ClinVar Miner

List of variants studied for autosomal dominant non-syndromic intellectual disability by Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals

Included ClinVar conditions (49):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 13
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HGVS dbSNP gnomAD frequency
NM_001374828.1(ARID1B):c.2051dup (p.Tyr684Ter) rs1554265275
NM_001374828.1(ARID1B):c.2170C>T (p.Gln724Ter) rs1554270809
NM_001374828.1(ARID1B):c.2468dup (p.Ile824fs) rs1554294698
NM_001374828.1(ARID1B):c.3714+2T>G rs1404726383
NM_001374828.1(ARID1B):c.5939_5942del (p.Lys1980fs) rs886041706
NM_001374828.1(ARID1B):c.6895C>T (p.Gln2299Ter) rs758120346
NM_002074.5(GNB1):c.301A>G (p.Met101Val) rs869312825
NM_003073.5(SMARCB1):c.602G>A (p.Arg201Gln) rs1555877287
NM_005862.3(STAG1):c.3261del (p.Lys1087fs) rs1553789166
NM_017635.5(KMT5B):c.255del (p.Ser86fs) rs1555034768
NM_018489.3(ASH1L):c.3664_3667del (p.Lys1222fs) rs1558148010
NM_018489.3(ASH1L):c.6803_6804delinsTTCTCA (p.Cys2268fs) rs1553245038
NM_024665.7(TBL1XR1):c.874dup (p.Ile292fs) rs1553813646

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