4(TBR1):c.1271G>A (p.Arg424His) rs1231245992
NM_006593.4(TBR1):c.1271del (p.Arg424fs)
NM_006593.4(TBR1):c.1349_1355dup (p.Pro453fs) rs2468099183
NM_006593.4(TBR1):c.1370C>G (p.Thr457Arg) rs1684270255
NM_006593.4(TBR1):c.163dup (p.Ile55fs) rs2468090210
NM_006593.4(TBR1):c.1731dup (p.Ala578fs) rs1574152672
NM_006593.4(TBR1):c.1771G>A (p.Ala591Thr) rs1489503769
NM_006593.4(TBR1):c.1816C>A (p.Pro606Thr) rs1684280120
NM_006593.4(TBR1):c.1948A>G (p.Ser650Gly) rs1684282566
NM_006593.4(TBR1):c.2047T>G (p.Ter683Glu) rs2468100907
NM_006593.4(TBR1):c.251C>G (p.Ser84Cys) rs2468090338
NM_006593.4(TBR1):c.265G>C (p.Gly89Arg)
NM_006593.4(TBR1):c.284A>G (p.His95Arg) rs2105278281
NM_006593.4(TBR1):c.287G>A (p.Ser96Asn) rs2468090382
NM_006593.4(TBR1):c.358C>T (p.Pro120Ser) rs1559059936
NM_006593.4(TBR1):c.405del (p.Ala136fs) rs1684130791
NM_006593.4(TBR1):c.412_413dup (p.Ile139fs) rs2468090604
NM_006593.4(TBR1):c.440C>G (p.Ala147Gly) rs2468090648
NM_006593.4(TBR1):c.507C>A (p.Tyr169Ter)
NM_006593.4(TBR1):c.559G>C (p.Ala187Pro) rs1187510537
NM_006593.4(TBR1):c.592G>C (p.Gly198Arg) rs764392292
NM_006593.4(TBR1):c.661C>A (p.Gln221Lys) rs1553510212
NM_006593.4(TBR1):c.682A>G (p.Lys228Glu) rs1553510219
NM_006593.4(TBR1):c.691A>G (p.Arg231Gly) rs2468090992
NM_006593.4(TBR1):c.736C>G (p.Pro246Ala)
NM_006593.4(TBR1):c.73C>A (p.Pro25Thr) rs757176020
NM_006593.4(TBR1):c.748T>C (p.Tyr250His) rs2468091721
NM_006593.4(TBR1):c.776C>T (p.Ala259Val)
NM_006593.4(TBR1):c.813G>T (p.Trp271Cys) rs1559060428
NM_006593.4(TBR1):c.842T>C (p.Val281Ala) rs1322670879
NM_006593.4(TBR1):c.853C>G (p.Arg285Gly) rs754584509
NM_006593.4(TBR1):c.880A>C (p.Asn294His) rs2468092630
NM_006593.4(TBR1):c.913T>C (p.Ser305Pro) rs1684166614
NM_006593.4(TBR1):c.969+1G>C rs2105279320
NM_006593.4:c.(1128+1_1129-1)_(1190+1_1191-1)del

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