ClinVar Miner

List of variants studied for syndromic intellectual disability by Developmental and Behavioral Pediatrics, First Affiliated Hospital of Jilin University

Included ClinVar conditions (203):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_001079872.2(CUL4B):c.953_957del (p.Ile318fs) rs1085307760
NM_001172509.2(SATB2):c.1423_1424insCTTAAT (p.Lys475delinsThrTer)
NM_001349338.3(FOXP1):c.1530+1G>T
NM_001356.5(DDX3X):c.874C>T (p.Arg292Ter) rs1555953488
NM_007325.5(GRIA3):c.2098G>A (p.Glu700Lys) rs2045826576
NM_031407.7(HUWE1):c.485G>A (p.Arg162Gln)

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