ClinVar Miner

List of variants studied for syndromic intellectual disability by Molecular Genetics Department, Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology

Included ClinVar conditions (203):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 14
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HGVS dbSNP gnomAD frequency
NM_001145358.2(SIN3A):c.2844_2847del (p.Lys948fs) rs1555443581
NM_001347721.2(DYRK1A):c.1072del
NM_001356.5(DDX3X):c.965C>T (p.Ala322Val)
NM_001367721.1(CASK):c.173-1G>A
NM_004380.3(CREBBP):c.3270dup (p.Arg1091fs)
NM_004380.3(CREBBP):c.4208A>G (p.Asp1403Gly)
NM_013275.6(ANKRD11):c.2161dup (p.Ile721fs)
NM_013275.6(ANKRD11):c.2499_2502del (p.Ser834fs)
NM_013275.6(ANKRD11):c.7267A>T (p.Lys2423Ter)
NM_014795.4(ZEB2):c.564del (p.Pro189fs)
NM_015100.4(POGZ):c.2771dup (p.Gln925fs)
NM_015335.5(MED13L):c.2606C>T (p.Pro869Leu)
NM_016032.4(ZDHHC9):c.167+1G>A
NM_030665.4(RAI1):c.367dup (p.Ala123fs)

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