ClinVar Miner

List of variants in gene combination C17orf107, CHRNE reported as uncertain significance for Congenital myasthenic syndrome

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Total variants: 63
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HGVS dbSNP gnomAD frequency
NM_000080.4(CHRNE):c.918-14T>C rs375376258 0.00131
NM_000080.4(CHRNE):c.901G>A (p.Val301Met) rs140023380 0.00046
NM_000080.4(CHRNE):c.581T>C (p.Ile194Thr) rs146931108 0.00042
NM_000080.4(CHRNE):c.66C>T (p.Asn22=) rs55770091 0.00031
NM_000080.4(CHRNE):c.23T>C (p.Val8Ala) rs199807050 0.00026
NM_000080.4(CHRNE):c.46+5G>A rs375802288 0.00025
NM_000080.4(CHRNE):c.556G>A (p.Gly186Ser) rs764960076 0.00019
NM_000080.4(CHRNE):c.797C>T (p.Ala266Val) rs201463598 0.00016
NM_000080.4(CHRNE):c.896T>C (p.Leu299Pro) rs142735836 0.00014
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.465C>T (p.Phe155=) rs139625105 0.00009
NM_000080.4(CHRNE):c.768C>T (p.Gly256=) rs372509633 0.00009
NM_000080.4(CHRNE):c.6A>G (p.Ala2=) rs202198207 0.00008
NM_000080.4(CHRNE):c.820A>G (p.Thr274Ala) rs774407731 0.00008
NM_000080.4(CHRNE):c.406G>A (p.Val136Met) rs773822199 0.00006
NM_000080.4(CHRNE):c.598A>G (p.Thr200Ala) rs1336284577 0.00004
NM_000080.4(CHRNE):c.781G>T (p.Ala261Ser) rs762509943 0.00004
NM_000080.4(CHRNE):c.818G>C (p.Cys273Ser) rs745821689 0.00004
NM_000080.4(CHRNE):c.189+5G>A rs906477326 0.00003
NM_000080.4(CHRNE):c.509C>G (p.Thr170Arg) rs375652301 0.00003
NM_000080.4(CHRNE):c.802+7A>C rs756213406 0.00003
NM_000080.4(CHRNE):c.118C>T (p.Arg40Trp) rs754001856 0.00002
NM_000080.4(CHRNE):c.16C>T (p.Leu6Phe) rs746521766 0.00002
NM_000080.4(CHRNE):c.235-5C>T rs371818740 0.00002
NM_000080.4(CHRNE):c.360C>T (p.Phe120=) rs140042356 0.00002
NM_000080.4(CHRNE):c.37G>A (p.Gly13Arg) rs372635387 0.00002
NM_000080.4(CHRNE):c.510G>A (p.Thr170=) rs749454549 0.00002
NM_000080.4(CHRNE):c.557G>A (p.Gly186Asp) rs1279921545 0.00002
NM_000080.4(CHRNE):c.569A>G (p.Asn190Ser) rs753756406 0.00002
NM_000080.4(CHRNE):c.705C>G (p.Ile235Met) rs748765369 0.00002
NM_000080.4(CHRNE):c.883C>T (p.Pro295Ser) rs61735425 0.00002
NM_000080.4(CHRNE):c.357G>A (p.Gln119=) rs747638974 0.00001
NM_000080.4(CHRNE):c.359T>C (p.Phe120Ser) rs771356927 0.00001
NM_000080.4(CHRNE):c.373G>A (p.Asp125Asn) rs1056080125 0.00001
NM_000080.4(CHRNE):c.46G>A (p.Gly16Ser) rs764552360 0.00001
NM_000080.4(CHRNE):c.580A>T (p.Ile194Phe) rs1020146692 0.00001
NM_000080.4(CHRNE):c.646C>T (p.Arg216Cys) rs577641512 0.00001
NM_000080.4(CHRNE):c.691A>G (p.Ile231Val) rs1226552673 0.00001
NM_000080.4(CHRNE):c.723C>T (p.Leu241=) rs886053126 0.00001
NM_000080.4(CHRNE):c.745G>A (p.Val249Met) rs757421529 0.00001
NM_000080.4(CHRNE):c.794C>G (p.Pro265Arg) rs759226183 0.00001
NM_000080.4(CHRNE):c.795G>A (p.Pro265=) rs1567638559 0.00001
NM_000080.4(CHRNE):c.7A>G (p.Arg3Gly) rs201118080 0.00001
NM_000080.4(CHRNE):c.945C>T (p.Ala315=) rs758560981 0.00001
NM_000080.4(CHRNE):c.107A>C (p.Asp36Ala) rs886053127
NM_000080.4(CHRNE):c.202G>A (p.Glu68Lys) rs149766604
NM_000080.4(CHRNE):c.202G>C (p.Glu68Gln) rs149766604
NM_000080.4(CHRNE):c.21G>T (p.Gly7=) rs1166759787
NM_000080.4(CHRNE):c.235G>T (p.Asp79Tyr) rs1200020913
NM_000080.4(CHRNE):c.382G>A (p.Val128Met) rs958078989
NM_000080.4(CHRNE):c.384_389del (p.Leu129_Val130del) rs1555546980
NM_000080.4(CHRNE):c.385_388del (p.Leu129fs) rs1411229157
NM_000080.4(CHRNE):c.410C>T (p.Thr137Met) rs146089157
NM_000080.4(CHRNE):c.47-8dup rs550750896
NM_000080.4(CHRNE):c.488C>G (p.Ser163Trp) rs121909516
NM_000080.4(CHRNE):c.501-10_504dup rs768552387
NM_000080.4(CHRNE):c.53G>C (p.Gly18Ala) rs4790235
NM_000080.4(CHRNE):c.619A>G (p.Ile207Val) rs1422386099
NM_000080.4(CHRNE):c.710G>A (p.Arg237His) rs201434993
NM_000080.4(CHRNE):c.808G>A (p.Gly270Ser) rs1447784617
NM_000080.4(CHRNE):c.858C>T (p.Phe286=) rs1597618773
NM_000080.4(CHRNE):c.918G>T (p.Arg306Ser) rs1453842961

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