ClinVar Miner

List of variants reported as pathogenic for Pilarowski-Bjornsson syndrome

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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NM_001270.2(CHD1):c.1379G>A (p.Arg460Lys) rs1554078856
NM_001270.2(CHD1):c.1853G>A (p.Arg618Gln) rs1554078349
NM_001270.2(CHD1):c.421A>G (p.Arg141Gly) rs1064795875
NM_001270.2(CHD1):c.5123G>A (p.Arg1708Gln) rs1293161341

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