ClinVar Miner

List of variants reported as likely pathogenic for autosomal dominant non-syndromic intellectual disability by Mendelics

Included ClinVar conditions (49):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_001348323.3(TRIP12):c.4986T>A (p.Asp1662Glu) rs1468657712
NM_001386298.1(CIC):c.4594G>T (p.Gly1532Ter) rs747706524
NM_002397.5(MEF2C):c.104T>C (p.Leu35Pro) rs2153074771
NM_003108.4(SOX11):c.167T>G (p.Phe56Cys) rs2103276337
NM_006015.6(ARID1A):c.3169T>C (p.Ser1057Pro) rs2124087634
NM_006015.6(ARID1A):c.6196A>T (p.Asn2066Tyr) rs1570622663
NM_205768.3(ZBTB18):c.1210G>A (p.Glu404Lys) rs2148557375

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