ClinVar Miner

List of variants reported as benign for autosomal dominant non-syndromic intellectual disability

Included ClinVar conditions (47):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 268
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HGVS dbSNP gnomAD frequency
NM_001220.5(CAMK2B):c.*2+97dup rs138799733 1.00000
NM_001220.5(CAMK2B):c.1176+106dup rs5883896 1.00000
NM_015981.4(CAMK2A):c.158-19A>C rs891938 0.99657
NM_005121.3(MED13):c.4320C>T (p.Asp1440=) rs671347 0.99338
NM_006734.4(HIVEP2):c.4613T>C (p.Leu1538Pro) rs109836 0.97172
NM_018489.3(ASH1L):c.5311A>G (p.Thr1771Ala) rs4971053 0.95641
NM_138459.5(NUS1):c.-16T>C rs9767451 0.94753
NM_015981.4(CAMK2A):c.1410T>C (p.Asp470=) rs2241694 0.94205
NM_018489.3(ASH1L):c.8293+58A>G rs4971051 0.93536
NM_007118.4(TRIO):c.5100A>C (p.Thr1700=) rs30612 0.88742
NM_004859.4(CLTC):c.2293-26T>C rs8065248 0.88365
NM_003011.4(SET):c.493-14C>T rs4836618 0.86614
NM_003011.4(SET):c.132-17C>T rs3750330 0.86565
NM_004859.4(CLTC):c.519+16T>G rs8071749 0.85772
NM_130797.4(DPP6):c.723A>G (p.Lys241=) rs3807218 0.82535
NM_001348323.3(TRIP12):c.2651-25C>T rs4972915 0.81767
NM_006734.4(HIVEP2):c.6885A>G (p.Pro2295=) rs169098 0.70641
NM_019842.4(KCNQ5):c.123C>G (p.Ser41=) rs3734212 0.56776
NM_001367534.1(CAMK2G):c.696+102_696+103insA rs3214931 0.55999
NM_007118.4(TRIO):c.5497-48C>T rs27100 0.52401
NM_001374828.1(ARID1B):c.2382G>A (p.Ala794=) rs3734441 0.52321
NM_004068.4(AP2M1):c.1173+73T>C rs843365 0.50341
NM_006852.6(TLK2):c.1872A>G (p.Pro624=) rs8078132 0.49542
NM_001367534.1(CAMK2G):c.275+69A>G rs2250140 0.47400
NM_001220.5(CAMK2B):c.1597+38C>T rs10951758 0.47114
NM_001374828.1(ARID1B):c.2248-35G>A rs3734440 0.46405
NM_015981.4(CAMK2A):c.1238-44G>A rs2241695 0.46240
NM_007118.4(TRIO):c.541-20G>A rs30629 0.44690
NM_001367534.1(CAMK2G):c.161-110A>G rs2664282 0.43889
NM_001367534.1(CAMK2G):c.147G>A (p.Lys49=) rs2675671 0.43799
NM_007118.4(TRIO):c.4398T>C (p.Asp1466=) rs30774 0.42642
NM_004068.4(AP2M1):c.75-4T>C rs2231216 0.40359
NM_001348323.3(TRIP12):c.2736A>G (p.Thr912=) rs13018957 0.38821
NM_001348323.3(TRIP12):c.2651-39A>C rs4973229 0.38648
NM_005862.3(STAG1):c.2457C>T (p.Phe819=) rs9860801 0.37660
NM_001348323.3(TRIP12):c.3482+15G>A rs6720868 0.36718
NM_001220.5(CAMK2B):c.1956C>T (p.Asn652=) rs1065359 0.35835
NM_015981.4(CAMK2A):c.1467-4A>G rs55976097 0.35152
NM_001220.5(CAMK2B):c.820-93A>T rs2075073 0.33981
NM_001220.5(CAMK2B):c.819+115T>C rs35663812 0.33921
NM_003072.5(SMARCA4):c.1524T>C (p.His508=) rs7935 0.32239
NM_007118.4(TRIO):c.4311+44G>A rs256412 0.31735
NM_001321075.3(DLG4):c.1167C>T (p.Ile389=) rs17203281 0.28275
