ClinVar Miner

List of variants reported as likely benign for congenital myasthenic syndrome by Illumina Laboratory Services, Illumina

Included ClinVar conditions (58):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 61
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HGVS dbSNP gnomAD frequency
NM_000334.4(SCN4A):c.968C>T (p.Thr323Met) rs80338952 0.01562
NM_000334.4(SCN4A):c.2717G>C (p.Ser906Thr) rs41280102 0.01003
NM_005677.4(COLQ):c.291G>A (p.Ser97=) rs115201284 0.00908
NM_000334.4(SCN4A):c.2341G>A (p.Val781Ile) rs62070884 0.00873
NM_005055.5(RAPSN):c.-72C>T rs117947983 0.00803
NM_000079.4(CHRNA1):c.*218C>T rs79539026 0.00579
NM_000080.4(CHRNE):c.*6A>G rs55806270 0.00487
NM_001244710.2(GFPT1):c.*6003G>T rs143649075 0.00416
NM_000079.4(CHRNA1):c.643G>A (p.Asp215Asn) rs148304857 0.00413
NM_000747.3(CHRNB1):c.1045-6C>G rs79209506 0.00404
NM_005592.4(MUSK):c.398T>C (p.Ile133Thr) rs55980069 0.00399
NM_001244710.2(GFPT1):c.*867G>A rs72905155 0.00389
NM_001244710.2(GFPT1):c.*2364C>T rs182934478 0.00379
NM_001244710.2(GFPT1):c.*2916A>G rs114138715 0.00379
NM_000334.4(SCN4A):c.2645C>A (p.Pro882Gln) rs111858905 0.00367
NM_000334.4(SCN4A):c.1796A>G (p.His599Arg) rs187401185 0.00343
NM_005592.4(MUSK):c.320G>A (p.Gly107Glu) rs55786136 0.00337
NM_001244710.2(GFPT1):c.*2428G>A rs191588030 0.00321
NM_001244710.2(GFPT1):c.*1053G>A rs535434783 0.00308
NM_000751.3(CHRND):c.1105C>T (p.Pro369Ser) rs2229194 0.00305
NM_005592.4(MUSK):c.80-8C>T rs199705752 0.00301
NM_000080.4(CHRNE):c.1220-5G>A rs188564977 0.00287
NM_000747.3(CHRNB1):c.-13G>C rs199903026 0.00278
NM_000080.4(CHRNE):c.918-6C>G rs141408756 0.00277
NM_005592.4(MUSK):c.1062G>A (p.Thr354=) rs139945437 0.00271
NM_005677.4(COLQ):c.789G>A (p.Pro263=) rs150061580 0.00251
NM_001244710.2(GFPT1):c.*4944A>G rs112572296 0.00246
NM_000080.4(CHRNE):c.1076C>T (p.Pro359Leu) rs192195094 0.00240
NM_000751.3(CHRND):c.862C>G (p.Gln288Glu) rs41265127 0.00239
NM_001244710.2(GFPT1):c.*4274A>T rs142243075 0.00237
NM_000334.4(SCN4A):c.*1828A>G rs79003915 0.00233
NM_000334.4(SCN4A):c.355G>A (p.Val119Ile) rs41280110 0.00232
NM_000079.4(CHRNA1):c.655C>T (p.Leu219=) rs150638770 0.00220
NM_005592.4(MUSK):c.2202C>T (p.Gly734=) rs143701488 0.00217
NM_000080.4(CHRNE):c.1425C>T (p.Leu475=) rs151193377 0.00197
NM_000751.3(CHRND):c.1530C>T (p.Asn510=) rs114463490 0.00175
NM_000751.3(CHRND):c.*365C>A rs112940737 0.00145
NM_000747.3(CHRNB1):c.243+14A>G rs376387886 0.00138
NM_005592.4(MUSK):c.486+7G>C rs187497836 0.00128
NM_000080.4(CHRNE):c.*858G>C rs375660349 0.00090
NM_000334.4(SCN4A):c.2697G>A (p.Leu899=) rs199827271 0.00044
NM_000747.3(CHRNB1):c.1359C>T (p.His453=) rs142053338 0.00041
NM_000751.3(CHRND):c.*676G>A rs183259359 0.00032
NM_005592.4(MUSK):c.2573G>A (p.Arg858His) rs34115159 0.00032
NM_005592.4(MUSK):c.500T>C (p.Ile167Thr) rs202045225 0.00029
NM_005677.4(COLQ):c.300C>T (p.Ser100=) rs2305611 0.00026
NM_005592.4(MUSK):c.2331C>T (p.Asn777=) rs56394142 0.00025
NM_001244710.2(GFPT1):c.*3134A>G rs79748218 0.00022
NM_000334.4(SCN4A):c.1430A>G (p.Lys477Arg) rs182691342 0.00021
NM_001244710.2(GFPT1):c.223+5C>T rs200631666 0.00021
NM_005677.4(COLQ):c.1081C>T (p.Pro361Ser) rs116828761 0.00021
NM_000747.3(CHRNB1):c.1217+9A>G rs145242880 0.00014
NM_000334.4(SCN4A):c.1288A>G (p.Ile430Val) rs149907018 0.00011
NM_001244710.2(GFPT1):c.*673A>G rs533310642 0.00009
NM_000079.4(CHRNA1):c.723C>T (p.Pro241=) rs189442556 0.00008
NM_005055.5(RAPSN):c.363C>T (p.Leu121=) rs190548363 0.00005
NM_005592.4(MUSK):c.2286C>T (p.Asp762=) rs199832657 0.00004
NM_000334.4(SCN4A):c.5191G>A (p.Ala1731Thr) rs371104286 0.00003
NM_000080.4(CHRNE):c.1242C>A (p.Gly414=) rs370770111
NM_000751.3(CHRND):c.*547G>C rs2343841
NM_001244710.2(GFPT1):c.116-12A>G rs540758570

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