ClinVar Miner

List of variants studied for autosomal dominant non-syndromic intellectual disability by HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology

Included ClinVar conditions (37):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 14
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HGVS dbSNP gnomAD frequency
NM_004859.4(CLTC):c.1195C>T (p.Arg399Cys) rs954500638 0.00001
NM_001379029.1(CERT1):c.905C>A (p.Ser302Tyr) rs1417704749
NM_002397.5(MEF2C):c.71G>A (p.Arg24Lys) rs869312698
NM_002397.5(MEF2C):c.88AAG[1] (p.Lys31del)
NM_006852.6(TLK2):c.968+1G>A rs1598620094
NM_018489.3(ASH1L):c.1907C>G (p.Ser636Ter) rs1198775988
NM_018489.3(ASH1L):c.7421+6T>C
NM_024665.7(TBL1XR1):c.809T>G (p.Phe270Cys)
NM_057175.4(NAA15):c.228_232del (p.Asp76Glufs) rs1380822792
NM_057175.5(NAA15):c.1418_1421dup (p.Ala475fs)
NM_057175.5(NAA15):c.2322C>G (p.Tyr774Ter) rs886041097
NM_152641.4(ARID2):c.109dup (p.Ile37fs) rs2137959601
NM_205768.3(ZBTB18):c.1493A>C (p.His498Pro) rs1553270640
NM_205768.3(ZBTB18):c.160T>C (p.Cys54Arg) rs869312689

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