ClinVar Miner

List of variants in gene TRIO reported as pathogenic

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Total variants: 61
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HGVS dbSNP gnomAD frequency
NM_007118.4(TRIO):c.2105C>T (p.Ser702Leu) rs1487014323 0.00001
NM_007118.4(TRIO):c.1135G>T (p.Glu379Ter) rs1737048333
NM_007118.4(TRIO):c.163C>T (p.Arg55Ter)
NM_007118.4(TRIO):c.2119C>T (p.Gln707Ter) rs2152335941
NM_007118.4(TRIO):c.2302C>T (p.Gln768Ter) rs1554062562
NM_007118.4(TRIO):c.2359C>T (p.Gln787Ter) rs1554062588
NM_007118.4(TRIO):c.2414G>A (p.Trp805Ter) rs1744357992
NM_007118.4(TRIO):c.2842C>T (p.Arg948Ter)
NM_007118.4(TRIO):c.2987G>A (p.Trp996Ter) rs1554064737
NM_007118.4(TRIO):c.298del (p.Arg100fs) rs1735893497
NM_007118.4(TRIO):c.3040_3041del (p.Val1014fs) rs1579448914
NM_007118.4(TRIO):c.3119G>A (p.Trp1040Ter) rs1554064863
NM_007118.4(TRIO):c.3223A>G (p.Thr1075Ala) rs2152348001
NM_007118.4(TRIO):c.3232C>G (p.Arg1078Gly) rs1554065887
NM_007118.4(TRIO):c.3232C>T (p.Arg1078Trp)
NM_007118.4(TRIO):c.3233G>A (p.Arg1078Gln) rs1745369142
NM_007118.4(TRIO):c.3239A>T (p.Asn1080Ile) rs879255628
NM_007118.4(TRIO):c.3256A>G (p.Lys1086Glu)
NM_007118.4(TRIO):c.3262del (p.Leu1088fs) rs1554065893
NM_007118.4(TRIO):c.3415C>T (p.Gln1139Ter) rs2152351208
NM_007118.4(TRIO):c.3657dup (p.Cys1220fs) rs1554068529
NM_007118.4(TRIO):c.3752del (p.Asp1251fs) rs879255623
NM_007118.4(TRIO):c.3806del (p.Pro1269fs) rs1746675692
NM_007118.4(TRIO):c.3826C>T (p.Arg1276Ter)
NM_007118.4(TRIO):c.3895G>A (p.Glu1299Lys) rs1746763024
NM_007118.4(TRIO):c.4112A>G (p.His1371Arg) rs2152363798
NM_007118.4(TRIO):c.4128G>A (p.Trp1376Ter) rs879255622
NM_007118.4(TRIO):c.4282C>T (p.Arg1428Ter) rs1747351128
NM_007118.4(TRIO):c.4283G>A (p.Arg1428Gln) rs879255626
NM_007118.4(TRIO):c.4292A>T (p.Lys1431Met) rs1747351918
NM_007118.4(TRIO):c.4295A>G (p.Tyr1432Cys)
NM_007118.4(TRIO):c.4381C>A (p.Pro1461Thr) rs879255627
NM_007118.4(TRIO):c.4382C>G (p.Pro1461Arg) rs1747667518
NM_007118.4(TRIO):c.4382C>T (p.Pro1461Leu) rs1747667518
NM_007118.4(TRIO):c.4387C>T (p.Arg1463Ter) rs748670822
NM_007118.4(TRIO):c.4394A>G (p.Asn1465Ser) rs1747669042
NM_007118.4(TRIO):c.4406A>G (p.His1469Arg) rs1554070777
NM_007118.4(TRIO):c.4466del (p.Gln1489fs) rs879255625
NM_007118.4(TRIO):c.4504C>T (p.Arg1502Ter)
NM_007118.4(TRIO):c.4513C>T (p.Arg1505Ter)
NM_007118.4(TRIO):c.4746G>A (p.Trp1582Ter) rs1748663758
NM_007118.4(TRIO):c.5203+1_5203+2dup rs1749983541
NM_007118.4(TRIO):c.5274_5283del (p.Gly1759fs) rs1753758481
NM_007118.4(TRIO):c.5328G>A (p.Trp1776Ter) rs1561518112
NM_007118.4(TRIO):c.5491_5496+12del
NM_007118.4(TRIO):c.6092del (p.Phe2030_Leu2031insTer) rs752676391
NM_007118.4(TRIO):c.6092dup (p.Leu2031fs) rs752676391
NM_007118.4(TRIO):c.6153+1G>A rs1755124330
NM_007118.4(TRIO):c.634G>T (p.Glu212Ter) rs1057516029
NM_007118.4(TRIO):c.649A>T (p.Arg217Ter) rs879255624
NM_007118.4(TRIO):c.651_652del (p.Arg217fs) rs1736840999
NM_007118.4(TRIO):c.6556_6557del (p.Arg2186fs) rs2126611738
NM_007118.4(TRIO):c.6888_6889dup (p.Gly2297fs) rs1756023411
NM_007118.4(TRIO):c.7040del (p.His2347fs) rs1756051391
NM_007118.4(TRIO):c.7050dup (p.Val2351fs) rs746654944
NM_007118.4(TRIO):c.7081_7084dup (p.Glu2362fs) rs1756058470
NM_007118.4(TRIO):c.7185dup (p.Gly2396fs) rs1436796227
NM_007118.4(TRIO):c.7418_7419insA (p.Phe2473fs)
NM_007118.4(TRIO):c.7762_7763del (p.Met2588fs) rs2126660137
NM_007118.4(TRIO):c.77C>A (p.Ser26Ter) rs1179257010
NM_007118.4(TRIO):c.838C>T (p.Gln280Ter) rs2152285036

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