ClinVar Miner

List of variants in gene TRIO studied for syndromic intellectual disability

Included ClinVar conditions (203):
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Gene type:
ClinVar version:
Total variants: 169
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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.9178G>A (p.Val3060Ile) rs149252703 0.00038
NM_007118.4(TRIO):c.7922A>C (p.Lys2641Thr) rs200539540 0.00016
NM_007118.4(TRIO):c.2276C>T (p.Thr759Met) rs201514384 0.00004
NM_007118.4(TRIO):c.6083+4C>T rs201990726 0.00003
NM_007118.4(TRIO):c.410C>T (p.Ser137Phe) rs961247277 0.00002
NM_007118.4(TRIO):c.5386C>A (p.Leu1796Met) rs766716332 0.00002
NM_007118.4(TRIO):c.8834C>T (p.Thr2945Met) rs574639687 0.00002
NM_007118.4(TRIO):c.2105C>T (p.Ser702Leu) rs1487014323 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.7080G>C (p.Gln2360His) rs746319480 0.00001
NM_007118.4(TRIO):c.7222C>G (p.Pro2408Ala) rs868112751 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.8686C>A (p.Leu2896Met) rs1422150009 0.00001
NM_007118.3(TRIO):c.7425dup (p.Ser2476Glnfs) rs774597492
NM_007118.4(TRIO):c.1013A>G (p.Gln338Arg) rs2152285212
NM_007118.4(TRIO):c.1035T>G (p.Phe345Leu) rs1736873932
NM_007118.4(TRIO):c.1368G>A (p.Lys456=)
NM_007118.4(TRIO):c.1500G>A (p.Glu500=)
NM_007118.4(TRIO):c.1577C>T (p.Ala526Val) rs1739400348
NM_007118.4(TRIO):c.1644G>T (p.Gln548His) rs1739405858
NM_007118.4(TRIO):c.1732-1G>C
NM_007118.4(TRIO):c.1863C>G (p.Tyr621Ter) rs140745100
NM_007118.4(TRIO):c.1897C>G (p.Gln633Glu) rs1741439198
NM_007118.4(TRIO):c.1955T>C (p.Leu652Pro) rs1741443770
NM_007118.4(TRIO):c.1985G>A (p.Arg662His)
NM_007118.4(TRIO):c.1993C>T (p.Gln665Ter)
NM_007118.4(TRIO):c.2046+1G>A
NM_007118.4(TRIO):c.2046+6G>T rs1741451308
NM_007118.4(TRIO):c.2296del (p.Glu766fs)
NM_007118.4(TRIO):c.2302C>T (p.Gln768Ter) rs1554062562
NM_007118.4(TRIO):c.2327_2356del (p.Gln776_Phe785del)
NM_007118.4(TRIO):c.2386A>G (p.Ile796Val)
NM_007118.4(TRIO):c.2521T>G (p.Leu841Val) rs2152340657
NM_007118.4(TRIO):c.2541C>G (p.His847Gln) rs1744368530
NM_007118.4(TRIO):c.2570dup (p.Asn857fs) rs2152340697
NM_007118.4(TRIO):c.2638_2641dup (p.Leu881fs)
NM_007118.4(TRIO):c.2714A>C (p.Gln905Pro) rs2152341262
NM_007118.4(TRIO):c.2754+2T>C
NM_007118.4(TRIO):c.2770C>T (p.Arg924Cys)
NM_007118.4(TRIO):c.2771G>A (p.Arg924His)
NM_007118.4(TRIO):c.2804T>C (p.Ile935Thr)
NM_007118.4(TRIO):c.2891C>T (p.Ala964Val) rs1471812228
