ClinVar Miner

List of variants reported as pathogenic for intellectual disability, autosomal dominant 58 by OMIM

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_003011.4(SET):c.130_133del (p.Arg44fs) rs1554776342
NM_003011.4(SET):c.244T>G (p.Trp82Gly) rs1554776500
NM_003011.4(SET):c.313C>T (p.His105Tyr) rs1564360978
NM_003011.4(SET):c.650_651dup (p.Gln218fs) rs1554776933
NM_003011.4(SET):c.660_662del (p.Tyr220_Leu221delinsTer) rs1554776938

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