ClinVar Miner

List of variants reported as uncertain significance for autosomal dominant non-syndromic intellectual disability by New York Genome Center

Included ClinVar conditions (47):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 139
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HGVS dbSNP gnomAD frequency
NM_007118.4(TRIO):c.9277C>T (p.Leu3093Phe) rs145985294 0.00039
NM_003079.5(SMARCE1):c.955G>A (p.Val319Ile) rs140414666 0.00015
NM_001386298.1(CIC):c.6292G>A (p.Val2098Met) rs202242046 0.00011
NM_003073.5(SMARCB1):c.628+1487A>G rs185591492 0.00009
NM_205768.3(ZBTB18):c.896A>G (p.Tyr299Cys) rs528142333 0.00009
NM_001386298.1(CIC):c.2182C>T (p.Pro728Ser) rs970794792 0.00007
NM_019842.4(KCNQ5):c.2726G>A (p.Arg909Gln) rs184951305 0.00007
NM_005121.3(MED13):c.2291G>A (p.Arg764His) rs777627564 0.00006
NM_006015.6(ARID1A):c.5731A>G (p.Met1911Val) rs755338885 0.00006
NM_130797.4(DPP6):c.1565A>G (p.Asn522Ser) rs774538369 0.00006
NM_007118.4(TRIO):c.8120G>A (p.Arg2707Gln) rs768858988 0.00005
NM_018489.3(ASH1L):c.4871G>A (p.Arg1624Gln) rs931459501 0.00005
NM_001220.5(CAMK2B):c.1825G>A (p.Val609Ile) rs754627779 0.00004
NM_001386298.1(CIC):c.2494G>A (p.Gly832Ser) rs1290889234 0.00004
NM_005862.3(STAG1):c.1189G>C (p.Val397Leu) rs201846240 0.00004
NM_005862.3(STAG1):c.3104T>C (p.Met1035Thr) rs199902670 0.00004
NM_006015.6(ARID1A):c.4564G>A (p.Ala1522Thr) rs199776442 0.00003
NM_007118.4(TRIO):c.8027A>G (p.Asn2676Ser) rs150431198 0.00003
NM_001386298.1(CIC):c.425G>A (p.Arg142Gln) rs1201027582 0.00002
NM_003108.4(SOX11):c.538G>A (p.Ala180Thr) rs1297634063 0.00002
NM_003108.4(SOX11):c.701A>G (p.Glu234Gly) rs751660162 0.00002
NM_005121.3(MED13):c.749C>T (p.Ser250Phe) rs761981290 0.00002
NM_005862.3(STAG1):c.395-8T>C rs746224826 0.00002
NM_006015.6(ARID1A):c.122C>T (p.Ala41Val) rs1295137307 0.00002
NM_006015.6(ARID1A):c.4388G>A (p.Arg1463His) rs752827461 0.00002
NM_006734.4(HIVEP2):c.230A>C (p.Gln77Pro) rs1775643278 0.00002
NM_018489.3(ASH1L):c.3264T>G (p.Ile1088Met) rs367721790 0.00002
NM_019842.4(KCNQ5):c.2366A>T (p.Glu789Val) rs771383058 0.00002
NM_001220.5(CAMK2B):c.1399G>A (p.Glu467Lys) rs374476287 0.00001
NM_001321075.3(DLG4):c.740G>A (p.Ser247Asn) rs200396689 0.00001
NM_001321075.3(DLG4):c.96+6C>A rs769063541 0.00001
NM_001348323.3(TRIP12):c.2071G>T (p.Val691Phe) rs1305168076 0.00001
NM_001348323.3(TRIP12):c.5938A>G (p.Ser1980Gly) rs749300014 0.00001
NM_001348323.3(TRIP12):c.748G>A (p.Ala250Thr) rs539119124 0.00001
NM_001348323.3(TRIP12):c.78A>C (p.Gln26His) rs1046355070 0.00001
NM_001374828.1(ARID1B):c.5602G>A (p.Glu1868Lys) rs528801298 0.00001
NM_001386298.1(CIC):c.1324T>G (p.Ser442Ala) rs2036846589 0.00001
NM_001386298.1(CIC):c.1829G>A (p.Arg610His) rs2036863074 0.00001
NM_001386298.1(CIC):c.5030C>T (p.Pro1677Leu) rs774119037 0.00001
NM_001386298.1(CIC):c.5282C>T (p.Ala1761Val) rs751712390 0.00001
