ClinVar Miner

List of variants reported as uncertain significance for autosomal dominant non-syndromic intellectual disability by Baylor Genetics

Included ClinVar conditions (47):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 133
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HGVS dbSNP gnomAD frequency
NM_003073.5(SMARCB1):c.628+13C>T rs184021903 0.00235
NM_138459.5(NUS1):c.506C>G (p.Pro169Arg) rs150646335 0.00116
NM_019842.4(KCNQ5):c.1575C>A (p.Ile525=) rs777386945 0.00014
NM_018489.3(ASH1L):c.7763A>G (p.Tyr2588Cys) rs749649980 0.00012
NM_001374828.1(ARID1B):c.1379G>T (p.Gly460Val) rs1274183370 0.00006
NM_003072.5(SMARCA4):c.3383-5G>A rs762528243 0.00006
NM_006734.4(HIVEP2):c.4465C>G (p.Arg1489Gly) rs768721723 0.00006
NM_001348323.3(TRIP12):c.703A>G (p.Ile235Val) rs780999801 0.00003
NM_001386298.1(CIC):c.6190G>A (p.Ala2064Thr) rs148703020 0.00003
NM_003072.5(SMARCA4):c.4826T>C (p.Leu1609Pro) rs755493468 0.00003
NM_018489.3(ASH1L):c.4601A>G (p.His1534Arg) rs776962103 0.00003
NM_130797.4(DPP6):c.88G>A (p.Gly30Ser) rs1217247861 0.00003
NM_001348323.3(TRIP12):c.989C>T (p.Ser330Leu) rs779389307 0.00002
NM_001374828.1(ARID1B):c.1876A>G (p.Ser626Gly) rs1214970789 0.00002
NM_001374828.1(ARID1B):c.3752A>G (p.Asn1251Ser) rs1408001716 0.00002
NM_001374828.1(ARID1B):c.5912C>T (p.Pro1971Leu) rs962264300 0.00002
NM_001386298.1(CIC):c.5302A>G (p.Thr1768Ala) rs779776509 0.00002
NM_003072.5(SMARCA4):c.661C>A (p.Pro221Thr) rs1417452362 0.00002
NM_005862.3(STAG1):c.471+4T>G rs1308814193 0.00002
NM_006015.6(ARID1A):c.1430A>G (p.His477Arg) rs757458581 0.00002
NM_006015.6(ARID1A):c.1712C>T (p.Ser571Leu) rs969170076 0.00002
NM_006734.4(HIVEP2):c.1913A>G (p.Tyr638Cys) rs745452954 0.00002
NM_018489.3(ASH1L):c.5051G>A (p.Arg1684Gln) rs1280114281 0.00002
NM_001348323.3(TRIP12):c.4253G>A (p.Arg1418Lys) rs1157793506 0.00001
NM_001374828.1(ARID1B):c.1334C>T (p.Ser445Phe) rs1380676072 0.00001
NM_001374828.1(ARID1B):c.1897T>C (p.Tyr633His) rs747306459 0.00001
NM_001374828.1(ARID1B):c.2909C>T (p.Pro970Leu) rs1057521656 0.00001
NM_001374828.1(ARID1B):c.6172G>A (p.Ala2058Thr) rs772464386 0.00001
NM_001374828.1(ARID1B):c.6784G>A (p.Ala2262Thr) rs1413279513 0.00001
NM_001386298.1(CIC):c.5455C>T (p.Pro1819Ser) rs778737030 0.00001
NM_006015.6(ARID1A):c.2320C>T (p.Arg774Cys) rs1466882490 0.00001
NM_006015.6(ARID1A):c.2756A>G (p.Asn919Ser) rs1250258763 0.00001
NM_006015.6(ARID1A):c.326C>G (p.Pro109Arg) rs1167372383 0.00001
NM_006015.6(ARID1A):c.3539+5G>A rs750030197 0.00001
NM_006015.6(ARID1A):c.4631C>T (p.Ser1544Leu) rs1326693674 0.00001
NM_006015.6(ARID1A):c.4792C>T (p.Arg1598Cys) rs781689378 0.00001
NM_006734.4(HIVEP2):c.2156C>T (p.Thr719Ile) rs780128851 0.00001
