ClinVar Miner

List of variants reported as benign for developmental and epileptic encephalopathy, 36 by Invitae

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 86
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HGVS dbSNP gnomAD frequency
NM_001099922.3(ALG13):c.1435+5A>T rs5985638 0.26139
NM_001099922.3(ALG13):c.1293A>G (p.Pro431=) rs7063657 0.10892
NM_001099922.3(ALG13):c.1266T>C (p.Gly422=) rs5985637 0.01375
NM_001099922.3(ALG13):c.183C>T (p.Tyr61=) rs146925326 0.00950
NM_001099922.3(ALG13):c.2401+12C>A rs150294098 0.00767
NM_001099922.3(ALG13):c.1152G>A (p.Ala384=) rs145353928 0.00643
NM_001099922.3(ALG13):c.3039A>G (p.Val1013=) rs183032531 0.00394
NM_001099922.3(ALG13):c.2672C>T (p.Ser891Phe) rs200066623 0.00390
NM_001099922.3(ALG13):c.2248-4A>G rs370438099 0.00325
NM_001099922.3(ALG13):c.2898T>C (p.Tyr966=) rs368002375 0.00247
NM_001099922.3(ALG13):c.2617G>C (p.Ala873Pro) rs142841538 0.00166
NM_001099922.3(ALG13):c.150C>T (p.Pro50=) rs147897682 0.00102
NM_001099922.3(ALG13):c.3414A>C (p.Ter1138Tyr) rs201820102 0.00089
NM_001099922.3(ALG13):c.1591T>C (p.Leu531=) rs112837367 0.00085
NM_001099922.3(ALG13):c.3093A>G (p.Gln1031=) rs372260338 0.00065
NM_001099922.3(ALG13):c.1843C>T (p.Leu615=) rs374231091 0.00060
NM_001099922.3(ALG13):c.3358A>G (p.Ile1120Val) rs369167525 0.00058
NM_001099922.3(ALG13):c.1327-19A>G rs375412069 0.00048
NM_001099922.3(ALG13):c.3399A>G (p.Val1133=) rs372982045 0.00047
NM_001099922.3(ALG13):c.1006-14G>A rs760527824 0.00045
NM_001099922.3(ALG13):c.1971G>A (p.Met657Ile) rs1290639452 0.00039
NM_001099922.3(ALG13):c.2248-15G>C rs139711892 0.00039
NM_001099922.3(ALG13):c.1729+14A>G rs763484848 0.00036
NM_001099922.3(ALG13):c.104A>G (p.Asn35Ser) rs149808406 0.00035
NM_001099922.3(ALG13):c.3008A>G (p.Tyr1003Cys) rs201055779 0.00024
NM_001099922.3(ALG13):c.886-16C>A rs780688383 0.00023
NM_001099922.3(ALG13):c.2933-14A>G rs755886617 0.00021
NM_001099922.3(ALG13):c.2269A>G (p.Met757Val) rs1451116623 0.00020
NM_001099922.3(ALG13):c.2654T>C (p.Ile885Thr) rs781459134 0.00015
NM_001099922.3(ALG13):c.2606C>T (p.Ala869Val) rs138712375 0.00012
NM_001099922.3(ALG13):c.2685C>T (p.His895=) rs374572450 0.00012
NM_001099922.3(ALG13):c.2309G>A (p.Gly770Glu) rs751478782 0.00010
NM_001099922.3(ALG13):c.1089T>C (p.Ala363=) rs760208274 0.00009
NM_001099922.3(ALG13):c.2933-15G>T rs372767806 0.00008
NM_001099922.3(ALG13):c.384-5C>T rs763318921 0.00008
NM_001099922.3(ALG13):c.975T>G (p.Thr325=) rs767735916 0.00008
NM_001099922.3(ALG13):c.288C>T (p.Leu96=) rs369867857 0.00007
NM_001099922.3(ALG13):c.2369-19T>C rs376719251 0.00006
NM_001099922.3(ALG13):c.42C>A (p.Asp14Glu) rs200293248 0.00006
