ClinVar Miner

List of variants studied for autosomal dominant non-syndromic intellectual disability by GenomeConnect, ClinGen

Included ClinVar conditions (47):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_152641.4(ARID2):c.5359C>T (p.Arg1787Cys) rs1457405698 0.00001
NM_001374828.1(ARID1B):c.5407del (p.Leu1803fs) rs1794427847
NM_001374828.1(ARID1B):c.5773C>T (p.Arg1925Ter) rs797045282
NM_002397.5(MEF2C):c.411del (p.Pro138fs) rs1581753788
NM_002397.5(MEF2C):c.413del (p.Pro138fs) rs1581753587
NM_002397.5(MEF2C):c.68A>G (p.Lys23Arg) rs797045053
NM_004859.4(CLTC):c.681+2dup rs1598214612
NM_006015.6(ARID1A):c.1325T>C (p.Met442Thr) rs2124785718
NM_006852.6(TLK2):c.367C>T (p.Arg123Ter) rs758726258

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