ClinVar Miner

List of variants in gene TRIO reported by Ambry Genetics

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Gene type:
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Total variants: 130
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HGVS dbSNP gnomAD frequency
NM_007118.4(TRIO):c.8831A>G (p.Asn2944Ser) rs143213427 0.00279
NM_007118.4(TRIO):c.34G>A (p.Ala12Thr) rs1045136451 0.00141
NM_007118.4(TRIO):c.41C>T (p.Ser14Phe) rs905287265 0.00136
NM_007118.4(TRIO):c.6836-3C>T rs373420044 0.00104
NM_007118.4(TRIO):c.2874+6G>A rs151138656 0.00066
NM_007118.4(TRIO):c.1217A>G (p.Asn406Ser) rs138722140 0.00057
NM_007118.4(TRIO):c.5989G>A (p.Ala1997Thr) rs114451941 0.00040
NM_007118.4(TRIO):c.9277C>T (p.Leu3093Phe) rs145985294 0.00039
NM_007118.4(TRIO):c.8359A>T (p.Thr2787Ser) rs144114662 0.00037
NM_007118.4(TRIO):c.7397C>T (p.Pro2466Leu) rs373471708 0.00027
NM_007118.4(TRIO):c.2570A>G (p.Asn857Ser) rs199976501 0.00022
NM_007118.4(TRIO):c.2480G>A (p.Arg827His) rs370634993 0.00016
NM_007118.4(TRIO):c.6922A>G (p.Ser2308Gly) rs1460639961 0.00012
NM_007118.4(TRIO):c.8824C>G (p.Gln2942Glu) rs377248579 0.00009
NM_007118.4(TRIO):c.6776G>A (p.Arg2259Gln) rs750947029 0.00003
NM_007118.4(TRIO):c.7334C>T (p.Pro2445Leu) rs1300607085 0.00002
NM_007118.4(TRIO):c.7336C>T (p.Leu2446Phe) rs759324474 0.00001
NM_007118.4(TRIO):c.7853T>A (p.Ile2618Asn) rs750714090 0.00001
NM_007118.4(TRIO):c.7978C>T (p.Arg2660Trp) rs748596743 0.00001
NM_007118.4(TRIO):c.9112C>T (p.Arg3038Cys) rs1321773037 0.00001
NM_007118.4(TRIO):c.9257A>G (p.Lys3086Arg) rs1214523593 0.00001
NM_007118.4(TRIO):c.102G>C (p.Glu34Asp)
NM_007118.4(TRIO):c.1054A>G (p.Met352Val)
NM_007118.4(TRIO):c.106G>A (p.Ala36Thr)
NM_007118.4(TRIO):c.1081G>A (p.Gly361Ser)
NM_007118.4(TRIO):c.1130C>G (p.Ala377Gly)
NM_007118.4(TRIO):c.1132A>G (p.Met378Val)
NM_007118.4(TRIO):c.1267G>A (p.Ala423Thr)
NM_007118.4(TRIO):c.1321A>G (p.Ser441Gly)
NM_007118.4(TRIO):c.13A>G (p.Ser5Gly)
NM_007118.4(TRIO):c.179_183del (p.Met60fs) rs1795936426
NM_007118.4(TRIO):c.1883T>C (p.Leu628Pro)
NM_007118.4(TRIO):c.1931A>G (p.Glu644Gly) rs1554057613
NM_007118.4(TRIO):c.2077G>A (p.Glu693Lys)
NM_007118.4(TRIO):c.2135G>A (p.Arg712His)
NM_007118.4(TRIO):c.2177A>C (p.Asn726Thr)
NM_007118.4(TRIO):c.2243C>A (p.Thr748Asn)
NM_007118.4(TRIO):c.2289G>T (p.Gln763His)
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.2391+1G>A
NM_007118.4(TRIO):c.2391C>T (p.Asp797=)
NM_007118.4(TRIO):c.2449G>A (p.Asp817Asn)
NM_007118.4(TRIO):c.2941G>A (p.Asp981Asn)
NM_007118.4(TRIO):c.3104A>G (p.Lys1035Arg)
NM_007118.4(TRIO):c.3119G>A (p.Trp1040Ter) rs1554064863
NM_007118.4(TRIO):c.3199A>C (p.Lys1067Gln) rs1744892960
NM_007118.4(TRIO):c.3217-4T>A
NM_007118.4(TRIO):c.3232C>T (p.Arg1078Trp)
NM_007118.4(TRIO):c.3233G>A (p.Arg1078Gln) rs1745369142
NM_007118.4(TRIO):c.3277G>A (p.Val1093Met)
NM_007118.4(TRIO):c.3306C>G (p.Ile1102Met)
NM_007118.4(TRIO):c.3359A>G (p.Glu1120Gly) rs1745725808
NM_007118.4(TRIO):c.3638A>T (p.His1213Leu) rs1746645521
NM_007118.4(TRIO):c.3698T>C (p.Leu1233Pro)
NM_007118.4(TRIO):c.3916G>A (p.Ala1306Thr) rs1746765254
NM_007118.4(TRIO):c.3950C>G (p.Thr1317Arg) rs56051871
NM_007118.4(TRIO):c.4247A>G (p.Asn1416Ser)
NM_007118.4(TRIO):c.4292A>T (p.Lys1431Met) rs1747351918
NM_007118.4(TRIO):c.44C>T (p.Ser15Phe) rs1006366530
