ClinVar Miner

List of variants reported by Institute of Pediatric Research, Xinhua Hospital affiliated to Shanghai Jiao Tong University School of Medicine

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Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_012134.3(LMOD1):c.1106C>T (p.Thr369Met) rs1196609413 0.00001
NC_000007.13:g.69955482_70217682del
NC_000007.13:g.70236723_72383418del
NM_001015877.2(PHF6):c.673C>T (p.Arg225Ter) rs1556018932
NM_001982.4(ERBB3):c.1914-7C>G
NM_001982.4(ERBB3):c.2942_2945del
NM_012134.3(LMOD1):c.1262G>A (p.Arg421His) rs1487322841
NM_173551.5(ANKS6):c.1373G>A (p.Trp458Ter)
NM_173551.5(ANKS6):c.2394+1G>A
Single allele

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