ClinVar Miner

List of variants studied for Congenital myasthenic syndrome by GeneReviews

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Total variants: 21
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HGVS dbSNP gnomAD frequency
NM_005055.5(RAPSN):c.264C>A (p.Asn88Lys) rs104894299 0.00149
NM_005055.5(RAPSN):c.-210A>G rs786200905 0.00002
NM_000334.4(SCN4A):c.4360C>T (p.Arg1454Trp) rs879253789 0.00001
NM_198576.4(AGRN):c.5023G>A (p.Gly1675Ser) rs764160563 0.00001
NM_198576.4(AGRN):c.5611G>A (p.Gly1871Arg) rs763818876 0.00001
1p36.33 deletion (0.48 Mb)
NC_000017.11:g.4902680_4903969delinsTCTGGATGCG
NM_000080.4(CHRNE):c.130dup (p.Glu44fs) rs762368691
NM_000080.4(CHRNE):c.1327del rs763258280
NM_000080.4(CHRNE):c.1353dup (p.Asn452fs) rs773526895
NM_000334.4(SCN4A):c.4325T>A (p.Val1442Glu) rs121908553
NM_000334.4(SCN4A):c.737C>T (p.Ser246Leu) rs80338951
NM_005055.5(RAPSN):c.-199C>G rs886037842
NM_020549.5(CHAT):c.914T>C (p.Ile305Thr) rs75466054
NM_173660.5(DOK7):c.1124_1127dup (p.Ala378fs) rs606231128
NM_198576.4(AGRN):c.1057C>T (p.Gln353Ter) rs587777299
NM_198576.4(AGRN):c.1362dup (p.Ser455fs) rs879253788
NM_198576.4(AGRN):c.226G>A (p.Gly76Ser) rs756623659
NM_198576.4(AGRN):c.314A>T (p.Asn105Ile) rs879253787
NM_198576.4(AGRN):c.5125G>C (p.Gly1709Arg) rs199476396
NM_198576.4(AGRN):c.5179G>T (p.Val1727Phe) rs587777298

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