NM_003072.5(SMARCA4):c.4887T>C (p.Asp1629=) rs7275 0.28266
NM_001220.5(CAMK2B):c.573T>C (p.Tyr191=) rs11542227 0.27378
NM_007118.4(TRIO):c.3033C>T (p.Asn1011=) rs13189406 0.22131
NM_057175.5(NAA15):c.1753+12del rs3217605 0.21617
NM_004068.4(AP2M1):c.960C>T (p.Ile320=) rs8478 0.18694
NM_007118.4(TRIO):c.5203+20G>A rs56207939 0.17811
NM_005121.3(MED13):c.470+23G>A rs4968467 0.15578
NM_001374828.1(ARID1B):c.4383-7A>G rs112318565 0.14423
NM_004068.4(AP2M1):c.1185G>A (p.Ala395=) rs2231224 0.11262
NM_024665.7(TBL1XR1):c.1416+25C>G rs16827730 0.10956
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_003072.5(SMARCA4):c.1944-19G>T rs74942410 0.06144
NM_006015.6(ARID1A):c.3199-95A>G rs76490152 0.06005
NM_006015.6(ARID1A):c.2420-18G>C rs34681611 0.05742
NM_006015.6(ARID1A):c.1351-22A>C rs41303629 0.05601
NM_003072.5(SMARCA4):c.4053C>T (p.Asp1351=) rs28997582 0.04598
NM_003072.5(SMARCA4):c.4584C>T (p.Asp1528=) rs9105 0.04127
NM_003072.5(SMARCA4):c.356-14A>G rs111447132 0.03865
NM_003072.5(SMARCA4):c.1413G>A (p.Lys471=) rs17001073 0.03431
NM_003072.5(SMARCA4):c.2123+12C>T rs17001090 0.03024
NM_003072.5(SMARCA4):c.1509A>G (p.Ala503=) rs17001075 0.03015
NM_001374828.1(ARID1B):c.5001G>A (p.Pro1667=) rs61738955 0.02808
NM_004068.4(AP2M1):c.707+56G>T rs2231220 0.02498
NM_018489.3(ASH1L):c.1318T>G (p.Cys440Gly) rs114218266 0.02209
NM_130797.4(DPP6):c.813G>A (p.Gln271=) rs61736427 0.02116
NM_007118.4(TRIO):c.5523C>T (p.Ser1841=) rs17500731 0.01857
NM_001374828.1(ARID1B):c.4893T>C (p.His1631=) rs61747988 0.01682
NM_007118.4(TRIO):c.6154-47G>A rs62345860 0.01662
NM_001374828.1(ARID1B):c.4864A>T (p.Met1622Leu) rs34870395 0.01518
NM_001374828.1(ARID1B):c.1927A>G (p.Ile643Val) rs17318151 0.01456
NM_003072.5(SMARCA4):c.915G>A (p.Pro305=) rs149573400 0.01397
NM_003072.5(SMARCA4):c.1419+8C>T rs115492175 0.01292
NM_004068.4(AP2M1):c.565+17G>A rs2231219 0.01250
NM_018489.3(ASH1L):c.4200C>T (p.Tyr1400=) rs112530764 0.01179
NM_003072.5(SMARCA4):c.1114T>C (p.Tyr372His) rs140192268 0.01034
NM_003072.5(SMARCA4):c.4635+12G>A rs34930626 0.01001
NM_001374828.1(ARID1B):c.3828G>A (p.Glu1276=) rs61745451 0.00966
NM_003072.5(SMARCA4):c.930C>A (p.Arg310=) rs146141457 0.00837
NM_003072.5(SMARCA4):c.4768+15G>C rs113131294 0.00813
NM_001374828.1(ARID1B):c.6291C>T (p.Ile2097=) rs112703040 0.00799
NM_001374828.1(ARID1B):c.2629C>T (p.Pro877Ser) rs114201726 0.00727
NM_001374828.1(ARID1B):c.5576A>C (p.Glu1859Ala) rs149518409 0.00727
NM_006015.6(ARID1A):c.5114A>G (p.Asn1705Ser) rs61756316 0.00698
NM_001374828.1(ARID1B):c.2137-3T>A rs116661275 0.00673
NM_001374828.1(ARID1B):c.3106G>A (p.Gly1036Ser) rs34786733 0.00590
