ClinVar Miner

List of variants in gene TRIO reported as pathogenic by GeneDx

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Gene type:
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Total variants: 23
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HGVS dbSNP gnomAD frequency
NM_007118.4(TRIO):c.163C>T (p.Arg55Ter)
NM_007118.4(TRIO):c.2119C>T (p.Gln707Ter) rs2152335941
NM_007118.4(TRIO):c.2842C>T (p.Arg948Ter)
NM_007118.4(TRIO):c.3040_3041del (p.Val1014fs) rs1579448914
NM_007118.4(TRIO):c.3223A>G (p.Thr1075Ala) rs2152348001
NM_007118.4(TRIO):c.3232C>T (p.Arg1078Trp)
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.3826C>T (p.Arg1276Ter)
NM_007118.4(TRIO):c.4112A>G (p.His1371Arg) rs2152363798
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.4295A>G (p.Tyr1432Cys)
NM_007118.4(TRIO):c.4394A>G (p.Asn1465Ser) rs1747669042
NM_007118.4(TRIO):c.4504C>T (p.Arg1502Ter)
NM_007118.4(TRIO):c.4513C>T (p.Arg1505Ter)
NM_007118.4(TRIO):c.5328G>A (p.Trp1776Ter) rs1561518112
NM_007118.4(TRIO):c.6092dup (p.Leu2031fs) rs752676391
NM_007118.4(TRIO):c.6153+1G>A rs1755124330
NM_007118.4(TRIO):c.6556_6557del (p.Arg2186fs) rs2126611738
NM_007118.4(TRIO):c.7185dup (p.Gly2396fs) rs1436796227
NM_007118.4(TRIO):c.77C>A (p.Ser26Ter) rs1179257010

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