NM_001386298.1(CIC):c.5708A>G (p.Gln1903Arg) rs906467634 0.00001
NM_001386298.1(CIC):c.5884G>A (p.Val1962Met) rs773634795 0.00001
NM_001386298.1(CIC):c.844C>T (p.Arg282Trp) rs1191474182 0.00001
NM_001386298.1(CIC):c.968G>A (p.Arg323His) rs886934809 0.00001
NM_003072.5(SMARCA4):c.4876G>A (p.Val1626Met) rs757412819 0.00001
NM_003072.5(SMARCA4):c.731C>T (p.Pro244Leu) rs587778683 0.00001
NM_003073.5(SMARCB1):c.1118+6C>G rs200675113 0.00001
NM_003108.4(SOX11):c.727C>G (p.Pro243Ala) rs771639613 0.00001
NM_004859.4(CLTC):c.2503G>A (p.Val835Ile) rs373696281 0.00001
NM_004859.4(CLTC):c.4904-4G>A rs755404780 0.00001
NM_005121.3(MED13):c.3496C>G (p.Leu1166Val) rs1476770233 0.00001
NM_005121.3(MED13):c.4163T>G (p.Phe1388Cys) rs2080074728 0.00001
NM_006734.4(HIVEP2):c.2963C>T (p.Thr988Ile) rs1456774761 0.00001
NM_006734.4(HIVEP2):c.4024G>A (p.Val1342Ile) rs760320989 0.00001
NM_006734.4(HIVEP2):c.5150A>T (p.Lys1717Met) rs1775466922 0.00001
NM_006734.4(HIVEP2):c.6245T>C (p.Leu2082Pro) rs753359071 0.00001
NM_006852.6(TLK2):c.1369-8C>T rs1413660720 0.00001
NM_007118.4(TRIO):c.53C>G (p.Ala18Gly) rs1429556466 0.00001
NM_007118.4(TRIO):c.7250G>A (p.Ser2417Asn) rs927883781 0.00001
NM_007118.4(TRIO):c.8686C>A (p.Leu2896Met) rs1422150009 0.00001
NM_018489.3(ASH1L):c.1570C>T (p.Pro524Ser) rs143322824 0.00001
NM_018489.3(ASH1L):c.3170C>G (p.Thr1057Ser) rs1665818268 0.00001
NM_024665.7(TBL1XR1):c.441T>G (p.Asp147Glu) rs1197826368 0.00001
NM_024665.7(TBL1XR1):c.444G>A (p.Met148Ile) rs1339329131 0.00001
NM_057175.5(NAA15):c.2345G>A (p.Arg782Gln) rs776135982 0.00001
NM_130797.4(DPP6):c.1391C>T (p.Thr464Met) rs1054264418 0.00001
NM_138459.5(NUS1):c.16G>C (p.Glu6Gln) rs1374617888 0.00001
NC_000022.11:g.23774226_23859697dup
NM_001220.5(CAMK2B):c.197G>A (p.Arg66His) rs745930853
NM_001321075.3(DLG4):c.1711C>T (p.Arg571Trp) rs2069587140
NM_001348323.3(TRIP12):c.137C>T (p.Pro46Leu) rs2060290263
NM_001348323.3(TRIP12):c.3206+408T>G rs1461598857
NM_001364497.2(DPP6):c.39T>A (p.Cys13Ter) rs2128935579
NM_001374828.1(ARID1B):c.1051TCCGCC[1] (p.351SA[1]) rs1562376911
NM_001374828.1(ARID1B):c.1132T>G (p.Cys378Gly) rs2114986662
NM_001374828.1(ARID1B):c.1942C>T (p.Arg648Trp) rs143370913
NM_001374828.1(ARID1B):c.2069C>T (p.Pro690Leu) rs779239519
NM_001374828.1(ARID1B):c.2899G>A (p.Gly967Arg) rs1554226059
NM_001374828.1(ARID1B):c.3179T>A (p.Met1060Lys) rs2128290781
NM_001374828.1(ARID1B):c.4573G>A (p.Glu1525Lys) rs1554235555
NM_001374828.1(ARID1B):c.7004G>T (p.Arg2335Leu) rs146468586
NM_001379029.1(CERT1):c.-121del rs893362976
NM_001386298.1(CIC):c.1736C>G (p.Ser579Ter) rs2147020089
NM_001386298.1(CIC):c.1785C>A (p.Asp595Glu) rs975540618
NM_001386298.1(CIC):c.4277C>G (p.Pro1426Arg) rs1227518171
NM_001386298.1(CIC):c.7195A>G (p.Thr2399Ala) rs2147353869
NM_002397.5(MEF2C):c.-142-25787T>G rs2153377579
