ClinVar Miner

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

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Total variants: 9
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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.1614+247G>A rs555564479 0.00057
NM_001127178.3(PIGG):c.2770G>A (p.Ala924Thr) rs771098011 0.00002
NM_001127178.3(PIGG):c.641A>G (p.His214Arg) rs782157451 0.00002
NM_001127178.3(PIGG):c.2499G>C (p.Lys833Asn) rs1056486559 0.00001
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.228G>T (p.Leu76Phe) rs782727523
NM_001127178.3(PIGG):c.901+1del rs782318668

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