NM_006734.4(HIVEP2):c.3212C>T (p.Pro1071Leu) rs1327649883 0.00001
NM_006734.4(HIVEP2):c.4022A>C (p.His1341Pro) rs998840629 0.00001
NM_006734.4(HIVEP2):c.967A>G (p.Met323Val) rs1473641774 0.00001
NM_007118.4(TRIO):c.3559A>G (p.Ile1187Val) rs950757813 0.00001
NM_017635.5(KMT5B):c.1616G>A (p.Arg539Gln) rs367596003 0.00001
NM_018489.3(ASH1L):c.2162A>C (p.Lys721Thr) rs767107285 0.00001
NM_018489.3(ASH1L):c.4835G>C (p.Gly1612Ala) rs1207751518 0.00001
NM_152641.4(ARID2):c.2556G>T (p.Gln852His) rs769786026 0.00001
NM_001039350.3(DPP6):c.19A>G (p.Ile7Val) rs1798992983
NM_001348323.3(TRIP12):c.3835A>G (p.Ile1279Val) rs764732335
NM_001348323.3(TRIP12):c.5308A>G (p.Met1770Val) rs1428800056
NM_001348323.3(TRIP12):c.5429C>T (p.Ser1810Leu) rs2036612429
NM_001348323.3(TRIP12):c.6126_6128delinsTT (p.Tyr2043fs)
NM_001367534.1(CAMK2G):c.1534+149C>A
NM_001374828.1(ARID1B):c.1114G>A (p.Gly372Arg) rs926297805
NM_001374828.1(ARID1B):c.4480-8A>G rs1252519291
NM_001374828.1(ARID1B):c.4637A>G (p.Tyr1546Cys) rs1794051416
NM_001374828.1(ARID1B):c.5026G>T (p.Ala1676Ser) rs1794096456
NM_001374828.1(ARID1B):c.5182G>A (p.Glu1728Lys) rs976192470
NM_001374828.1(ARID1B):c.895G>A (p.Ala299Thr) rs1323525221
NM_001386298.1(CIC):c.3031T>C (p.Cys1011Arg) rs2037707528
NM_001386298.1(CIC):c.3974C>T (p.Pro1325Leu) rs2037898729
NM_001386298.1(CIC):c.4419G>T (p.Gln1473His) rs1599911754
NM_001386298.1(CIC):c.4946C>T (p.Pro1649Leu) rs2038053328
NM_001386298.1(CIC):c.6188G>C (p.Ser2063Thr) rs2038240262
NM_001386298.1(CIC):c.6747G>A (p.Lys2249=) rs2038327689
NM_001386298.1(CIC):c.7407C>G (p.Thr2469=) rs2038417716
NM_001386298.1(CIC):c.7416C>G (p.Ser2472Arg)
NM_002397.5(MEF2C):c.1319G>A (p.Arg440Gln) rs1360994640
NM_003011.4(SET):c.73+351A>T rs1190048179
NM_003072.5(SMARCA4):c.*4_*5dup rs2076919180
NM_003072.5(SMARCA4):c.1348G>T (p.Ala450Ser) rs1204677224
NM_003072.5(SMARCA4):c.3608G>A (p.Arg1203His) rs770680174
NM_003072.5(SMARCA4):c.4303G>A (p.Asp1435Asn) rs796506759
NM_003072.5(SMARCA4):c.679G>A (p.Ala227Thr) rs769096295
NM_003072.5(SMARCA4):c.989C>T (p.Thr330Ile) rs1555755082
NM_003073.5(SMARCB1):c.1089G>T (p.Lys363Asn) rs1568963037
NM_003073.5(SMARCB1):c.110G>A (p.Arg37His) rs398122368
NM_003073.5(SMARCB1):c.487A>G (p.Thr163Ala) rs1929117173
NM_003079.5(SMARCE1):c.1009A>T (p.Asn337Tyr) rs2037085057
NM_003079.5(SMARCE1):c.1036C>A (p.His346Asn) rs751700497
NM_003108.4(SOX11):c.1147G>T (p.Gly383Cys) rs1665683367
NM_003108.4(SOX11):c.787C>A (p.Pro263Thr) rs745675837
NM_004859.4(CLTC):c.1180A>G (p.Thr394Ala) rs1598223846
NM_004859.4(CLTC):c.2909T>C (p.Leu970Pro)
NM_005121.3(MED13):c.1523T>A (p.Phe508Tyr)
NM_005121.3(MED13):c.2126T>C (p.Phe709Ser) rs2080337191
NM_005121.3(MED13):c.4256G>T (p.Gly1419Val)