NM_007118.4(TRIO):c.4571A>G (p.Asp1524Gly) rs1554071179
NM_007118.4(TRIO):c.5225A>G (p.Asn1742Ser)
NM_007118.4(TRIO):c.5251G>T (p.Ala1751Ser)
NM_007118.4(TRIO):c.5274_5283del (p.Gly1759fs) rs1753758481
NM_007118.4(TRIO):c.5300A>G (p.Lys1767Arg)
NM_007118.4(TRIO):c.5419C>T (p.Arg1807Cys) rs1753778152
NM_007118.4(TRIO):c.5423A>G (p.Lys1808Arg)
NM_007118.4(TRIO):c.5587G>C (p.Gly1863Arg) rs1554083396
NM_007118.4(TRIO):c.5609C>T (p.Pro1870Leu)
NM_007118.4(TRIO):c.5756G>A (p.Ser1919Asn)
NM_007118.4(TRIO):c.5773G>T (p.Asp1925Tyr)
NM_007118.4(TRIO):c.5783G>C (p.Ser1928Thr)
NM_007118.4(TRIO):c.5834C>T (p.Ser1945Leu)
NM_007118.4(TRIO):c.58G>A (p.Ala20Thr)
NM_007118.4(TRIO):c.5969A>G (p.Tyr1990Cys)
NM_007118.4(TRIO):c.6257G>A (p.Arg2086His)
NM_007118.4(TRIO):c.6347A>G (p.Lys2116Arg)
NM_007118.4(TRIO):c.6365G>A (p.Ser2122Asn)
NM_007118.4(TRIO):c.6790C>G (p.His2264Asp)
NM_007118.4(TRIO):c.6820C>T (p.Arg2274Cys)
NM_007118.4(TRIO):c.6821G>A (p.Arg2274His) rs377126633
NM_007118.4(TRIO):c.6877GGC[7] (p.Gly2298dup) rs749785358
NM_007118.4(TRIO):c.6877GGC[8] (p.Gly2297_Gly2298dup) rs749785358
NM_007118.4(TRIO):c.6880_6903del (p.Gly2294_Gly2301del)
NM_007118.4(TRIO):c.6890G>A (p.Gly2297Asp)
NM_007118.4(TRIO):c.6904A>G (p.Ser2302Gly)
NM_007118.4(TRIO):c.6904_6915del (p.Ser2302_Gly2305del)
NM_007118.4(TRIO):c.6914G>T (p.Gly2305Val)
NM_007118.4(TRIO):c.6920G>A (p.Gly2307Asp)
NM_007118.4(TRIO):c.6929G>T (p.Gly2310Val) rs892410126
NM_007118.4(TRIO):c.7039C>T (p.His2347Tyr)
NM_007118.4(TRIO):c.7045C>T (p.Pro2349Ser)
NM_007118.4(TRIO):c.7048C>G (p.Pro2350Ala)
NM_007118.4(TRIO):c.7049C>A (p.Pro2350His)
NM_007118.4(TRIO):c.7051G>A (p.Val2351Met)
NM_007118.4(TRIO):c.7059CTC[1] (p.Ser2355del)
NM_007118.4(TRIO):c.7118G>A (p.Gly2373Glu)
NM_007118.4(TRIO):c.7136C>G (p.Pro2379Arg) rs781081298
NM_007118.4(TRIO):c.7150G>A (p.Glu2384Lys)
NM_007118.4(TRIO):c.7151A>C (p.Glu2384Ala)
NM_007118.4(TRIO):c.7162A>C (p.Ser2388Arg)
NM_007118.4(TRIO):c.7186G>C (p.Gly2396Arg)
NM_007118.4(TRIO):c.7193A>G (p.Asp2398Gly)
NM_007118.4(TRIO):c.7316C>A (p.Ala2439Asp)
NM_007118.4(TRIO):c.7348C>T (p.Arg2450Trp)
NM_007118.4(TRIO):c.7352C>A (p.Ala2451Asp)
NM_007118.4(TRIO):c.7354G>A (p.Gly2452Arg)
NM_007118.4(TRIO):c.7420C>T (p.Pro2474Ser)
NM_007118.4(TRIO):c.7424C>A (p.Pro2475His)
NM_007118.4(TRIO):c.7463C>T (p.Ser2488Phe)
NM_007118.4(TRIO):c.7475C>T (p.Ser2492Phe)
NM_007118.4(TRIO):c.7477C>T (p.Pro2493Ser)
NM_007118.4(TRIO):c.7487G>T (p.Arg2496Leu)
NM_007118.4(TRIO):c.7543C>G (p.Arg2515Gly)
NM_007118.4(TRIO):c.7550C>A (p.Ala2517Glu)
NM_007118.4(TRIO):c.7609G>T (p.Val2537Leu)
NM_007118.4(TRIO):c.7960A>T (p.Lys2654Ter) rs1756936101
NM_007118.4(TRIO):c.8342T>G (p.Met2781Arg)
NM_007118.4(TRIO):c.839A>G (p.Gln280Arg)
NM_007118.4(TRIO):c.8443C>G (p.Gln2815Glu) rs1554092927
NM_007118.4(TRIO):c.8459G>A (p.Arg2820Gln)
NM_007118.4(TRIO):c.8492T>C (p.Leu2831Ser)
NM_007118.4(TRIO):c.8500C>T (p.Arg2834Cys)
NM_007118.4(TRIO):c.8569G>A (p.Asp2857Asn)
NM_007118.4(TRIO):c.8624G>T (p.Gly2875Val)
NM_007118.4(TRIO):c.8703A>C (p.Glu2901Asp)
NM_007118.4(TRIO):c.8711G>A (p.Arg2904Gln)
NM_007118.4(TRIO):c.8821G>A (p.Val2941Ile)
NM_007118.4(TRIO):c.890C>T (p.Ser297Leu)
NM_007118.4(TRIO):c.968A>G (p.Gln323Arg) rs777932649

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