ClinVar Miner

List of variants reported as likely pathogenic 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: 33
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HGVS dbSNP gnomAD frequency
GRCh37/hg19 3q22.1-22.3(chr3:132642704-136360844)x1
GRCh38/hg38 3q22.2-22.3(chr3:135343568-136642002)x1
GRCh38/hg38 3q22.2-22.3(chr3:135423479-136961152)x1
NM_001348323.3(TRIP12):c.2625_2629del (p.Asn876fs)
NM_001374828.1(ARID1B):c.2581G>A (p.Gly861Ser) rs1057518045
NM_001374828.1(ARID1B):c.2582-2A>C rs1057524160
NM_001374828.1(ARID1B):c.266G>A (p.Gly89Asp) rs1057518648
NM_001374828.1(ARID1B):c.2912C>A (p.Ser971Ter)
NM_001374828.1(ARID1B):c.6286del (p.Val2095_Leu2096insTer)
NM_002397.5(MEF2C):c.137T>A (p.Ile46Asn) rs1799660837
NM_002397.5(MEF2C):c.68A>G (p.Lys23Arg) rs797045053
NM_003072.5(SMARCA4):c.1351C>T (p.Arg451Cys) rs2086534839
NM_003072.5(SMARCA4):c.2704G>A (p.Val902Met) rs1600278307
NM_003073.5(SMARCB1):c.812G>A (p.Gly271Glu) rs2030318562
NM_003079.5(SMARCE1):c.276G>C (p.Lys92Asn) rs1555605795
NM_003108.4(SOX11):c.700G>T (p.Glu234Ter) rs780122780
NM_005121.3(MED13):c.413_414dup (p.Ile139fs)
NM_005862.3(STAG1):c.1118G>A (p.Arg373Gln) rs1376334317
NM_005862.3(STAG1):c.1129C>T (p.Arg377Cys) rs1559824939
NM_005862.3(STAG1):c.2009_2012del (p.Asn670fs) rs1559791842
NM_005862.3(STAG1):c.418C>T (p.Arg140Ter)
NM_006015.6(ARID1A):c.3067T>G (p.Trp1023Gly)
NM_006015.6(ARID1A):c.3148G>T (p.Asp1050Tyr) rs1570609440
NM_006015.6(ARID1A):c.5963T>C (p.Ile1988Thr) rs2081174839
NM_006015.6(ARID1A):c.6200T>C (p.Ile2067Thr)
NM_018489.3(ASH1L):c.5575C>T (p.Gln1859Ter)
NM_019842.4(KCNQ5):c.532C>T (p.Arg178Ter) rs1554201137
NM_152641.4(ARID2):c.1284_1288del (p.Met428fs) rs2138132620
NM_152641.4(ARID2):c.2828T>G (p.Ile943Ser) rs2138166428
NM_152641.4(ARID2):c.542_552del (p.Thr181fs)
NM_152641.4(ARID2):c.820C>T (p.Arg274Ter) rs1943228378
NM_205768.3(ZBTB18):c.1378C>T (p.His460Tyr) rs1698437148
NM_205768.3(ZBTB18):c.1465G>T (p.Asp489Tyr) rs1572532005

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