List of variants reported as pathogenic by Department of Medical Genetics and Molecular Diagnostic Laboratory, Shanghai Children's Medical Center

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Total variants: 11

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HGVS	dbSNP	gnomAD frequency
NM_000507.4(FBP1):c.960_961insG (p.Ser321fs)	rs757653154	0.00022
NM_000507.4(FBP1):c.355G>A (p.Asp119Asn)	rs758609113	0.00002
NM_000507.4(FBP1):c.490G>A (p.Gly164Ser)	rs121918188	0.00001
NM_000507.4(FBP1):c.704del (p.Pro235fs)	rs774362519
NM_000507.4(FBP1):c.720_729del (p.Tyr241fs)	rs1060499726
NM_000507.4(FBP1):c.825+1G>A	rs111437558
NM_001085487.3(MYSM1):c.1467C>G (p.Tyr489Ter)	rs1361904700
NM_001085487.3(MYSM1):c.399G>A (p.Leu133=)	rs1644867065
NM_015426.5(POC1A):c.981+1G>A	rs780164701
NM_020751.3(COG6):c.1A>G (p.Met1Val)	rs752232501
NM_020751.3(COG6):c.388C>T (p.Gln130Ter)	rs1259563970

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