List of variants in gene SNAP25 studied for congenital myasthenic syndrome 18

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 159

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_130811.4(SNAP25):c.*239G>T	rs3746544	0.67678
NM_130811.4(SNAP25):c.-63-21820G>A	rs363050	0.56821
NM_130811.4(SNAP25):c.552+23G>A	rs363006	0.16391
NM_130811.4(SNAP25):c.330C>T (p.Asp110=)	rs362998	0.10905
NM_130811.4(SNAP25):c.553-4C>T	rs79020892	0.01788
NM_130811.4(SNAP25):c.75G>T (p.Ser25=)	rs147866099	0.00128
NM_130811.4(SNAP25):c.6C>T (p.Ala2=)	rs11547858	0.00040
NM_130811.4(SNAP25):c.534C>T (p.Ile178=)	rs200030321	0.00025
NM_130811.4(SNAP25):c.281+16C>T	rs375764492	0.00014
NM_130811.4(SNAP25):c.366C>T (p.Asp122=)	rs377498338	0.00008
NM_130811.4(SNAP25):c.23G>A (p.Arg8His)	rs374115269	0.00007
NM_130811.4(SNAP25):c.115-20C>G	rs201555996	0.00006
NM_130811.4(SNAP25):c.13G>A (p.Ala5Thr)	rs201770060	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.527G>A (p.Arg176His)	rs751046094	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.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.296A>T (p.Asp99Val)	rs745741842	0.00002
NM_130811.4(SNAP25):c.356G>A (p.Arg119His)	rs774645750	0.00002
NM_130811.4(SNAP25):c.407+18T>C	rs186894193	0.00002
NM_130811.4(SNAP25):c.408-3C>T	rs1385382718	0.00002
NM_130811.4(SNAP25):c.73-5C>T	rs776269607	0.00002
NM_003081.5(SNAP25):c.552+3G>T	rs780941797	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.115-15A>G	rs552723518	0.00001
NM_130811.4(SNAP25):c.164-4T>C	rs138078125	0.00001
NM_130811.4(SNAP25):c.256G>A (p.Gly86Arg)	rs763054916	0.00001
NM_130811.4(SNAP25):c.358G>A (p.Val120Ile)	rs761830881	0.00001
NM_130811.4(SNAP25):c.394G>A (p.Gly132Ser)	rs202003366	0.00001
NM_130811.4(SNAP25):c.404G>A (p.Arg135His)	rs1315869651	0.00001
NM_130811.4(SNAP25):c.407+12G>A	rs752421716	0.00001
NM_130811.4(SNAP25):c.463G>A (p.Gly155Ser)	rs2064181965	0.00001
NM_130811.4(SNAP25):c.514G>A (p.Asp172Asn)	rs763898355	0.00001
NM_130811.4(SNAP25):c.553-13C>T	rs1568634670	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.7G>A (p.Glu3Lys)	rs535525064	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
NM_130811.4(SNAP25):c.92G>A (p.Arg31His)	rs1341058084	0.00001
NC_000020.10:g.(?_10256140)_(10286845_?)del
NM_130811.4(SNAP25):c.103C>A (p.Leu35Met)
NM_130811.4(SNAP25):c.105G>A (p.Leu35=)
NM_130811.4(SNAP25):c.114+18T>C	rs200107809
NM_130811.4(SNAP25):c.114+3A>C
NM_130811.4(SNAP25):c.114+8G>A	rs2123019457
NM_130811.4(SNAP25):c.114G>C (p.Glu38Asp)	rs763997141
NM_130811.4(SNAP25):c.11A>G (p.Asp4Gly)	rs11547861
NM_130811.4(SNAP25):c.12C>T (p.Asp4=)	rs769285280
NM_130811.4(SNAP25):c.136A>C (p.Thr46Pro)	rs2063842678
NM_130811.4(SNAP25):c.141G>A (p.Leu47=)	rs2123063889
NM_130811.4(SNAP25):c.144_146dup (p.Val48_Met49insIle)	rs2063842805
NM_130811.4(SNAP25):c.163+12T>C
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
NM_130811.4(SNAP25):c.165A>G (p.Glu55=)	rs2123120164
NM_130811.4(SNAP25):c.170T>C (p.Leu57Pro)	rs2123120184
NM_130811.4(SNAP25):c.176G>A (p.Arg59His)
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.200T>A (p.Ile67Asn)	rs1555794286
NM_130811.4(SNAP25):c.219A>G (p.Glu73=)
NM_130811.4(SNAP25):c.220G>A (p.Ala74Thr)	rs1600775326
NM_130811.4(SNAP25):c.22C>A (p.Arg8Ser)
NM_130811.4(SNAP25):c.25A>C (p.Asn9His)	rs2063677130
NM_130811.4(SNAP25):c.26A>G (p.Asn9Ser)	rs1364361088
NM_130811.4(SNAP25):c.27T>C (p.Asn9=)
NM_130811.4(SNAP25):c.281+13T>A
NM_130811.4(SNAP25):c.281+17T>C
NM_130811.4(SNAP25):c.281+18G>C
NM_130811.4(SNAP25):c.281A>G (p.Lys94Arg)	rs2123120986
