ClinVar Miner

List of variants studied for autosomal recessive non-syndromic intellectual disability by Centre for Mendelian Genomics, University Medical Centre Ljubljana

Included ClinVar conditions (71):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_003754.3(EIF3F):c.694T>G (p.Phe232Val) rs141976414 0.00080
NM_016219.5(MAN1B1):c.587G>A (p.Arg196His) rs200410163 0.00015
NM_006765.4(TUSC3):c.992C>A (p.Ser331Ter) rs200667343 0.00007
NM_017721.5(CC2D1A):c.2159G>A (p.Arg720His) rs1194702277 0.00001
NM_014806.5(RUSC2):c.2773C>T (p.Arg925Ter) rs765514069
NM_017721.5(CC2D1A):c.1072C>T (p.Arg358Trp) rs774357851
NM_020374.4(C12orf4):c.1200_1201insGT (p.Lys401fs) rs1943353362

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