List of variants reported as pathogenic for Pilarowski-Bjornsson syndrome by OMIM

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Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_001270.4(CHD1):c.1379G>A (p.Arg460Lys)	rs1554078856	0.00001
NM_001270.4(CHD1):c.1853G>A (p.Arg618Gln)	rs1554078349
NM_001270.4(CHD1):c.421A>G (p.Arg141Gly)	rs1064795875
NM_001270.4(CHD1):c.5123G>A (p.Arg1708Gln)	rs1293161341

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