ClinVar Miner

List of variants studied for congenital myasthenic syndrome 4B

Included ClinVar conditions (2):
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Total variants: 51
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HGVS dbSNP gnomAD frequency
NM_000080.4(CHRNE):c.1293C>T (p.Ala431=) rs33978919 0.18524
NM_000080.4(CHRNE):c.*61C>T rs12940036 0.17963
NM_000080.4(CHRNE):c.917+15C>G rs12942540 0.16257
NM_000080.4(CHRNE):c.1220-45C>T rs75492003 0.09239
NM_000080.4(CHRNE):c.46+64G>A rs12602789 0.08447
NM_000080.4(CHRNE):c.*65C>T rs56067981 0.07414
NM_000080.4(CHRNE):c.1033-6C>T rs2075763 0.06582
NM_000080.4(CHRNE):c.103T>C (p.Tyr35His) rs144169073 0.00061
NM_000080.4(CHRNE):c.581T>C (p.Ile194Thr) rs146931108 0.00042
NM_000080.4(CHRNE):c.896T>C (p.Leu299Pro) rs142735836 0.00014
NM_000080.4(CHRNE):c.1042G>A (p.Glu348Lys) rs757968612 0.00013
NM_000080.4(CHRNE):c.506A>T (p.Gln169Leu) rs148370803 0.00010
NM_000080.4(CHRNE):c.710G>T (p.Arg237Leu) rs201434993 0.00010
NM_000080.4(CHRNE):c.1115C>T (p.Ala372Val) rs912512352 0.00006
NM_000080.4(CHRNE):c.-95G>A rs990457690 0.00003
NM_000080.4(CHRNE):c.971del (p.Ile324fs) rs879255562 0.00003
NM_000080.4(CHRNE):c.118C>T (p.Arg40Trp) rs754001856 0.00002
NM_000080.4(CHRNE):c.37G>A (p.Gly13Arg) rs372635387 0.00002
NM_000080.4(CHRNE):c.569A>G (p.Asn190Ser) rs753756406 0.00002
NM_000080.4(CHRNE):c.-96C>T rs748144899 0.00001
NM_000080.4(CHRNE):c.26T>G (p.Leu9Arg) rs1344336890 0.00001
NM_000080.4(CHRNE):c.422C>T (p.Pro141Leu) rs121909512 0.00001
NM_000080.4(CHRNE):c.1018C>T (p.Pro340Ser) rs1019584942
NM_000080.4(CHRNE):c.1052C>G (p.Pro351Arg)
NM_000080.4(CHRNE):c.1064del (p.Gly355fs) rs1567636622
NM_000080.4(CHRNE):c.1071GCC[4] (p.Pro360dup) rs752226476
NM_000080.4(CHRNE):c.1222G>A (p.Ala408Thr) rs1202290550
NM_000080.4(CHRNE):c.1254dup (p.Glu419fs) rs769945146
NM_000080.4(CHRNE):c.1291G>C (p.Ala431Pro) rs121909517
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_000080.4(CHRNE):c.1364ACA[1] (p.Asn456del) rs748289906
NM_000080.4(CHRNE):c.1402G>C (p.Val468Leu) rs139171143
NM_000080.4(CHRNE):c.1429del (p.Ala477fs) rs1396286715
NM_000080.4(CHRNE):c.223T>C (p.Trp75Arg) rs193919341
NM_000080.4(CHRNE):c.235-2A>G rs1597622118
NM_000080.4(CHRNE):c.3G>A (p.Met1Ile) rs1970039895
NM_000080.4(CHRNE):c.439G>A (p.Val147Ile) rs771950733
NM_000080.4(CHRNE):c.488C>T (p.Ser163Leu) rs121909516
NM_000080.4(CHRNE):c.583G>T (p.Asp195Tyr) rs774425374
NM_000080.4(CHRNE):c.602-4_602-3delinsTT rs1597619689
NM_000080.4(CHRNE):c.614_620del (p.Trp205fs) rs753828284
NM_000080.4(CHRNE):c.710G>A (p.Arg237His) rs201434993
NM_000080.4(CHRNE):c.794C>T (p.Pro265Leu) rs759226183
NM_000080.4(CHRNE):c.847C>T (p.Gln283Ter) rs773929089
NM_000080.4(CHRNE):c.917G>T (p.Arg306Met) rs2151096983
NM_000080.4(CHRNE):c.934_936del (p.Met312del) rs1555546465
NM_000080.4(CHRNE):c.991C>T (p.Arg331Trp) rs121909515
NM_000080.4(CHRNE):c.992G>A (p.Arg331Gln) rs760022829
NM_001145536.2(C17orf107):c.562G>C (p.Gly188Arg) rs1490577163

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