NM_003072.5(SMARCA4):c.222+14T>C rs112825147 0.00548
NM_003072.5(SMARCA4):c.1419+7T>C rs112977340 0.00546
NM_001374828.1(ARID1B):c.612A>G (p.Gln204=) rs78253128 0.00509
NM_003072.5(SMARCA4):c.2388C>T (p.Leu796=) rs28997580 0.00508
NM_001374828.1(ARID1B):c.985G>A (p.Gly329Ser) rs375160616 0.00475
NM_006015.6(ARID1A):c.6586C>T (p.Leu2196=) rs149633292 0.00468
NM_003072.5(SMARCA4):c.4272G>A (p.Pro1424=) rs114882905 0.00462
NM_152641.4(ARID2):c.4300G>T (p.Ala1434Ser) rs150136669 0.00436
NM_003072.5(SMARCA4):c.4494C>T (p.Tyr1498=) rs139505007 0.00434
NM_003072.5(SMARCA4):c.3547-11T>C rs190104006 0.00408
NM_003072.5(SMARCA4):c.1119-12C>T rs113870824 0.00387
NM_001374828.1(ARID1B):c.3235+6C>T rs148976215 0.00384
NM_003072.5(SMARCA4):c.2001+8T>G rs112549813 0.00384
NM_003072.5(SMARCA4):c.1140C>T (p.His380=) rs114594206 0.00372
NM_006015.6(ARID1A):c.5001G>A (p.Pro1667=) rs116540923 0.00363
NM_001374828.1(ARID1B):c.4965C>T (p.Ile1655=) rs150010654 0.00340
NM_006015.6(ARID1A):c.2541C>A (p.Ile847=) rs151274586 0.00329
NM_001374828.1(ARID1B):c.3768C>T (p.Thr1256=) rs142391292 0.00312
NM_001374828.1(ARID1B):c.2187C>T (p.Pro729=) rs146240413 0.00310
NM_001374828.1(ARID1B):c.4812T>G (p.Pro1604=) rs141783755 0.00304
NM_007118.4(TRIO):c.5496+34G>A rs62345056 0.00304
NM_003072.5(SMARCA4):c.1740A>G (p.Lys580=) rs114391904 0.00291
NM_003072.5(SMARCA4):c.589C>T (p.Pro197Ser) rs200664441 0.00291
NM_001374828.1(ARID1B):c.6171C>T (p.Ile2057=) rs142499766 0.00260
NM_001374828.1(ARID1B):c.318G>A (p.Ala106=) rs533182720 0.00257
NM_001374828.1(ARID1B):c.1791+19G>C rs374013482 0.00249
NM_003072.5(SMARCA4):c.2275-3C>A rs117611401 0.00243
NM_003072.5(SMARCA4):c.2757C>T (p.Pro919=) rs113955216 0.00241
NM_003072.5(SMARCA4):c.981A>C (p.Pro327=) rs547268941 0.00233
NM_006015.6(ARID1A):c.1188C>T (p.Gly396=) rs61749356 0.00229
NM_001374828.1(ARID1B):c.1194A>C (p.Gly398=) rs112474841 0.00209
NM_003072.5(SMARCA4):c.*1G>T rs76118382 0.00205
NM_003072.5(SMARCA4):c.4768+10G>A rs201665695 0.00200
NM_006015.6(ARID1A):c.318C>T (p.Asn106=) rs551186176 0.00196
NM_003072.5(SMARCA4):c.4227A>G (p.Ser1409=) rs61761958 0.00191
NM_001374828.1(ARID1B):c.3681C>T (p.Tyr1227=) rs61736269 0.00189
NM_006015.6(ARID1A):c.135C>T (p.Ala45=) rs892415319 0.00168
NM_003072.5(SMARCA4):c.3045C>T (p.Gly1015=) rs56101423 0.00163
NM_001374828.1(ARID1B):c.3714+11G>A rs368322992 0.00159
NM_003072.5(SMARCA4):c.3663G>A (p.Lys1221=) rs61761957 0.00158
NM_006015.6(ARID1A):c.1351-82C>T rs41303627 0.00158
NM_003072.5(SMARCA4):c.258C>T (p.Asp86=) rs115992445 0.00153
NM_003072.5(SMARCA4):c.859+7T>A rs141461778 0.00138
NM_003072.5(SMARCA4):c.1419+9C>T rs374635008 0.00128
