ClinVar Miner

List of variants reported as uncertain significance for congenital myasthenic syndrome 11 by Illumina Laboratory Services, Illumina

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 35
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HGVS dbSNP gnomAD frequency
NM_005055.5(RAPSN):c.162G>A (p.Ser54=) rs72905825 0.00337
NM_005055.5(RAPSN):c.*211G>A rs542424704 0.00276
NM_005055.5(RAPSN):c.821G>A (p.Ser274Asn) rs140996453 0.00138
NM_005055.5(RAPSN):c.474C>T (p.Asp158=) rs56245238 0.00114
NM_005055.5(RAPSN):c.1190G>A (p.Arg397Gln) rs139398367 0.00067
NM_005055.5(RAPSN):c.412G>A (p.Val138Ile) rs35810986 0.00065
NM_005055.5(RAPSN):c.492C>T (p.Arg164=) rs146237774 0.00046
NM_005055.5(RAPSN):c.903G>A (p.Ala301=) rs56040810 0.00028
NM_005055.5(RAPSN):c.1041G>A (p.Ala347=) rs149683345 0.00016
NM_005055.5(RAPSN):c.-23G>A rs370356548 0.00011
NM_005055.5(RAPSN):c.640G>A (p.Val214Met) rs201124957 0.00010
NM_005055.5(RAPSN):c.928G>A (p.Glu310Lys) rs367565995 0.00009
NM_005055.5(RAPSN):c.690+10C>T rs78293924 0.00006
NM_005055.5(RAPSN):c.1066G>A (p.Val356Met) rs570140663 0.00005
NM_005055.5(RAPSN):c.202G>A (p.Val68Ile) rs200892332 0.00005
NM_005055.5(RAPSN):c.364G>A (p.Gly122Arg) rs150756111 0.00005
NM_005055.5(RAPSN):c.140G>A (p.Gly47Asp) rs201725858 0.00004
NM_005055.5(RAPSN):c.*16G>A rs886048386 0.00003
NM_005055.5(RAPSN):c.-78G>A rs562440280 0.00002
NM_005055.5(RAPSN):c.360G>T (p.Gln120His) rs780338213 0.00002
NM_005055.5(RAPSN):c.*80G>C rs886048385 0.00001
NM_005055.5(RAPSN):c.-113C>T rs547817383 0.00001
NM_005055.5(RAPSN):c.-121C>T rs753969285 0.00001
NM_005055.5(RAPSN):c.1099G>A (p.Gly367Ser) rs369104346 0.00001
NM_005055.5(RAPSN):c.1212C>T (p.Arg404=) rs2076326463 0.00001
NM_005055.5(RAPSN):c.192+12C>T rs774654232 0.00001
NM_005055.5(RAPSN):c.781G>A (p.Asp261Asn) rs762865029 0.00001
NM_005055.5(RAPSN):c.-118C>A rs886048389
NM_005055.5(RAPSN):c.102G>C (p.Glu34Asp) rs2076432091
NM_005055.5(RAPSN):c.429G>C (p.Leu143=) rs762052702
NM_005055.5(RAPSN):c.457G>A (p.Ala153Thr) rs142635726
NM_005055.5(RAPSN):c.457G>T (p.Ala153Ser) rs142635726
NM_005055.5(RAPSN):c.691-4G>T rs886048388
NM_005055.5(RAPSN):c.912+9G>A rs751790521
NM_005055.5(RAPSN):c.912+9G>T rs751790521

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