ClinVar Miner

List of variants in gene TRIO studied for autosomal dominant non-syndromic intellectual disability

Included ClinVar conditions (47):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 50
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HGVS dbSNP gnomAD frequency
NM_007118.4(TRIO):c.5100A>C (p.Thr1700=) rs30612 0.88742
NM_007118.4(TRIO):c.5497-48C>T rs27100 0.52401
NM_007118.4(TRIO):c.541-20G>A rs30629 0.44690
NM_007118.4(TRIO):c.4398T>C (p.Asp1466=) rs30774 0.42642
NM_007118.4(TRIO):c.4311+44G>A rs256412 0.31735
NM_007118.4(TRIO):c.3033C>T (p.Asn1011=) rs13189406 0.22131
NM_007118.4(TRIO):c.5203+20G>A rs56207939 0.17811
NM_007118.4(TRIO):c.4020C>T (p.Ile1340=) rs7715916 0.10797
NM_007118.4(TRIO):c.3882-36C>G rs11949756 0.10757
NM_007118.4(TRIO):c.3332-33C>T rs10866507 0.10407
NM_007118.4(TRIO):c.5523C>T (p.Ser1841=) rs17500731 0.01857
NM_007118.4(TRIO):c.6154-47G>A rs62345860 0.01662
NM_007118.4(TRIO):c.7457_7468del (p.Trp2486_Pro2490delinsSer) rs140308852 0.00802
NM_007118.4(TRIO):c.5496+34G>A rs62345056 0.00304
NM_007118.4(TRIO):c.7401T>C (p.Ser2467=) rs377647192 0.00046
NM_007118.4(TRIO):c.9277C>T (p.Leu3093Phe) rs145985294 0.00039
NM_007118.4(TRIO):c.9178G>A (p.Val3060Ile) rs149252703 0.00038
NM_007118.4(TRIO):c.5945G>A (p.Arg1982His) rs780065387 0.00002
NM_007118.4(TRIO):c.1319G>A (p.Arg440Gln) rs1398653793 0.00001
NM_007118.4(TRIO):c.3559A>G (p.Ile1187Val) rs950757813 0.00001
NM_007118.4(TRIO):c.53C>G (p.Ala18Gly) rs1429556466 0.00001
NM_007118.4(TRIO):c.7250G>A (p.Ser2417Asn) rs927883781 0.00001
NM_007118.4(TRIO):c.7264G>A (p.Ala2422Thr) rs1469803121 0.00001
NM_007118.4(TRIO):c.80G>T (p.Gly27Val) rs1188365621 0.00001
NM_007118.4(TRIO):c.8686C>A (p.Leu2896Met) rs1422150009 0.00001
NM_007118.4(TRIO):c.1665_1666delinsTT (p.Trp555_Gln556delinsCysTer) rs2152305937
NM_007118.4(TRIO):c.2046+6G>T rs1741451308
NM_007118.4(TRIO):c.3224C>T (p.Thr1075Ile) rs1745368018
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.3242C>T (p.Ala1081Val)
NM_007118.4(TRIO):c.3332-8T>C rs369818812
NM_007118.4(TRIO):c.3931C>G (p.Leu1311Val)
NM_007118.4(TRIO):c.4085A>G (p.Tyr1362Cys)
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.4978C>A (p.Leu1660Met) rs2152389359
NM_007118.4(TRIO):c.5003C>T (p.Thr1668Ile)
NM_007118.4(TRIO):c.5619G>A (p.Met1873Ile)
NM_007118.4(TRIO):c.5947G>A (p.Asp1983Asn)
NM_007118.4(TRIO):c.6181T>G (p.Tyr2061Asp)
NM_007118.4(TRIO):c.6913G>A (p.Gly2305Ser)
NM_007118.4(TRIO):c.704del (p.Glu235fs) rs2152284932
NM_007118.4(TRIO):c.7050del (p.Val2351fs)
NM_007118.4(TRIO):c.7156G>C (p.Gly2386Arg) rs761969823
NM_007118.4(TRIO):c.8019+6T>G rs2126677662
NM_007118.4(TRIO):c.968A>G (p.Gln323Arg) rs777932649

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