ClinVar Miner

List of variants studied for Syndromic intellectual disability

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Total variants: 74
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HGVS dbSNP gnomAD frequency
NM_001377265.1(MAPT):c.*1145_*1146insT rs1491446284 0.40313
NM_015443.4(KANSL1):c.-90+8C>T rs72836333 0.35522
NM_015443.4(KANSL1):c.3029C>T (p.Pro1010Leu) rs7220988 0.34127
NM_001377265.1(MAPT):c.*1101A>G rs1052590 0.14499
NM_001377265.1(MAPT):c.*1759T>C rs7687 0.14487
NM_001377265.1(MAPT):c.*2806A>C rs2158257 0.14473
NM_001377265.1(MAPT):c.*1067T>C rs1052587 0.14468
NM_001377265.1(MAPT):c.*2972T>C rs17574228 0.14466
NM_001377265.1(MAPT):c.*2079C>T rs17652748 0.14441
NM_015443.4(KANSL1):c.2742C>T (p.Asp914=) rs35833914 0.14434
NM_015443.4(KANSL1):c.2751C>T (p.Phe917=) rs36076725 0.14426
NM_015443.4(KANSL1):c.*742G>A rs7350928 0.12614
NM_001377265.1(MAPT):c.*1152G>C rs1052594 0.12578
NM_001377265.1(MAPT):c.*2269G>T rs73317039 0.03265
NM_001377265.1(MAPT):c.*3848A>G rs114213384 0.03189
NM_001377265.1(MAPT):c.*1047C>T rs113815715 0.02477
NM_001377265.1(MAPT):c.*2810G>A rs2158256 0.02237
NM_001377265.1(MAPT):c.*2167G>A rs16940802 0.01564
NM_001377265.1(MAPT):c.*2991C>T rs141337757 0.01116
NM_001377265.1(MAPT):c.*3435T>C rs186977284 0.00544
NM_001377265.1(MAPT):c.*2956T>C rs181844055 0.00514
NM_015443.4(KANSL1):c.*1196T>G rs137970866 0.00488
NM_015443.4(KANSL1):c.*954C>G rs150500194 0.00393
NM_015443.4(KANSL1):c.*1027C>G rs11870461 0.00390
NM_015443.4(KANSL1):c.*34_*37del rs373668834 0.00257
NM_001377265.1(MAPT):c.*3377G>C rs540687358 0.00235
NM_001377265.1(MAPT):c.*1721C>T rs186042163 0.00190
NM_015443.4(KANSL1):c.*217C>T rs140200874 0.00136
NM_001112.4(ADARB1):c.1397-354A>G rs544025652 0.00113
NM_001377265.1(MAPT):c.*3570T>C rs567899904 0.00098
NM_001377265.1(MAPT):c.*1465C>T rs189665411 0.00039
NM_015443.4(KANSL1):c.*626T>C rs533537317 0.00022
NM_001377265.1(MAPT):c.*3810G>A rs140613804 0.00007
NM_001378414.1(HDAC4):c.3211G>A (p.Val1071Met) rs766000387 0.00004
NM_001377265.1(MAPT):c.*3133A>G rs191084195 0.00002
NM_024725.4(CCDC82):c.535C>T (p.Arg179Ter) rs758691852 0.00002
NM_139315.3(TAF6):c.212T>C (p.Ile71Thr) rs374993554 0.00002
NM_001112.4(ADARB1):c.1101G>C (p.Lys367Asn) rs778818769 0.00001
NM_001377265.1(MAPT):c.*1670C>T rs535931288 0.00001
NM_001377265.1(MAPT):c.*4154T>C rs377535401 0.00001
GRCh38/hg38 19q13.2(chr19:41987984-42252574)x1
GRCh38/hg38 19q13.2(chr19:42198610-42249880)x1
NC_000019.10:g.41983952_42247520del
NM_001042424.3(NSD2):c.1363_1364dup (p.Asp455fs) rs2108805708
NM_001244008.2(KIF1A):c.646C>T (p.Arg216Cys) rs797045164
NM_001303052.2(MYT1L):c.1808G>T (p.Arg603Leu) rs1264319963
NM_001377265.1(MAPT):c.*1039C>T rs568260584
NM_001377265.1(MAPT):c.*1404T>C rs530779128
NM_001377265.1(MAPT):c.*3078=
NM_001379291.1(BRD4):c.3666_3672dup (p.Glu1225fs) rs2145499914
NM_001923.5(DDB1):c.2578A>G (p.Thr860Ala) rs757118401
NM_005048.4(PTH2R):c.473C>T (p.Ser158Phe) rs1553546045
NM_005639.3(SYT1):c.1098C>G (p.Asp366Glu) rs1565962725
NM_006766.5(KAT6A):c.3116_3117del (p.Ile1038_Ser1039insTer) rs786200959
NM_006766.5(KAT6A):c.3879dup (p.Glu1294fs) rs786200952
NM_015443.4(KANSL1):c.*1028T>C rs375427074
NM_015443.4(KANSL1):c.*1103dup rs142756815
NM_015443.4(KANSL1):c.*1234_*1235dup rs140510364
NM_015443.4(KANSL1):c.*1328del rs71665335
NM_015443.4(KANSL1):c.*1354del rs67641084
NM_015443.4(KANSL1):c.*1354dup rs67641084
NM_015443.4(KANSL1):c.*1520del rs67801660
NM_015443.4(KANSL1):c.*1520dup rs67801660
NM_015443.4(KANSL1):c.*1551del rs767830420
NM_015443.4(KANSL1):c.*28ACTA[1] rs767896466
NM_015443.4(KANSL1):c.*359_*360insAGAGGGC rs113448888
NM_015443.4(KANSL1):c.*388G>T rs367998611
NM_015443.4(KANSL1):c.*885del rs5820607
NM_015443.4(KANSL1):c.-90+19C>G rs1057516026
NM_015443.4(KANSL1):c.-90+24CCT[3] rs143625699
NM_015443.4(KANSL1):c.-90+55_-90+57del rs534448299
NM_017934.7(PHIP):c.3892C>T (p.Arg1298Ter) rs759380520
NM_020940.4(FHIP2A):c.115G>T (p.Glu39Ter) rs1592013653
NM_138383.3(MTSS2):c.2011C>T (p.Arg671Trp) rs753688777

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