ClinVar Miner

List of variants reported as uncertain significance for Congenital myasthenic syndrome 18

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Total variants: 57
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HGVS dbSNP gnomAD frequency
NM_130811.4(SNAP25):c.23G>A (p.Arg8His) rs374115269 0.00007
NM_130811.4(SNAP25):c.527G>A (p.Arg176His) rs751046094 0.00004
NM_130811.4(SNAP25):c.356G>A (p.Arg119His) rs774645750 0.00002
NM_130811.4(SNAP25):c.408-3C>T rs1385382718 0.00002
NM_130811.4(SNAP25):c.256G>A (p.Gly86Arg) rs763054916 0.00001
NM_130811.4(SNAP25):c.358G>A (p.Val120Ile) rs761830881 0.00001
NM_130811.4(SNAP25):c.404G>A (p.Arg135His) rs1315869651 0.00001
NM_130811.4(SNAP25):c.463G>A (p.Gly155Ser) rs2064181965 0.00001
NM_130811.4(SNAP25):c.7G>A (p.Glu3Lys) rs535525064 0.00001
NM_130811.4(SNAP25):c.92G>A (p.Arg31His) rs1341058084 0.00001
NC_000020.10:g.(?_10256140)_(10286845_?)del
NM_130811.4(SNAP25):c.103C>A (p.Leu35Met)
NM_130811.4(SNAP25):c.114+3A>C
NM_130811.4(SNAP25):c.114G>C (p.Glu38Asp) rs763997141
NM_130811.4(SNAP25):c.11A>G (p.Asp4Gly) rs11547861
NM_130811.4(SNAP25):c.12C>G (p.Asp4Glu)
NM_130811.4(SNAP25):c.136A>C (p.Thr46Pro) rs2063842678
NM_130811.4(SNAP25):c.144_146dup (p.Val48_Met49insIle) rs2063842805
NM_130811.4(SNAP25):c.176G>A (p.Arg59His)
NM_130811.4(SNAP25):c.219A>G (p.Glu73=)
NM_130811.4(SNAP25):c.220G>A (p.Ala74Thr) rs1600775326
NM_130811.4(SNAP25):c.22C>A (p.Arg8Ser)
NM_130811.4(SNAP25):c.25A>C (p.Asn9His) rs2063677130
NM_130811.4(SNAP25):c.281A>G (p.Lys94Arg) rs2123120986
NM_130811.4(SNAP25):c.34GAG[1] (p.Glu13del)
NM_130811.4(SNAP25):c.371G>A (p.Arg124Gln)
NM_130811.4(SNAP25):c.377A>G (p.Gln126Arg) rs2064127610
NM_130811.4(SNAP25):c.403C>T (p.Arg135Cys)
NM_130811.4(SNAP25):c.407+3G>A rs1871070779
NM_130811.4(SNAP25):c.425G>A (p.Arg142Gln) rs2064181232
NM_130811.4(SNAP25):c.42G>A (p.Met14Ile)
NM_130811.4(SNAP25):c.437T>A (p.Met146Lys)
NM_130811.4(SNAP25):c.469A>G (p.Ile157Val)
NM_130811.4(SNAP25):c.47G>A (p.Arg16Gln) rs760339630
NM_130811.4(SNAP25):c.482G>A (p.Arg161His)
NM_130811.4(SNAP25):c.487A>G (p.Met163Val) rs2123159174
NM_130811.4(SNAP25):c.488T>G (p.Met163Arg)
NM_130811.4(SNAP25):c.491C>A (p.Ala164Asp)
NM_130811.4(SNAP25):c.4G>A (p.Ala2Thr) rs769950821
NM_130811.4(SNAP25):c.503G>A (p.Gly168Asp) rs1600791112
NM_130811.4(SNAP25):c.503G>T (p.Gly168Val) rs1600791112
NM_130811.4(SNAP25):c.511A>G (p.Ile171Val)
NM_130811.4(SNAP25):c.535G>A (p.Asp179Asn)
NM_130811.4(SNAP25):c.552+4A>G
NM_130811.4(SNAP25):c.552+6C>T rs2123159776
NM_130811.4(SNAP25):c.566A>C (p.Lys189Thr)
NM_130811.4(SNAP25):c.568A>G (p.Thr190Ala)
NM_130811.4(SNAP25):c.569C>T (p.Thr190Ile) rs2064354640
NM_130811.4(SNAP25):c.57C>A (p.Asp19Glu)
NM_130811.4(SNAP25):c.591A>C (p.Gln197His) rs2064355285
NM_130811.4(SNAP25):c.592C>T (p.Arg198Cys)
NM_130811.4(SNAP25):c.595G>A (p.Ala199Thr)
NM_130811.4(SNAP25):c.596C>T (p.Ala199Val) rs2123205311
NM_130811.4(SNAP25):c.614G>A (p.Ser205Asn)
NM_130811.4(SNAP25):c.69T>G (p.Asp23Glu) rs1278243837
NM_130811.4(SNAP25):c.74C>A (p.Ser25Ter)
NM_130811.4(SNAP25):c.88C>T (p.Arg30Cys)

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