ClinVar Miner

List of variants studied for syndromic intellectual disability by Shieh Lab, University of California, San Francisco

Included ClinVar conditions (203):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_000489.6(ATRX):c.3676del (p.Ile1226fs) rs2148567280
NM_004586.3(RPS6KA3):c.451_452del (p.Arg151fs) rs1603426295
NM_005359.6(SMAD4):c.1498A>G (p.Ile500Val) rs281875322
NM_015107.3(PHF8):c.1620del (p.Ala541fs) rs2149839580

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