ClinVar Miner

List of variants reported as pathogenic for Developmental disorder by Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine

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Total variants: 29
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HGVS dbSNP gnomAD frequency
NM_000834.5(GRIN2B):c.1108G>T (p.Glu370Ter)
NM_000834.5(GRIN2B):c.1755T>G (p.Tyr585Ter)
NM_000834.5(GRIN2B):c.2065G>A (p.Gly689Ser)
NM_001029896.2(WDR45):c.235G>T (p.Val79Leu)
NM_001032221.6(STXBP1):c.1651C>T (p.Arg551Cys) rs796053373
NM_001040142.2(SCN2A):c.823C>T (p.Arg275Ter) rs181327458
NM_001080517.3(SETD5):c.2734C>T (p.Arg912Ter) rs2045177486
NM_001080517.3(SETD5):c.3172dup (p.Gln1058fs) rs1197870764
NM_001083962.2(TCF4):c.1717A>G (p.Asn573Asp)
NM_001172509.2(SATB2):c.1166G>C (p.Arg389Pro)
NM_001349338.3(FOXP1):c.1240dup (p.Leu414fs) rs797044652
NM_001353921.2(ARHGEF9):c.1269G>A (p.Trp423Ter)
NM_001367721.1(CASK):c.2317+5G>A rs2147095645
NM_001367721.1(CASK):c.497C>A (p.Ala166Asp)
NM_001367721.1(CASK):c.794_796delinsAG (p.Ile265fs)
NM_001374353.1(GLI2):c.1905+1G>T rs1558937172
NM_001904.4(CTNNB1):c.1420C>T (p.Arg474Ter) rs1553631860
NM_004187.5(KDM5C):c.2482C>T (p.Arg828Ter) rs1135401800
NM_004539.4(NARS1):c.1600C>T (p.Arg534Ter) rs2051507892
NM_006236.3(POU3F3):c.209_213delinsC (p.Val70fs)
NM_006772.3(SYNGAP1):c.2793_2794del (p.Phe932fs) rs1554122252
NM_013275.6(ANKRD11):c.2022dup (p.Glu675fs)
NM_013275.6(ANKRD11):c.3019C>T (p.Arg1007Ter) rs752918694
NM_014268.4(MAPRE2):c.427C>T (p.Arg143Cys) rs864309720
NM_015559.3(SETBP1):c.1588C>T (p.Arg530Ter)
NM_015570.4(AUTS2):c.796_818del (p.Pro266fs)
NM_019066.5(MAGEL2):c.2036del (p.Thr679fs)
NM_030665.4(RAI1):c.4810C>T (p.Arg1604Ter)
NM_177559.3(CSNK2A1):c.934C>T (p.Arg312Trp) rs2018124491

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