ClinVar Miner

List of variants reported by Department of Medical Genetics, International Peace Maternity and Child Health Hospital, Shanghai Jiao Tong University School of Medicine

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Total variants: 14
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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_025077.4(TOE1):c.237-2A>G rs773776995 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_001330288.2(SMARCC2):c.1496+1G>T
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
NM_025077.4(TOE1):c.551G>T (p.Arg184Leu) rs267598623

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