NM_007118.4(TRIO):c.2957G>A (p.Arg986Gln)
NM_007118.4(TRIO):c.298C>T (p.Arg100Ter)
NM_007118.4(TRIO):c.298del (p.Arg100fs) rs1735893497
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.3246C>A (p.Asp1082Glu) rs61737134
NM_007118.4(TRIO):c.3332-1_3332del rs2152351137
NM_007118.4(TRIO):c.3332-8T>C rs369818812
NM_007118.4(TRIO):c.3570+3G>A rs2152354197
NM_007118.4(TRIO):c.3571C>T (p.Gln1191Ter)
NM_007118.4(TRIO):c.3657dup (p.Cys1220fs) rs1554068529
NM_007118.4(TRIO):c.3733G>A (p.Ala1245Thr) rs1384265862
NM_007118.4(TRIO):c.3752del (p.Asp1251fs) rs879255623
NM_007118.4(TRIO):c.3766-2A>C
NM_007118.4(TRIO):c.3895G>A (p.Glu1299Lys) rs1746763024
NM_007118.4(TRIO):c.3935G>A (p.Arg1312Gln)
NM_007118.4(TRIO):c.4103A>G (p.Asp1368Gly) rs2152363791
NM_007118.4(TRIO):c.4128G>A (p.Trp1376Ter) rs879255622
NM_007118.4(TRIO):c.4231C>T (p.Arg1411Ter)
NM_007118.4(TRIO):c.4241T>C (p.Leu1414Ser) rs1747347943
NM_007118.4(TRIO):c.4276G>T (p.Val1426Phe) rs1579522661
NM_007118.4(TRIO):c.4283G>A (p.Arg1428Gln) rs879255626
NM_007118.4(TRIO):c.4300C>T (p.Leu1434Phe) rs1747352673
NM_007118.4(TRIO):c.4309A>G (p.Lys1437Glu)
NM_007118.4(TRIO):c.4343G>A (p.Gly1448Glu)
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.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.4431T>G (p.Asp1477Glu) rs1338354694
NM_007118.4(TRIO):c.4466del (p.Gln1489fs) rs879255625
NM_007118.4(TRIO):c.4495del (p.Thr1499fs) rs2152373759
NM_007118.4(TRIO):c.4535T>C (p.Phe1512Ser) rs1747843990
NM_007118.4(TRIO):c.4716G>A (p.Lys1572=)
NM_007118.4(TRIO):c.4751A>T (p.Lys1584Met) rs2152380313
NM_007118.4(TRIO):c.4978C>A (p.Leu1660Met) rs2152389359
NM_007118.4(TRIO):c.5003C>T (p.Thr1668Ile)
NM_007118.4(TRIO):c.5020G>A (p.Glu1674Lys)
NM_007118.4(TRIO):c.5056C>G (p.Leu1686Val) rs749494831
NM_007118.4(TRIO):c.5203+1_5203+2dup rs1749983541
NM_007118.4(TRIO):c.5204-3C>G
NM_007118.4(TRIO):c.5239C>T (p.Pro1747Ser) rs1053063993
NM_007118.4(TRIO):c.5333C>T (p.Thr1778Ile)
NM_007118.4(TRIO):c.5345_5355dup (p.Ser1786fs)
NM_007118.4(TRIO):c.5482G>T (p.Glu1828Ter)
NM_007118.4(TRIO):c.5486C>G (p.Thr1829Arg) rs760274582
NM_007118.4(TRIO):c.5491_5496+12del
NM_007118.4(TRIO):c.5497-1G>C
NM_007118.4(TRIO):c.5599G>A (p.Val1867Met)
NM_007118.4(TRIO):c.5636G>A (p.Ser1879Asn) rs1753935398
NM_007118.4(TRIO):c.5667G>C (p.Lys1889Asn)
NM_007118.4(TRIO):c.5680T>A (p.Leu1894Ile) rs2126522675
NM_007118.4(TRIO):c.5689del (p.Arg1897fs)
NM_007118.4(TRIO):c.5763+1G>T
