ClinVar Miner

List of variants reported as uncertain significance for Congenital myasthenic syndrome 8 by Revvity Omics, Revvity

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Total variants: 38
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HGVS dbSNP gnomAD frequency
NM_198576.4(AGRN):c.3575G>A (p.Arg1192Gln) rs200339732 0.00053
NM_198576.4(AGRN):c.1198C>T (p.Arg400Trp) rs149636063 0.00032
NM_198576.4(AGRN):c.2002G>A (p.Glu668Lys) rs199801106 0.00023
NM_198576.4(AGRN):c.1864C>T (p.Arg622Trp) rs142143178 0.00019
NM_198576.4(AGRN):c.2666C>T (p.Ala889Val) rs532395667 0.00016
NM_198576.4(AGRN):c.1557C>T (p.Ala519=) rs146185843 0.00012
NM_198576.4(AGRN):c.4517C>T (p.Ala1506Val) rs373657385 0.00011
NM_198576.4(AGRN):c.2971C>T (p.Leu991Phe) rs749588875 0.00009
NM_198576.4(AGRN):c.4178C>T (p.Thr1393Met) rs766462843 0.00009
NM_198576.4(AGRN):c.4124C>T (p.Pro1375Leu) rs750116279 0.00006
NM_198576.4(AGRN):c.4286G>A (p.Arg1429His) rs756082014 0.00005
NM_198576.4(AGRN):c.5497G>A (p.Val1833Ile) rs377622440 0.00004
NM_198576.4(AGRN):c.1718C>T (p.Thr573Met) rs757402635 0.00002
NM_198576.4(AGRN):c.2276C>T (p.Pro759Leu) rs1214623286 0.00001
NM_198576.4(AGRN):c.2867G>A (p.Arg956His) rs757057339 0.00001
NM_198576.4(AGRN):c.410G>T (p.Ser137Ile) rs376542441 0.00001
NM_198576.4(AGRN):c.4114G>A (p.Ala1372Thr) rs376441344 0.00001
NM_198576.4(AGRN):c.4503C>G (p.Asp1501Glu) rs770460630 0.00001
NM_198576.4(AGRN):c.5293G>A (p.Val1765Ile) rs369850742 0.00001
NM_198576.4(AGRN):c.10C>T (p.Arg4Trp)
NM_198576.4(AGRN):c.1678G>A (p.Val560Met)
NM_198576.4(AGRN):c.1702G>A (p.Gly568Ser) rs1645008527
NM_198576.4(AGRN):c.238G>C (p.Val80Leu)
NM_198576.4(AGRN):c.2482C>G (p.Pro828Ala)
NM_198576.4(AGRN):c.3394A>C (p.Lys1132Gln)
NM_198576.4(AGRN):c.3569G>C (p.Arg1190Pro) rs149762107
NM_198576.4(AGRN):c.3584G>A (p.Gly1195Glu)
NM_198576.4(AGRN):c.3881C>G (p.Thr1294Arg)
NM_198576.4(AGRN):c.3935C>A (p.Thr1312Asn)
NM_198576.4(AGRN):c.3977C>A (p.Pro1326His)
NM_198576.4(AGRN):c.4339G>A (p.Val1447Met) rs201436229
NM_198576.4(AGRN):c.4757C>T (p.Ala1586Val)
NM_198576.4(AGRN):c.4779_4793del (p.Gln1593_Cys1597del) rs769494139
NM_198576.4(AGRN):c.5332G>A (p.Ala1778Thr) rs538792693
NM_198576.4(AGRN):c.5670C>A (p.Ser1890Arg)
NM_198576.4(AGRN):c.5908A>G (p.Asn1970Asp) rs1473312060
NM_198576.4(AGRN):c.593AGA[1] (p.Lys199del) rs749209897
NM_198576.4(AGRN):c.810C>T (p.Cys270=)

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