ClinVar Miner

List of variants reported as uncertain significance 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: 15
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HGVS dbSNP gnomAD frequency
NM_001032382.2(PQBP1):c.*8G>A rs376272913 0.00003
NM_001032382.2(PQBP1):c.-18-196A>G rs1006576758 0.00002
NM_001032382.2(PQBP1):c.642-9C>A rs782015028 0.00001
NM_015107.3(PHF8):c.1731-2A>G rs1437750762 0.00001
NM_031407.7(HUWE1):c.5662G>A (p.Val1888Met) rs782222601 0.00001
NM_001079872.2(CUL4B):c.197C>A (p.Ser66Tyr)
NM_001079872.2(CUL4B):c.2356G>A (p.Asp786Asn)
NM_001830.4(CLCN4):c.1078C>T (p.Arg360Cys) rs1602157389
NM_004187.5(KDM5C):c.1354G>A (p.Gly452Ser) rs2073559814
NM_004606.5(TAF1):c.5036G>A (p.Ser1679Asn)
NM_004606.5(TAF1):c.892G>A (p.Ala298Thr) rs1602463196
NM_005120.3(MED12):c.397-12A>G rs192515277
NM_031407.7(HUWE1):c.10721C>G (p.Ser3574Cys)
NM_031407.7(HUWE1):c.401T>G (p.Val134Gly)
NM_031407.7(HUWE1):c.6211A>G (p.Ile2071Val)

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