ClinVar Miner

List of variants in gene ARID2 reported as pathogenic for autosomal dominant non-syndromic intellectual disability

Included ClinVar conditions (49):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 33
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HGVS dbSNP gnomAD frequency
GRCh37/hg19 12q12(chr12:46168172-46304719)x1
NC_000012.11:g.46125066_46230365del
NM_152641.3:c.(705+1_706-1)_(1330+1_1331-1)del
NM_152641.4(ARID2):c.1028T>A (p.Leu343Ter) rs796052242
NM_152641.4(ARID2):c.1121-1G>A rs1943242602
NM_152641.4(ARID2):c.1262_1265dup (p.Tyr423fs) rs2138132429
NM_152641.4(ARID2):c.1331-1G>C rs2138136386
NM_152641.4(ARID2):c.1334_1338del (p.Met445fs)
NM_152641.4(ARID2):c.1580+1G>A rs2138150784
NM_152641.4(ARID2):c.1784_1785del (p.His595fs) rs1943504725
NM_152641.4(ARID2):c.2114del (p.Ser705fs) rs1592118927
NM_152641.4(ARID2):c.2377C>T (p.Gln793Ter) rs2138162523
NM_152641.4(ARID2):c.2401_2402del (p.Met801fs) rs2138162739
NM_152641.4(ARID2):c.2458C>T (p.Gln820Ter) rs1343039962
NM_152641.4(ARID2):c.2521C>T (p.Gln841Ter) rs1555154946
NM_152641.4(ARID2):c.2536del (p.Val846fs) rs796052240
NM_152641.4(ARID2):c.2758C>T (p.Gln920Ter) rs1555155026
NM_152641.4(ARID2):c.2767C>T (p.Gln923Ter)
NM_152641.4(ARID2):c.3301_3302insAGGT (p.Val1101fs) rs2138170893
NM_152641.4(ARID2):c.3411_3412del (p.Gly1139fs) rs1555155252
NM_152641.4(ARID2):c.3814C>T (p.Arg1272Ter) rs2138174785
NM_152641.4(ARID2):c.400dup (p.Gln134fs) rs2138082983
NM_152641.4(ARID2):c.4210dup (p.Gln1404fs) rs2138177931
NM_152641.4(ARID2):c.4255_4256del (p.Pro1419fs) rs2138178306
NM_152641.4(ARID2):c.4318C>T (p.Gln1440Ter) rs772995852
NM_152641.4(ARID2):c.4441del (p.His1481fs) rs796052241
NM_152641.4(ARID2):c.4540_4541delinsGAA (p.Thr1514fs) rs2138180455
NM_152641.4(ARID2):c.4640_4659del (p.Ala1547fs) rs1943579551
NM_152641.4(ARID2):c.4732C>T (p.Gln1578Ter) rs2138181920
NM_152641.4(ARID2):c.5026C>T (p.Gln1676Ter) rs1944306056
NM_152641.4(ARID2):c.5346T>G (p.Tyr1782Ter) rs1592145571
NM_152641.4(ARID2):c.675G>A (p.Trp225Ter)
NM_152641.4(ARID2):c.869_881del (p.Ala290fs)

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