NM_005121.3(MED13):c.700G>A (p.Gly234Ser)
NM_005862.3(STAG1):c.1442C>A (p.Ala481Glu) rs2088687467
NM_005862.3(STAG1):c.1919A>G (p.Tyr640Cys) rs773332391
NM_005862.3(STAG1):c.2077T>C (p.Ser693Pro) rs1296664528
NM_005862.3(STAG1):c.2254A>C (p.Ile752Leu) rs2087239249
NM_005862.3(STAG1):c.2285T>C (p.Leu762Ser) rs1937685841
NM_005862.3(STAG1):c.2306T>C (p.Val769Ala) rs867178690
NM_005862.3(STAG1):c.253G>A (p.Val85Ile) rs1559904167
NM_005862.3(STAG1):c.42_44dup (p.Asn14_Glu15insAsp) rs1939944359
NM_006015.6(ARID1A):c.197C>G (p.Pro66Arg) rs2080256530
NM_006015.6(ARID1A):c.2380G>A (p.Gly794Arg) rs2080999624
NM_006015.6(ARID1A):c.2630C>T (p.Pro877Leu) rs2081008426
NM_006015.6(ARID1A):c.289G>A (p.Glu97Lys) rs2080258690
NM_006015.6(ARID1A):c.3049G>A (p.Glu1017Lys) rs2081052425
NM_006015.6(ARID1A):c.3276G>T (p.Leu1092Phe) rs2081080248
NM_006015.6(ARID1A):c.4114C>A (p.Pro1372Thr) rs745873673
NM_006015.6(ARID1A):c.98_107del (p.Glu33fs) rs2124740134
NM_006734.4(HIVEP2):c.3281A>C (p.Gln1094Pro) rs1775541285
NM_006734.4(HIVEP2):c.4214C>G (p.Pro1405Arg) rs1775501318
NM_006734.4(HIVEP2):c.4828C>T (p.Arg1610Cys) rs1443329539
NM_006734.4(HIVEP2):c.6277G>A (p.Glu2093Lys) rs1775183672
NM_007118.4(TRIO):c.5003C>T (p.Thr1668Ile)
NM_017635.5(KMT5B):c.2511GGA[1] (p.Glu838del) rs761209606
NM_018489.3(ASH1L):c.1404TGT[1] (p.Val470del) rs754036049
NM_018489.3(ASH1L):c.2014T>G (p.Phe672Val) rs1665903377
NM_018489.3(ASH1L):c.2450G>A (p.Ser817Asn)
NM_018489.3(ASH1L):c.251A>G (p.Asn84Ser) rs1668868551
NM_018489.3(ASH1L):c.3397G>C (p.Val1133Leu) rs1665802694
NM_018489.3(ASH1L):c.3917G>A (p.Arg1306Gln) rs758885213
NM_018489.3(ASH1L):c.6104-3C>G rs1656806167
NM_018489.3(ASH1L):c.7291A>G (p.Asn2431Asp) rs1654048048
NM_018489.3(ASH1L):c.7513G>A (p.Ala2505Thr)
NM_018489.3(ASH1L):c.8447A>G (p.Lys2816Arg) rs1652858406
NM_018489.3(ASH1L):c.8642G>T (p.Arg2881Leu) rs375668916
NM_019842.4(KCNQ5):c.2788A>C (p.Lys930Gln) rs1765753921
NM_024665.7(TBL1XR1):c.1156G>C (p.Asp386His) rs1714448807
NM_024665.7(TBL1XR1):c.1486G>A (p.Asp496Asn) rs1713133035
NM_024665.7(TBL1XR1):c.974G>A (p.Cys325Tyr) rs1553810255
NM_057175.5(NAA15):c.1540-8T>G rs1748137462
NM_057175.5(NAA15):c.233A>G (p.Lys78Arg) rs1747219477
NM_057175.5(NAA15):c.896A>G (p.Asn299Ser)
NM_138459.5(NUS1):c.250C>G (p.Arg84Gly) rs750035599
NM_152641.4(ARID2):c.3694A>G (p.Thr1232Ala) rs1943556259
NM_152641.4(ARID2):c.410G>C (p.Ser137Thr) rs1459853256
NM_152641.4(ARID2):c.4125C>T (p.Asn1375=) rs1943565367
NM_152641.4(ARID2):c.7A>C (p.Asn3His) rs868029449
NM_205768.3(ZBTB18):c.1054G>A (p.Glu352Lys) rs1698424563
NM_205768.3(ZBTB18):c.1347C>G (p.Cys449Trp) rs1698436058

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