ClinVar Miner

List of variants reported as likely benign for Congenital myasthenic syndrome 18 by Labcorp Genetics (formerly Invitae), Labcorp

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 93
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HGVS dbSNP gnomAD frequency
NM_130811.4(SNAP25):c.6C>T (p.Ala2=) rs11547858 0.00036
NM_130811.4(SNAP25):c.534C>T (p.Ile178=) rs200030321 0.00023
NM_130811.4(SNAP25):c.366C>T (p.Asp122=) rs377498338 0.00008
NM_130811.4(SNAP25):c.115-20C>G rs201555996 0.00006
NM_130811.4(SNAP25):c.513C>T (p.Ile171=) rs372122045 0.00005
NM_130811.4(SNAP25):c.462C>T (p.Ser154=) rs201639889 0.00004
NM_130811.4(SNAP25):c.552+9G>A rs375161376 0.00004
NM_130811.4(SNAP25):c.73-9A>G rs371883444 0.00004
NM_130811.4(SNAP25):c.114+13A>G rs376612916 0.00003
NM_130811.4(SNAP25):c.393C>T (p.Gly131=) rs761144395 0.00003
NM_130811.4(SNAP25):c.394G>A (p.Gly132Ser) rs202003366 0.00003
NM_130811.4(SNAP25):c.471C>T (p.Ile157=) rs777212434 0.00003
NM_130811.4(SNAP25):c.552+8C>T rs528347276 0.00003
NM_130811.4(SNAP25):c.282-17C>T rs778696808 0.00002
NM_130811.4(SNAP25):c.73-5C>T rs776269607 0.00002
NC_000020.11:g.10299415G>T rs780941797 0.00001
NM_130811.4(SNAP25):c.105G>A (p.Leu35=) rs762926939 0.00001
NM_130811.4(SNAP25):c.114+7A>G rs2063714956 0.00001
NM_130811.4(SNAP25):c.115-12A>G rs774171317 0.00001
NM_130811.4(SNAP25):c.163+12T>C rs908718299 0.00001
NM_130811.4(SNAP25):c.164-4T>C rs138078125 0.00001
NM_130811.4(SNAP25):c.282-11C>G rs572878689 0.00001
NM_130811.4(SNAP25):c.407+12G>A rs752421716 0.00001
NM_130811.4(SNAP25):c.407+18T>C rs186894193 0.00001
NM_130811.4(SNAP25):c.514G>A (p.Asp172Asn) rs763898355 0.00001
NM_130811.4(SNAP25):c.516T>C (p.Asp172=) rs1250459700 0.00001
NM_130811.4(SNAP25):c.553-13C>T rs1568634670 0.00001
NM_130811.4(SNAP25):c.60G>A (p.Gln20=) rs895201209 0.00001
NM_130811.4(SNAP25):c.61T>C (p.Leu21=) rs753330896 0.00001
NM_130811.4(SNAP25):c.69T>C (p.Asp23=) rs1278243837 0.00001
NM_130811.4(SNAP25):c.72+13G>A rs752643793 0.00001
NM_130811.4(SNAP25):c.73-12T>C rs747388194 0.00001
NM_130811.4(SNAP25):c.73-16del rs747057791 0.00001
NM_130811.4(SNAP25):c.84C>T (p.Ser28=) rs956599079 0.00001
NM_130811.4(SNAP25):c.89G>A (p.Arg30His) rs577791521 0.00001
NC_000020.10:g.(?_10256140)_(10286845_?)dup
NM_130811.4(SNAP25):c.114+16A>G
NM_130811.4(SNAP25):c.114+18T>C rs200107809
NM_130811.4(SNAP25):c.114+8G>A rs2123019457
NM_130811.4(SNAP25):c.12C>T (p.Asp4=) rs769285280
NM_130811.4(SNAP25):c.141G>A (p.Leu47=) rs2123063889
NM_130811.4(SNAP25):c.163+20G>A rs1457848355