NM_007118.4(TRIO):c.5765C>T (p.Ala1922Val)
NM_007118.4(TRIO):c.5912+3A>G
NM_007118.4(TRIO):c.5921T>C (p.Leu1974Ser)
NM_007118.4(TRIO):c.5980-14C>G rs1420875369
NM_007118.4(TRIO):c.6083_6084insT (p.Phe2029fs)
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.6153+4A>G rs2126581436
NM_007118.4(TRIO):c.6181T>G (p.Tyr2061Asp)
NM_007118.4(TRIO):c.6227T>C (p.Ile2076Thr)
NM_007118.4(TRIO):c.634G>T (p.Glu212Ter) rs1057516029
NM_007118.4(TRIO):c.6374C>T (p.Thr2125Ile) rs1425641656
NM_007118.4(TRIO):c.6397G>A (p.Glu2133Lys)
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.6554_6557del (p.Glu2185fs) rs2126611738
NM_007118.4(TRIO):c.6560_6561del (p.Arg2187fs)
NM_007118.4(TRIO):c.6661A>G (p.Ser2221Gly)
NM_007118.4(TRIO):c.6818A>G (p.Gln2273Arg)
NM_007118.4(TRIO):c.6836-6T>C rs1364924645
NM_007118.4(TRIO):c.6866A>G (p.Asn2289Ser) rs1756015567
NM_007118.4(TRIO):c.6955_6975dup (p.Ser2325_Ser2326insGlyHisSerGlyGlyProSer)
NM_007118.4(TRIO):c.6968G>A (p.Gly2323Asp)
NM_007118.4(TRIO):c.7001G>C (p.Ser2334Thr) rs375274497
NM_007118.4(TRIO):c.7003del (p.Arg2335fs)
NM_007118.4(TRIO):c.7048_7051del (p.Pro2350fs)
NM_007118.4(TRIO):c.7049C>G (p.Pro2350Arg) rs754870679
NM_007118.4(TRIO):c.7050dup (p.Val2351fs) rs746654944
NM_007118.4(TRIO):c.7156G>C (p.Gly2386Arg) rs761969823
NM_007118.4(TRIO):c.7294_7295delinsAA (p.Ala2432Asn)
NM_007118.4(TRIO):c.7301C>T (p.Ala2434Val) rs1756094324
NM_007118.4(TRIO):c.7317_7345del (p.Ser2440fs)
NM_007118.4(TRIO):c.731A>G (p.Lys244Arg)
NM_007118.4(TRIO):c.7436T>A (p.Leu2479Gln)
NM_007118.4(TRIO):c.7463C>T (p.Ser2488Phe)
NM_007118.4(TRIO):c.7566_7573dup (p.Arg2525fs)
NM_007118.4(TRIO):c.757dup (p.Ala253fs)
NM_007118.4(TRIO):c.7595C>T (p.Ala2532Val) rs1400453441
NM_007118.4(TRIO):c.7711A>T (p.Asn2571Tyr)
NM_007118.4(TRIO):c.7780G>C (p.Ala2594Pro)
NM_007118.4(TRIO):c.8019+6T>G rs2126677662
NM_007118.4(TRIO):c.8383T>C (p.Phe2795Leu) rs944775553
NM_007118.4(TRIO):c.838C>T (p.Gln280Ter) rs2152285036
NM_007118.4(TRIO):c.8492T>C (p.Leu2831Ser)
NM_007118.4(TRIO):c.850C>T (p.Gln284Ter)
NM_007118.4(TRIO):c.8584C>G (p.Pro2862Ala)
NM_007118.4(TRIO):c.8647C>T (p.Arg2883Ter) rs1438153964
NM_007118.4(TRIO):c.8683C>T (p.His2895Tyr)
NM_007118.4(TRIO):c.872G>A (p.Ser291Asn)
NM_007118.4(TRIO):c.8864dup (p.Asn2955fs)
NM_007118.4(TRIO):c.8968T>C (p.Ser2990Pro)
NM_007118.4(TRIO):c.968A>G (p.Gln323Arg) rs777932649
Single allele

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