NM_130811.4(SNAP25):c.282-11C>G
NM_130811.4(SNAP25):c.282-15C>G
NM_130811.4(SNAP25):c.282-20T>G
NM_130811.4(SNAP25):c.292A>G (p.Ser98Gly)
NM_130811.4(SNAP25):c.331G>A (p.Gly111Arg)
NM_130811.4(SNAP25):c.333A>G (p.Gly111=)
NM_130811.4(SNAP25):c.345C>T (p.Ser115=)
NM_130811.4(SNAP25):c.34GAG[1] (p.Glu13del)
NM_130811.4(SNAP25):c.363G>A (p.Val121=)
NM_130811.4(SNAP25):c.371G>A (p.Arg124Gln)
NM_130811.4(SNAP25):c.377A>G (p.Gln126Arg)	rs2064127610
NM_130811.4(SNAP25):c.378G>A (p.Gln126=)	rs2123143693
NM_130811.4(SNAP25):c.393C>A (p.Gly131=)
NM_130811.4(SNAP25):c.393C>G (p.Gly131=)	rs761144395
NM_130811.4(SNAP25):c.403C>T (p.Arg135Cys)
NM_130811.4(SNAP25):c.405C>T (p.Arg135=)
NM_130811.4(SNAP25):c.407+11T>A	rs2123144086
NM_130811.4(SNAP25):c.407+11T>C	rs2123144086
NM_130811.4(SNAP25):c.407+3G>A	rs1871070779
NM_130811.4(SNAP25):c.407+5_407+19dup	rs2123144027
NM_130811.4(SNAP25):c.408-11T>G
NM_130811.4(SNAP25):c.408-14T>C
NM_130811.4(SNAP25):c.408-18T>G
NM_130811.4(SNAP25):c.408-19C>T
NM_130811.4(SNAP25):c.408-8G>A
NM_130811.4(SNAP25):c.408-9G>T
NM_130811.4(SNAP25):c.424C>T (p.Arg142Ter)	rs1235064890
NM_130811.4(SNAP25):c.425G>A (p.Arg142Gln)	rs2064181232
NM_130811.4(SNAP25):c.426A>G (p.Arg142=)	rs2123158690
NM_130811.4(SNAP25):c.427G>C (p.Glu143Gln)
NM_130811.4(SNAP25):c.437T>A (p.Met146Lys)
NM_130811.4(SNAP25):c.469A>G (p.Ile157Val)
NM_130811.4(SNAP25):c.471C>A (p.Ile157=)	rs777212434
NM_130811.4(SNAP25):c.472G>A (p.Gly158Arg)
NM_130811.4(SNAP25):c.47G>A (p.Arg16Gln)	rs760339630
NM_130811.4(SNAP25):c.487A>G (p.Met163Val)	rs2123159174
NM_130811.4(SNAP25):c.488T>G (p.Met163Arg)
NM_130811.4(SNAP25):c.491C>A (p.Ala164Asp)
NM_130811.4(SNAP25):c.493C>T (p.Leu165=)
NM_130811.4(SNAP25):c.495G>A (p.Leu165=)	rs2064182455
NM_130811.4(SNAP25):c.4G>A (p.Ala2Thr)	rs769950821
NM_130811.4(SNAP25):c.503G>A (p.Gly168Asp)	rs1600791112
NM_130811.4(SNAP25):c.503G>T (p.Gly168Val)	rs1600791112
NM_130811.4(SNAP25):c.508_528dup (p.Arg176_Gln177insGluIleAspThrGlnAsnArg)
NM_130811.4(SNAP25):c.511A>G (p.Ile171Val)
NM_130811.4(SNAP25):c.513C>A (p.Ile171=)	rs372122045
NM_130811.4(SNAP25):c.516T>C (p.Asp172=)
NM_130811.4(SNAP25):c.51G>A (p.Arg17=)
NM_130811.4(SNAP25):c.528C>T (p.Arg176=)
NM_130811.4(SNAP25):c.529C>T (p.Gln177Ter)
NM_130811.4(SNAP25):c.542T>A (p.Ile181Asn)
NM_130811.4(SNAP25):c.552+12G>T
NM_130811.4(SNAP25):c.552+6C>T	rs2123159776
NM_130811.4(SNAP25):c.553-12C>T
NM_130811.4(SNAP25):c.553G>C (p.Ala185Pro)	rs1600807788
NM_130811.4(SNAP25):c.566A>C (p.Lys189Thr)
NM_130811.4(SNAP25):c.568A>G (p.Thr190Ala)
NM_130811.4(SNAP25):c.569C>T (p.Thr190Ile)	rs2064354640
NM_130811.4(SNAP25):c.57C>A (p.Asp19Glu)
NM_130811.4(SNAP25):c.57_68del (p.Gln20_Asp23del)	rs2123003652
NM_130811.4(SNAP25):c.589C>T (p.Gln197Ter)	rs2064355122
NM_130811.4(SNAP25):c.591A>C (p.Gln197His)	rs2064355285
NM_130811.4(SNAP25):c.592C>T (p.Arg198Cys)
NM_130811.4(SNAP25):c.593G>C (p.Arg198Pro)	rs2064355563
NM_130811.4(SNAP25):c.594T>C (p.Arg198=)	rs2123205294
NM_130811.4(SNAP25):c.596C>T (p.Ala199Val)	rs2123205311
NM_130811.4(SNAP25):c.60G>A (p.Gln20=)
NM_130811.4(SNAP25):c.614G>A (p.Ser205Asn)
NM_130811.4(SNAP25):c.61T>C (p.Leu21=)
NM_130811.4(SNAP25):c.69T>G (p.Asp23Glu)	rs1278243837
NM_130811.4(SNAP25):c.72+11GA[3]	rs758885481
NM_130811.4(SNAP25):c.72+7A>C
NM_130811.4(SNAP25):c.73-12T>C
NM_130811.4(SNAP25):c.73-16del
NM_130811.4(SNAP25):c.74C>T (p.Ser25Leu)
NM_130811.4(SNAP25):c.75G>A (p.Ser25=)	rs147866099
NM_130811.4(SNAP25):c.88C>T (p.Arg30Cys)
NM_130811.4(SNAP25):c.93T>A (p.Arg31=)	rs2123019204

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.