ClinVar Miner

List of variants studied for X-linked syndromic intellectual disability by Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen

Included ClinVar conditions (104):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_001184880.2(PCDH19):c.1627C>T (p.Leu543=) rs1953337 0.19198
NM_002547.3(OPHN1):c.902C>T (p.Thr301Met) rs138108344 0.00403
NM_004595.5(SMS):c.1026A>C (p.Ser342=) rs61732077 0.00399
NM_001184880.2(PCDH19):c.2796C>T (p.Asn932=) rs193148631 0.00228
NM_020717.5(SHROOM4):c.2192A>G (p.Glu731Gly) rs144727288 0.00169
NM_001184880.2(PCDH19):c.3280C>G (p.Leu1094Val) rs184545774 0.00151
NM_001079872.2(CUL4B):c.1857C>T (p.Cys619=) rs148700620 0.00099
NM_001184880.2(PCDH19):c.1294A>G (p.Met432Val) rs200728466 0.00071
NM_003491.4(NAA10):c.346C>T (p.Arg116Trp)
NM_007325.5(GRIA3):c.268+16757dup rs778944548

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