NM_001099922.3(ALG13):c.108A>G (p.Arg36=) rs769838471 0.00005
NM_001099922.3(ALG13):c.2385A>G (p.Glu795=) rs759719376 0.00005
NM_001099922.3(ALG13):c.857A>G (p.Lys286Arg) rs765500818 0.00005
NM_001099922.3(ALG13):c.978T>C (p.Tyr326=) rs375739139 0.00005
NM_001099922.3(ALG13):c.1435+20A>G rs368555602 0.00004
NM_001099922.3(ALG13):c.2266A>G (p.Thr756Ala) rs748648454 0.00004
NM_001099922.3(ALG13):c.2616A>G (p.Gln872=) rs764400701 0.00004
NM_001099922.3(ALG13):c.3132G>A (p.Ala1044=) rs376626719 0.00004
NM_001099922.3(ALG13):c.2037A>G (p.Pro679=) rs764270660 0.00003
NM_001099922.3(ALG13):c.2012C>T (p.Pro671Leu) rs770150113 0.00002
NM_001099922.3(ALG13):c.2278G>T (p.Ala760Ser) rs773286994 0.00002
NM_001099922.3(ALG13):c.2369G>A (p.Gly790Glu) rs745411126 0.00002
NM_001099922.3(ALG13):c.3058A>G (p.Thr1020Ala) rs3027818 0.00002
NM_001099922.3(ALG13):c.360T>C (p.Gly120=) rs747837898 0.00002
NM_001099922.3(ALG13):c.378C>T (p.Thr126=) rs777042118 0.00002
NM_001099922.3(ALG13):c.419C>T (p.Ala140Val) rs373025706 0.00002
NM_001099922.3(ALG13):c.995A>G (p.Tyr332Cys) rs370098098 0.00002
NM_001099922.3(ALG13):c.1064A>G (p.Gln355Arg) rs372521943 0.00001
NM_001099922.3(ALG13):c.1641A>G (p.Gln547=) rs768589790 0.00001
NM_001099922.3(ALG13):c.2932+17A>G rs760993782 0.00001
NM_001099922.3(ALG13):c.486T>C (p.Phe162=) rs751015058 0.00001
NM_001099922.3(ALG13):c.1186A>C (p.Arg396=)
NM_001099922.3(ALG13):c.1250+8del rs2148114059
NM_001099922.3(ALG13):c.1601+11G>A rs770867470
NM_001099922.3(ALG13):c.1818G>A (p.Lys606=)
NM_001099922.3(ALG13):c.2145T>C (p.Tyr715=)
NM_001099922.3(ALG13):c.2248-14TC[2] rs746217514
NM_001099922.3(ALG13):c.2380GAA[1] (p.Glu795del) rs772766102
NM_001099922.3(ALG13):c.2457+15_2457+17del rs761459857
NM_001099922.3(ALG13):c.2457+16T>C
NM_001099922.3(ALG13):c.2457+17A>C
NM_001099922.3(ALG13):c.2754ACC[13] (p.Pro944_Pro945del) rs750710267
NM_001099922.3(ALG13):c.2754ACC[17] (p.Pro944_Pro945dup) rs750710267
NM_001099922.3(ALG13):c.2797CCT[11] (p.Pro944_Pro945del) rs56717389
NM_001099922.3(ALG13):c.2797CCT[14] (p.Pro945dup) rs56717389
NM_001099922.3(ALG13):c.2797CCT[9] (p.Pro942_Pro945del) rs56717389
NM_001099922.3(ALG13):c.2798_2799insACCTCC (p.Pro944_Pro945dup) rs1569522034
NM_001099922.3(ALG13):c.2860A>G (p.Asn954Asp)
NM_001099922.3(ALG13):c.288C>G (p.Leu96=)
NM_001099922.3(ALG13):c.2987G>A (p.Ser996Asn)
NM_001099922.3(ALG13):c.3221A>G (p.Tyr1074Cys) rs372990620
NM_001099922.3(ALG13):c.3343A>G (p.Ile1115Val)
NM_001099922.3(ALG13):c.383+8A>G
NM_001099922.3(ALG13):c.801A>G (p.Ser267=)
NM_001099922.3(ALG13):c.82-10C>T
NM_001099922.3(ALG13):c.834+14A>G
NM_001099922.3(ALG13):c.880C>T (p.Pro294Ser) rs753556936

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