ClinVar Miner

List of variants in gene SET reported as uncertain significance for autosomal dominant non-syndromic intellectual disability

Included ClinVar conditions (47):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_003011.4(SET):c.238A>T (p.Asn80Tyr)
NM_003011.4(SET):c.379T>C (p.Tyr127His)
NM_003011.4(SET):c.670G>A (p.Asp224Asn) rs2132255761
NM_003011.4(SET):c.73_73+1insAAAAAGAACAGCAAGAAGCGATTGAACACATTGAT rs745491546
NM_003011.4(SET):c.74-3C>G rs775179714
NM_003011.4(SET):c.783_785del (p.Glu261del)
NM_003011.4(SET):c.787G>A (p.Asp263Asn)

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