ClinVar Miner

List of variants studied for X-linked syndromic intellectual disability by Institute of Human Genetics, University of Goettingen

Included ClinVar conditions (104):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_031407.7(HUWE1):c.2570C>T (p.Pro857Leu) rs782526786 0.00004
NM_000489.6(ATRX):c.6504+5_6504+14del rs2064891953
NM_001008537.3(NEXMIF):c.907C>G (p.Leu303Val) rs2080115822
NM_001032382.2(PQBP1):c.313C>T (p.Arg105Trp) rs1222724041
NM_001079872.2(CUL4B):c.2650G>A (p.Asp884Asn) rs1922994124
NM_001367721.1(CASK):c.2155+1G>C rs1555977199
NM_001830.4(CLCN4):c.1439G>T (p.Gly480Val) rs2147182640
NM_003491.4(NAA10):c.30C>G (p.Asp10Glu) rs2148536720
NM_003491.4(NAA10):c.347G>A (p.Arg116Gln) rs2065169655
NM_004187.5(KDM5C):c.1583+5G>T rs2073531540
NM_006013.5(RPL10):c.218A>C (p.Asn73Thr) rs2148138707
NM_080632.3(UPF3B):c.711AGA[2] (p.Glu240del) rs2056156815

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