ClinVar Miner

List of variants reported as benign for X-linked syndromic intellectual disability by Illumina Laboratory Services, Illumina

Included ClinVar conditions (104):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_001032382.2(PQBP1):c.180-3C>T rs741932 0.57792
NM_001032382.2(PQBP1):c.-18-69C>T rs150603792 0.00229
NM_001032382.2(PQBP1):c.264G>A (p.Ser88=) rs398124212 0.00018
NM_001032382.2(PQBP1):c.585C>T (p.Ser195=) rs149688357 0.00011
NM_001032382.2(PQBP1):c.267C>T (p.Ala89=) rs139730174 0.00005
NM_001032382.2(PQBP1):c.*3C>T rs781944808 0.00003
NM_001032382.2(PQBP1):c.102C>T (p.Asp34=) rs143156492 0.00001

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