NM_002397.5(MEF2C):c.811-13C>T rs201988423 0.00113
NM_006015.6(ARID1A):c.5336A>G (p.Glu1779Gly) rs140946580 0.00112
NM_001374828.1(ARID1B):c.2654C>T (p.Ser885Leu) rs150140314 0.00108
NM_001374828.1(ARID1B):c.963C>T (p.Ala321=) rs533517668 0.00107
NM_006015.6(ARID1A):c.4869G>A (p.Ser1623=) rs148936933 0.00106
NM_003072.5(SMARCA4):c.3891C>G (p.Pro1297=) rs149562732 0.00103
NM_006015.6(ARID1A):c.4152C>T (p.His1384=) rs149908828 0.00100
NM_002397.5(MEF2C):c.834+15C>T rs140447603 0.00097
NM_006015.6(ARID1A):c.3716-7C>T rs150792057 0.00090
NM_006015.6(ARID1A):c.472C>T (p.Pro158Ser) rs567246585 0.00088
NM_001374828.1(ARID1B):c.5468A>G (p.Glu1823Gly) rs149841055 0.00081
NM_003072.5(SMARCA4):c.3927C>T (p.His1309=) rs148495641 0.00079
NM_006015.6(ARID1A):c.373G>A (p.Gly125Ser) rs536658556 0.00076
NM_001374828.1(ARID1B):c.2548G>A (p.Ala850Thr) rs147784000 0.00071
NM_152641.4(ARID2):c.1472C>G (p.Thr491Ser) rs149755754 0.00071
NM_006015.6(ARID1A):c.162C>T (p.Ala54=) rs1001634270 0.00068
NM_001374828.1(ARID1B):c.3072G>C (p.Ala1024=) rs148749268 0.00067
NM_003072.5(SMARCA4):c.223-5C>T rs376775933 0.00066
NM_001374828.1(ARID1B):c.1191C>A (p.Gly397=) rs184815562 0.00064
NM_002397.5(MEF2C):c.811-12G>A rs149706617 0.00064
NM_006015.6(ARID1A):c.3792C>T (p.Ala1264=) rs142429183 0.00061
NM_006015.6(ARID1A):c.3762C>T (p.Gly1254=) rs138814830 0.00060
NM_001374828.1(ARID1B):c.1534A>G (p.Met512Val) rs199948752 0.00058
NM_006015.6(ARID1A):c.1716G>A (p.Thr572=) rs147554664 0.00055
NM_002397.5(MEF2C):c.402+16A>G rs373582392 0.00050
NM_003072.5(SMARCA4):c.2817C>T (p.Phe939=) rs147791182 0.00047
NM_003072.5(SMARCA4):c.4171-13A>G rs201298366 0.00047
NM_003072.5(SMARCA4):c.708T>C (p.Pro236=) rs62639303 0.00044
NM_003072.5(SMARCA4):c.3738C>T (p.Phe1246=) rs139943231 0.00039
NM_006015.6(ARID1A):c.393G>C (p.Gly131=) rs768590350 0.00039
NM_001374828.1(ARID1B):c.3188A>T (p.Gln1063Leu) rs139620600 0.00038
NM_006015.6(ARID1A):c.5076C>T (p.Asn1692=) rs149468118 0.00038
NM_003072.5(SMARCA4):c.2973+14G>A rs372877301 0.00034
NM_006015.6(ARID1A):c.4779G>T (p.Arg1593=) rs140978841 0.00033
NM_006015.6(ARID1A):c.4879C>G (p.Pro1627Ala) rs151074395 0.00032
NM_006015.6(ARID1A):c.4053C>T (p.Gly1351=) rs200122106 0.00031
NM_003072.5(SMARCA4):c.4179G>A (p.Glu1393=) rs201879930 0.00030
NM_006015.6(ARID1A):c.6659A>G (p.Asn2220Ser) rs139576809 0.00029
NM_006015.6(ARID1A):c.1266C>T (p.Tyr422=) rs144272459 0.00027
NM_006015.6(ARID1A):c.1131C>T (p.Thr377=) rs532591067 0.00026
NM_001374828.1(ARID1B):c.3997C>G (p.Leu1333Val) rs138482029 0.00025
NM_001374828.1(ARID1B):c.7023C>T (p.His2341=) rs183572405 0.00023
