ClinVar Miner

List of variants in gene ALG14 reported as uncertain significance for Congenital myasthenic syndrome 15

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Total variants: 56
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HGVS dbSNP gnomAD frequency
NM_144988.4(ALG14):c.182A>G (p.Asn61Ser) rs138996965 0.00061
NM_144988.4(ALG14):c.532G>A (p.Val178Ile) rs373069354 0.00012
NM_144988.4(ALG14):c.179C>G (p.Ser60Cys) rs780277809 0.00011
NM_144988.4(ALG14):c.181A>G (p.Asn61Asp) rs577399329 0.00009
NM_144988.4(ALG14):c.422T>G (p.Val141Gly) rs139005007 0.00006
NM_144988.4(ALG14):c.140G>T (p.Gly47Val) rs139758313 0.00004
NM_144988.4(ALG14):c.310C>T (p.Arg104Ter) rs367570129 0.00004
NM_144988.4(ALG14):c.326G>A (p.Arg109Gln) rs199689080 0.00004
NM_144988.4(ALG14):c.406G>A (p.Val136Met) rs374376710 0.00004
NM_144988.4(ALG14):c.311G>A (p.Arg104Gln) rs201781289 0.00003
NM_144988.4(ALG14):c.570T>A (p.His190Gln) rs770065162 0.00003
NM_144988.4(ALG14):c.476T>C (p.Leu159Pro) rs746850097 0.00002
NM_144988.4(ALG14):c.560T>C (p.Ile187Thr) rs775514355 0.00002
NM_144988.4(ALG14):c.641G>A (p.Arg214Gln) rs767036165 0.00002
NM_144988.4(ALG14):c.191C>T (p.Ser64Leu) rs753195443 0.00001
NM_144988.4(ALG14):c.248C>A (p.Ser83Tyr) rs767402341 0.00001
NM_144988.4(ALG14):c.277C>G (p.Pro93Ala) rs775152763 0.00001
NM_144988.4(ALG14):c.280A>G (p.Ser94Gly) rs1360024892 0.00001
NM_144988.4(ALG14):c.328G>A (p.Glu110Lys) rs976380616 0.00001
NM_144988.4(ALG14):c.371A>C (p.His124Pro) rs1553228218 0.00001
NM_144988.4(ALG14):c.389T>A (p.Phe130Tyr) rs150452802 0.00001
NM_144988.4(ALG14):c.535G>A (p.Glu179Lys) rs957188576 0.00001
NM_144988.4(ALG14):c.539C>T (p.Thr180Met) rs750820046 0.00001
NC_000001.10:g.(?_95448632)_(95538454_?)dup
NC_000001.10:g.(?_95538299)_(95538454_?)del
NM_144988.4(ALG14):c.190T>C (p.Ser64Pro)
NM_144988.4(ALG14):c.199C>T (p.His67Tyr)
NM_144988.4(ALG14):c.203A>G (p.Tyr68Cys)
NM_144988.4(ALG14):c.210T>G (p.Ile70Met)
NM_144988.4(ALG14):c.245A>G (p.Asn82Ser) rs1192311417
NM_144988.4(ALG14):c.263G>A (p.Arg88Gln)
NM_144988.4(ALG14):c.288+4A>G rs2100841130
NM_144988.4(ALG14):c.288G>T (p.Met96Ile)
NM_144988.4(ALG14):c.289-2A>G rs1673851343
NM_144988.4(ALG14):c.313A>G (p.Ile105Val)
NM_144988.4(ALG14):c.323G>A (p.Ser108Asn) rs1673848834
NM_144988.4(ALG14):c.337C>G (p.Gln113Glu) rs1204743597
NM_144988.4(ALG14):c.342_344del (p.Trp115del) rs1210554241
NM_144988.4(ALG14):c.401A>C (p.His134Pro)
NM_144988.4(ALG14):c.402C>A (p.His134Gln)
NM_144988.4(ALG14):c.420+1G>A
NM_144988.4(ALG14):c.420+5G>A rs1571621391
NM_144988.4(ALG14):c.420+6_420+9del rs1673843345
NM_144988.4(ALG14):c.421G>A (p.Val141Met) rs946253637
NM_144988.4(ALG14):c.451C>T (p.Pro151Ser) rs2100709244
NM_144988.4(ALG14):c.464C>T (p.Ser155Phe) rs2100709222
NM_144988.4(ALG14):c.478G>A (p.Gly160Arg)
NM_144988.4(ALG14):c.503T>G (p.Ile168Ser) rs1431105428
NM_144988.4(ALG14):c.517G>T (p.Glu173Ter)
NM_144988.4(ALG14):c.529C>A (p.Arg177Ser) rs1279524858
NM_144988.4(ALG14):c.533T>G (p.Val178Gly) rs766184799
NM_144988.4(ALG14):c.549G>C (p.Met183Ile)
NM_144988.4(ALG14):c.551C>G (p.Ser184Cys) rs2100709015
NM_144988.4(ALG14):c.599C>T (p.Pro200Leu) rs1014644772
NM_144988.4(ALG14):c.619C>T (p.Pro207Ser)
NM_144988.4(ALG14):c.626C>T (p.Ser209Leu)

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