ClinVar Miner

List of variants studied for autism, susceptibility to, 5

Included ClinVar conditions (1):
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Total variants: 47
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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.1049dup (p.Thr350_Ser351insTer) rs1684180699
NM_006593.4(TBR1):c.1120A>C (p.Asn374His) rs1684182454
NM_006593.4(TBR1):c.1126G>C (p.Asp376His)
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)
NM_006593.4(TBR1):c.1175G>A (p.Arg392Gln)
NM_006593.4(TBR1):c.1191-5C>A rs1412546585
NM_006593.4(TBR1):c.1206T>A (p.Cys402Ter)
NM_006593.4(TBR1):c.1250C>A (p.Ser417Ter)
NM_006593.4(TBR1):c.1271G>A (p.Arg424His)
NM_006593.4(TBR1):c.1312A>G (p.Ser438Gly)
NM_006593.4(TBR1):c.1349_1355dup (p.Pro453fs)
NM_006593.4(TBR1):c.1370C>G (p.Thr457Arg)
NM_006593.4(TBR1):c.1547del (p.Tyr516fs) rs1574152522
NM_006593.4(TBR1):c.1588_1594dup (p.Thr532fs) rs869312704
NM_006593.4(TBR1):c.164T>C (p.Ile55Thr)
NM_006593.4(TBR1):c.1709C>T (p.Ala570Val)
NM_006593.4(TBR1):c.1731dup (p.Ala578fs) rs1574152672
NM_006593.4(TBR1):c.1771G>A (p.Ala591Thr)
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.1952C>T (p.Ser651Leu)
NM_006593.4(TBR1):c.2047T>G (p.Ter683Glu)
NM_006593.4(TBR1):c.251C>G (p.Ser84Cys)
NM_006593.4(TBR1):c.284A>G (p.His95Arg) rs2105278281
NM_006593.4(TBR1):c.287G>A (p.Ser96Asn)
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)
NM_006593.4(TBR1):c.559G>C (p.Ala187Pro)
NM_006593.4(TBR1):c.592G>C (p.Gly198Arg) rs764392292
NM_006593.4(TBR1):c.661C>A (p.Gln221Lys)
NM_006593.4(TBR1):c.682A>G (p.Lys228Glu) rs1553510219
NM_006593.4(TBR1):c.691A>G (p.Arg231Gly)
NM_006593.4(TBR1):c.73C>A (p.Pro25Thr) rs757176020
NM_006593.4(TBR1):c.748T>C (p.Tyr250His)
NM_006593.4(TBR1):c.813G>T (p.Trp271Cys) rs1559060428
NM_006593.4(TBR1):c.842T>C (p.Val281Ala)
NM_006593.4(TBR1):c.853C>G (p.Arg285Gly) rs754584509
NM_006593.4(TBR1):c.913T>C (p.Ser305Pro)
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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