NM_003072.5(SMARCA4):c.4512C>T (p.Pro1504=) rs145435121 0.00023
NM_006015.6(ARID1A):c.2139A>G (p.Pro713=) rs779283100 0.00023
NM_003072.5(SMARCA4):c.3558G>A (p.Ala1186=) rs140322802 0.00022
NM_003072.5(SMARCA4):c.747C>T (p.Tyr249=) rs756224211 0.00021
NM_003072.5(SMARCA4):c.1099C>T (p.Leu367=) rs372379166 0.00017
NM_006015.6(ARID1A):c.759C>G (p.Pro253=) rs747694475 0.00017
NM_003072.5(SMARCA4):c.441C>T (p.Ser147=) rs201372858 0.00016
NM_003072.5(SMARCA4):c.4692C>T (p.Ile1564=) rs746415437 0.00015
NM_003072.5(SMARCA4):c.2739G>A (p.Pro913=) rs183695281 0.00014
NM_005144.5(HR):c.3470C>G (p.Pro1157Arg) rs201030061 0.00014
NM_001374828.1(ARID1B):c.1881G>A (p.Pro627=) rs142939952 0.00013
NM_003072.5(SMARCA4):c.2409T>C (p.Asn803=) rs199634608 0.00012
NM_002397.5(MEF2C):c.642C>T (p.Asn214=) rs79455305 0.00011
NM_003072.5(SMARCA4):c.1557C>T (p.Asn519=) rs2288845 0.00011
NM_006015.6(ARID1A):c.2988+36G>A rs372175005 0.00011
NM_002397.5(MEF2C):c.1207A>G (p.Thr403Ala) rs753002290 0.00010
NM_002397.5(MEF2C):c.180C>T (p.Thr60=) rs773278207 0.00010
NM_003072.5(SMARCA4):c.4011C>T (p.Leu1337=) rs377720149 0.00010
NM_003072.5(SMARCA4):c.4293C>T (p.Arg1431=) rs149670457 0.00009
NM_002397.5(MEF2C):c.363C>T (p.Asn121=) rs186648089 0.00008
NM_003072.5(SMARCA4):c.4344C>T (p.Ala1448=) rs200087760 0.00008
NM_006015.6(ARID1A):c.4751A>G (p.Gln1584Arg) rs558739370 0.00008
NM_003072.5(SMARCA4):c.3669C>T (p.Asn1223=) rs28997581 0.00007
NM_006015.6(ARID1A):c.268A>G (p.Ser90Gly) rs752026201 0.00007
NM_001374828.1(ARID1B):c.4674G>A (p.Pro1558=) rs566865279 0.00006
NM_003072.5(SMARCA4):c.761-5T>C rs543702763 0.00006
NM_006015.6(ARID1A):c.2123A>C (p.Gln708Pro) rs367889013 0.00006
NM_003072.5(SMARCA4):c.1803G>A (p.Pro601=) rs751166438 0.00005
NM_006015.6(ARID1A):c.5311C>T (p.Pro1771Ser) rs187631645 0.00005
NM_002397.5(MEF2C):c.258+10C>T rs563149132 0.00004
NM_003072.5(SMARCA4):c.1209G>A (p.Glu403=) rs200159174 0.00004
NM_003072.5(SMARCA4):c.2199C>T (p.Ala733=) rs538629432 0.00004
NM_003072.5(SMARCA4):c.3765G>A (p.Glu1255=) rs183060137 0.00004
NM_006015.6(ARID1A):c.3870G>A (p.Thr1290=) rs753683399 0.00004
NM_003072.5(SMARCA4):c.2974-4G>A rs766593089 0.00003
NM_003072.5(SMARCA4):c.3066C>T (p.Ser1022=) rs149111403 0.00003
NM_003072.5(SMARCA4):c.2617-4G>A rs201020451 0.00002
NM_003072.5(SMARCA4):c.4872G>A (p.Pro1624=) rs182644267 0.00002
NM_002397.5(MEF2C):c.1021G>A (p.Ala341Thr) rs797045703 0.00001
NM_002397.5(MEF2C):c.499C>T (p.Pro167Ser) rs1322552264 0.00001
NM_002397.5(MEF2C):c.730A>G (p.Met244Val) rs752349182 0.00001
NM_002397.5(MEF2C):c.963C>T (p.Thr321=) rs1363064582 0.00001
NM_003072.5(SMARCA4):c.2347C>T (p.Leu783=) rs762449855 0.00001
