List of variants reported as pathogenic for Intellectual disability, autosomal recessive 53 by Victorian Clinical Genetics Services, Murdoch Childrens Research Institute

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Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_001127178.3(PIGG):c.1515G>A (p.Trp505Ter)	rs150259543	0.00072
NM_001127178.3(PIGG):c.1193C>G (p.Ser398Ter)	rs2474872027
NM_001127178.3(PIGG):c.1956G>A (p.Trp652Ter)	rs1224423439
NM_001127178.3(PIGG):c.901+1del	rs782318668

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