NM_003011.4(SET):c.670G>A (p.Asp224Asn) rs2132255761
NM_003072.5(SMARCA4):c.3383-36C>T rs2146595699
NM_003072.5(SMARCA4):c.3557C>T (p.Ala1186Val) rs1600388982
NM_003072.5(SMARCA4):c.4732G>C (p.Glu1578Gln) rs1555795999
NM_003073.5(SMARCB1):c.1118+4C>G rs374197835
NM_003079.5(SMARCE1):c.370-10T>C rs763801620
NM_003108.4(SOX11):c.1153G>A (p.Ala385Thr) rs2103277224
NM_004859.4(CLTC):c.2282A>G (p.Asn761Ser) rs771059610
NM_005121.3(MED13):c.4468C>T (p.Pro1490Ser) rs756580776
NM_005862.3(STAG1):c.1056A>T (p.Lys352Asn) rs2107814357
NM_005862.3(STAG1):c.2196+4167T>G rs2107715024
NM_005862.3(STAG1):c.298-8776C>T rs1190662692
NM_005862.3(STAG1):c.676+5379A>G rs2107894849
NM_006015.6(ARID1A):c.1126C>T (p.Arg376Trp) rs1018092020
NM_006015.6(ARID1A):c.1517C>G (p.Ser506Cys) rs2124788689
NM_006015.6(ARID1A):c.2194C>A (p.Gln732Lys) rs1292150071
NM_006015.6(ARID1A):c.242G>A (p.Gly81Glu) rs1285265984
NM_006015.6(ARID1A):c.269G>C (p.Ser90Thr) rs2124741075
NM_006015.6(ARID1A):c.2852G>A (p.Gly951Asp) rs2081039231
NM_006015.6(ARID1A):c.5702G>A (p.Gly1901Glu) rs2124141958
NM_006015.6(ARID1A):c.764C>T (p.Ser255Phe) rs1240590332
NM_006734.4(HIVEP2):c.-640-49334A>G rs2128419086
NM_006734.4(HIVEP2):c.1643C>T (p.Thr548Ile) rs760177241
NM_006734.4(HIVEP2):c.446G>A (p.Gly149Asp) rs1403489512
NM_006734.4(HIVEP2):c.4802A>T (p.His1601Leu) rs1775480229
NM_006734.4(HIVEP2):c.5456G>A (p.Arg1819His) rs1346207059
NM_006734.4(HIVEP2):c.956T>G (p.Leu319Trp) rs373903307
NM_007118.4(TRIO):c.2046+6G>T rs1741451308
NM_007118.4(TRIO):c.4978C>A (p.Leu1660Met) rs2152389359
NM_007118.4(TRIO):c.8019+6T>G rs2126677662
NM_015981.4(CAMK2A):c.270C>T (p.Asp90=) rs1464070393
NM_015981.4(CAMK2A):c.712G>C (p.Asp238His) rs1325334771
NM_017635.5(KMT5B):c.1174+1575C>G
NM_017635.5(KMT5B):c.1190C>A (p.Ser397Tyr) rs2153041082
NM_017635.5(KMT5B):c.2074G>A (p.Ala692Thr) rs2153040244
NM_017635.5(KMT5B):c.2413C>T (p.Pro805Ser) rs2153039971
NM_017635.5(KMT5B):c.268G>A (p.Asp90Asn) rs2153068007
NM_018489.3(ASH1L):c.1037T>C (p.Ile346Thr) rs775556643
NM_018489.3(ASH1L):c.161G>C (p.Arg54Pro) rs1416735817
NM_018489.3(ASH1L):c.6911C>T (p.Ser2304Phe) rs774024798
NM_018489.3(ASH1L):c.961T>A (p.Leu321Ile) rs1665987514
NM_019842.4(KCNQ5):c.2444T>G (p.Leu815Arg) rs1204507146
NM_019842.4(KCNQ5):c.292A>G (p.Ser98Gly) rs2154471235
NM_019842.4(KCNQ5):c.68CGG[7] (p.Ala26_Ala27dup) rs568022266
NM_024665.7(TBL1XR1):c.40A>G (p.Arg14Gly) rs1718965342
NM_024665.7(TBL1XR1):c.756G>T (p.Trp252Cys) rs2108480249
NM_057175.5(NAA15):c.1493T>G (p.Met498Arg) rs2110957042
NM_057175.5(NAA15):c.55-2863G>C rs2110888403
NM_057175.5(NAA15):c.997T>C (p.Tyr333His) rs1747780138
NM_130797.4(DPP6):c.1888G>A (p.Gly630Ser) rs2150654585
NM_152641.4(ARID2):c.186G>C (p.Lys62Asn) rs2137960002
NM_152641.4(ARID2):c.4568A>G (p.Asp1523Gly) rs1943577999

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