NM_003072.5(SMARCA4):c.2637T>C (p.Ile879=) rs369795542 0.00001
NM_003072.5(SMARCA4):c.4251C>T (p.Ser1417=) rs377057304 0.00001
NM_003072.5(SMARCA4):c.54G>A (p.Pro18=) rs529632222 0.00001
NM_006015.6(ARID1A):c.6709G>A (p.Ala2237Thr) rs746165075 0.00001
NM_152641.4(ARID2):c.4769C>T (p.Pro1590Leu) rs765441891 0.00001
NM_001220.5(CAMK2B):c.*2+103dup rs149624128
NM_001220.5(CAMK2B):c.1791G>A (p.Pro597=) rs1127065
NM_001220.5(CAMK2B):c.582T>C (p.Pro194=) rs11542228
NM_001321075.3(DLG4):c.30+18G>A
NM_001348323.3(TRIP12):c.1133+21del rs11373804
NM_001367534.1(CAMK2G):c.696+49del rs67135801
NM_001374828.1(ARID1B):c.2137-3dup rs541477699
NM_001374828.1(ARID1B):c.3330C>T (p.Pro1110=) rs752231248
NM_001374828.1(ARID1B):c.591GCA[9] (p.Gln213_Gln214dup) rs587779743
NM_001374828.1(ARID1B):c.954C>T (p.Gly318=) rs745740327
NM_002397.5(MEF2C):c.1029C>G (p.His343Gln) rs796052727
NM_002397.5(MEF2C):c.1087C>T (p.Leu363Phe) rs2152207244
NM_002397.5(MEF2C):c.1100+6C>G rs1759908843
NM_002397.5(MEF2C):c.1331A>C (p.His444Pro) rs1554098567
NM_002397.5(MEF2C):c.1385T>C (p.Val462Ala) rs1194300256
NM_002397.5(MEF2C):c.375T>G (p.Asp125Glu) rs2152673396
NM_002397.5(MEF2C):c.439A>G (p.Ile147Val)
NM_002397.5(MEF2C):c.539A>G (p.Asn180Ser)
NM_002397.5(MEF2C):c.557T>C (p.Val186Ala) rs1561821810
NM_002397.5(MEF2C):c.589G>C (p.Gly197Arg) rs1310323196
NM_002397.5(MEF2C):c.638-14dup rs754587449
NM_002397.5(MEF2C):c.638-9del
NM_002397.5(MEF2C):c.694T>G (p.Leu232Val) rs2152280607
NM_002397.5(MEF2C):c.965-6_965-2del rs1064795146
NM_003072.5(SMARCA4):c.120C>T (p.His40=) rs375884151
NM_003072.5(SMARCA4):c.1944-12C>T rs149763341
NM_003072.5(SMARCA4):c.223-4G>A rs763383326
NM_003072.5(SMARCA4):c.2580C>T (p.Tyr860=) rs776649185
NM_003072.5(SMARCA4):c.2763C>T (p.Leu921=) rs574844383
NM_003072.5(SMARCA4):c.4458C>T (p.Ile1486=) rs550796495
NM_003072.5(SMARCA4):c.459G>A (p.Pro153=) rs372931195
NM_003072.5(SMARCA4):c.4773G>A (p.Arg1591=) rs568650875
NM_003072.5(SMARCA4):c.942G>A (p.Ala314=) rs567283924
NM_004068.4(AP2M1):c.340+56G>A rs2231217
NM_006015.6(ARID1A):c.114GGC[6] (p.Ala45dup) rs587779737
NM_006015.6(ARID1A):c.2252-97A>T rs113319329
NM_006015.6(ARID1A):c.3978GCA[9] (p.Gln1334dup) rs374564889
NM_006015.6(ARID1A):c.4994-20G>C rs113553273
NM_006015.6(ARID1A):c.5287GAA[4] (p.Glu1767del) rs753766136
NM_006015.6(ARID1A):c.5717G>A (p.Arg1906Gln) rs41303631
NM_006015.6(ARID1A):c.581C>T (p.Pro194Leu) rs764060744
NM_015981.4(CAMK2A):c.1467-87A>T rs17712679
NM_017635.5(KMT5B):c.544-19dup rs3832715
NM_019842.4(KCNQ5):c.204C>T (p.Leu68=) rs34821312

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