ClinVar Miner

List of variants reported as likely benign for autosomal dominant non-syndromic intellectual disability by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (47):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 53
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_003072.5(SMARCA4):c.1419+8C>T rs115492175 0.01292
NM_004859.4(CLTC):c.2797-9C>T rs148657971 0.00940
NM_007118.4(TRIO):c.7457_7468del (p.Trp2486_Pro2490delinsSer) rs140308852 0.00802
NM_006734.4(HIVEP2):c.5397C>T (p.Tyr1799=) rs61729356 0.00746
NM_001374828.1(ARID1B):c.5576A>C (p.Glu1859Ala) rs149518409 0.00727
NM_018489.3(ASH1L):c.2330G>A (p.Arg777His) rs74353643 0.00654
NM_024665.7(TBL1XR1):c.669A>G (p.Pro223=) rs61750378 0.00631
NM_003072.5(SMARCA4):c.2002-19T>C rs111899994 0.00578
NM_152641.4(ARID2):c.339A>C (p.Val113=) rs73292513 0.00577
NM_005862.3(STAG1):c.1402C>T (p.Leu468=) rs34807246 0.00562
NM_003072.5(SMARCA4):c.1419+7T>C rs112977340 0.00546
NM_006734.4(HIVEP2):c.4140C>T (p.Thr1380=) rs35406346 0.00511
NM_001220.5(CAMK2B):c.51C>T (p.Tyr17=) rs150540739 0.00471
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_001220.5(CAMK2B):c.651G>A (p.Glu217=) rs56291919 0.00433
NM_003072.5(SMARCA4):c.3547-11T>C rs190104006 0.00408
NM_003072.5(SMARCA4):c.1119-12C>T rs113870824 0.00387
NM_003072.5(SMARCA4):c.2001+8T>G rs112549813 0.00384
NM_006734.4(HIVEP2):c.5583A>G (p.Ser1861=) rs200660585 0.00371
NM_006734.4(HIVEP2):c.4293C>T (p.Ser1431=) rs34191067 0.00353
NM_001386298.1(CIC):c.3933A>G (p.Ala1311=) rs112950169 0.00333
NM_001374828.1(ARID1B):c.3768C>T (p.Thr1256=) rs142391292 0.00312
NM_019842.4(KCNQ5):c.972A>G (p.Gly324=) rs138701359 0.00220
NM_003072.5(SMARCA4):c.258C>T (p.Asp86=) rs115992445 0.00153
NM_003072.5(SMARCA4):c.1419+9C>T rs374635008 0.00128
NM_152641.4(ARID2):c.1808C>T (p.Ala603Val) rs144928351 0.00100
NM_006734.4(HIVEP2):c.2367A>G (p.Leu789=) rs201358604 0.00077
NM_001220.5(CAMK2B):c.1059+15G>A rs200508041 0.00076
NM_001374828.1(ARID1B):c.535C>A (p.His179Asn) rs374989034 0.00055
NM_001220.5(CAMK2B):c.1260G>A (p.Arg420=) rs550135870 0.00052
NM_007118.4(TRIO):c.7401T>C (p.Ser2467=) rs377647192 0.00046
NM_006734.4(HIVEP2):c.6884C>T (p.Pro2295Leu) rs201249840 0.00041
NM_007118.4(TRIO):c.9178G>A (p.Val3060Ile) rs149252703 0.00038
NM_003072.5(SMARCA4):c.1245+18C>T rs376247014 0.00027
NM_001386298.1(CIC):c.6611C>T (p.Pro2204Leu) rs374363627 0.00025
NM_006015.6(ARID1A):c.1803+9T>C rs371726505 0.00025
NM_152641.4(ARID2):c.180C>T (p.Phe60=) rs200775326 0.00016
NM_001374828.1(ARID1B):c.4674G>A (p.Pro1558=) rs566865279 0.00006
NM_003072.5(SMARCA4):c.3552G>A (p.Leu1184=) rs368250779 0.00004
NM_003072.5(SMARCA4):c.2562C>T (p.Asn854=) rs369724341 0.00003
NM_001374828.1(ARID1B):c.3588C>T (p.Val1196=) rs371828409 0.00001
NM_003072.5(SMARCA4):c.1813-15A>G rs751661108 0.00001
NM_003072.5(SMARCA4):c.2505+14A>G rs779882147 0.00001
NM_003072.5(SMARCA4):c.3396G>A (p.Ala1132=) rs1060504446 0.00001
NM_001374828.1(ARID1B):c.1170CGG[5] (p.Gly400_Gly402del) rs587779747
NM_001374828.1(ARID1B):c.591GCA[6] (p.Gln214del) rs587779743
NM_001374828.1(ARID1B):c.591GCA[9] (p.Gln213_Gln214dup) rs587779743
NM_003072.5(SMARCA4):c.120C>T (p.His40=) rs375884151
NM_003072.5(SMARCA4):c.4170+17C>T rs145829956
NM_006015.6(ARID1A):c.3978GCA[10] (p.Gln1333_Gln1334dup) rs374564889
NM_007118.4(TRIO):c.3332-8T>C rs369818812
NM_017635.5(KMT5B):c.309-5_309-2del rs779089106

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.