NM_130811.4(SNAP25):c.164-10G>T rs370270068
NM_130811.4(SNAP25):c.164-8T>A rs2514834526
NM_130811.4(SNAP25):c.165A>G (p.Glu55=) rs2123120164
NM_130811.4(SNAP25):c.180T>C (p.Ile60=) rs2123120284
NM_130811.4(SNAP25):c.183G>A (p.Glu61=) rs2123120317
NM_130811.4(SNAP25):c.186A>G (p.Glu62=) rs2123120338
NM_130811.4(SNAP25):c.189G>A (p.Gly63=) rs1051267
NM_130811.4(SNAP25):c.27T>C (p.Asn9=) rs1455256643
NM_130811.4(SNAP25):c.281+13T>A rs2514835014
NM_130811.4(SNAP25):c.281+17T>C rs1344090744
NM_130811.4(SNAP25):c.281+18G>C rs2514835026
NM_130811.4(SNAP25):c.282-15C>G rs2064124620
NM_130811.4(SNAP25):c.282-20T>A
NM_130811.4(SNAP25):c.282-20T>G rs2514845120
NM_130811.4(SNAP25):c.331G>A (p.Gly111Arg) rs1350657965
NM_130811.4(SNAP25):c.333A>G (p.Gly111=) rs2064126011
NM_130811.4(SNAP25):c.345C>T (p.Ser115=) rs2514845457
NM_130811.4(SNAP25):c.351T>A (p.Pro117=)
NM_130811.4(SNAP25):c.363G>A (p.Val121=) rs892617924
NM_130811.4(SNAP25):c.378G>A (p.Gln126=) rs2123143693
NM_130811.4(SNAP25):c.393C>A (p.Gly131=) rs761144395
NM_130811.4(SNAP25):c.393C>G (p.Gly131=) rs761144395
NM_130811.4(SNAP25):c.405C>T (p.Arg135=) rs2514845856
NM_130811.4(SNAP25):c.407+11T>A rs2123144086
NM_130811.4(SNAP25):c.407+11T>C rs2123144086
NM_130811.4(SNAP25):c.407+16C>G
NM_130811.4(SNAP25):c.407+5_407+19dup rs2123144027
NM_130811.4(SNAP25):c.408-11T>G rs2514852622
NM_130811.4(SNAP25):c.408-14T>C rs2514852609
NM_130811.4(SNAP25):c.408-18T>G rs2064180732
NM_130811.4(SNAP25):c.408-19C>T rs1285944911
NM_130811.4(SNAP25):c.408-8G>A rs2064180811
NM_130811.4(SNAP25):c.408-9G>T rs1444409308
NM_130811.4(SNAP25):c.424C>T (p.Arg142Ter) rs1235064890
NM_130811.4(SNAP25):c.426A>G (p.Arg142=) rs2123158690
NM_130811.4(SNAP25):c.427G>C (p.Glu143Gln) rs2514852762
NM_130811.4(SNAP25):c.471C>A (p.Ile157=) rs777212434
NM_130811.4(SNAP25):c.472G>A (p.Gly158Arg) rs2514852992
NM_130811.4(SNAP25):c.493C>T (p.Leu165=) rs2514853181
NM_130811.4(SNAP25):c.495G>A (p.Leu165=) rs2064182455
NM_130811.4(SNAP25):c.513C>A (p.Ile171=) rs372122045
NM_130811.4(SNAP25):c.51G>A (p.Arg17=) rs1439231615
NM_130811.4(SNAP25):c.528C>T (p.Arg176=) rs1166647040
NM_130811.4(SNAP25):c.552+12G>T rs749136251
NM_130811.4(SNAP25):c.553-12C>T rs1370471293
NM_130811.4(SNAP25):c.57_68del (p.Gln20_Asp23del) rs2123003652
NM_130811.4(SNAP25):c.594T>C (p.Arg198=) rs2123205294
NM_130811.4(SNAP25):c.72+11GA[3] rs758885481
NM_130811.4(SNAP25):c.72+7A>C rs1600733583
NM_130811.4(SNAP25):c.75G>A (p.Ser25=) rs147866099
NM_130811.4(SNAP25):c.93T>A (p.Arg31=) rs2123019204

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