ClinVar Miner

List of variants reported as likely pathogenic for syndromic intellectual disability by Clinical Genomics Laboratory, Stanford Medicine

Included ClinVar conditions (203):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_001356.5(DDX3X):c.1675CTT[1] (p.Leu560del) rs1555954380
NM_001830.4(CLCN4):c.1646T>C (p.Ile549Thr) rs1924631837
NM_003336.4(UBE2A):c.330+1G>A rs2053457643
NM_006766.5(KAT6A):c.4664G>A (p.Ser1555Asn) rs1821677301
NM_007118.4(TRIO):c.4394A>G (p.Asn1465Ser) rs1747669042

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