ClinVar Miner

List of variants reported as uncertain significance for congenital myasthenic syndrome 9 by Illumina Laboratory Services, Illumina

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 51
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HGVS dbSNP gnomAD frequency
NM_005592.4(MUSK):c.1931T>C (p.Val644Ala) rs41279055 0.00255
NM_005592.4(MUSK):c.666T>C (p.Asn222=) rs56044404 0.00208
NM_005592.4(MUSK):c.914-14T>G rs146206123 0.00207
NM_005592.4(MUSK):c.665A>G (p.Asn222Ser) rs55826142 0.00116
NM_005592.4(MUSK):c.1941C>T (p.Val647=) rs200312379 0.00108
NM_005592.4(MUSK):c.1683G>A (p.Leu561=) rs192173278 0.00105
NM_005592.4(MUSK):c.1779-7C>T rs114362384 0.00072
NM_005592.4(MUSK):c.1719T>C (p.Asn573=) rs373118888 0.00064
NM_005592.4(MUSK):c.2393A>G (p.Tyr798Cys) rs188840021 0.00049
NM_005592.4(MUSK):c.2203G>A (p.Glu735Lys) rs138418494 0.00040
NM_005592.4(MUSK):c.300G>A (p.Thr100=) rs180928221 0.00034
NM_005592.4(MUSK):c.486G>C (p.Arg162Ser) rs200750233 0.00032
NM_005592.4(MUSK):c.1099C>T (p.Arg367Trp) rs201014623 0.00023
NM_005592.4(MUSK):c.549A>G (p.Glu183=) rs369254308 0.00022
NM_005592.4(MUSK):c.206+10C>T rs371617202 0.00014
NM_005592.4(MUSK):c.1516A>G (p.Ile506Val) rs191581729 0.00011
NM_005592.4(MUSK):c.2520C>A (p.Ser840Arg) rs768074747 0.00009
NM_005592.4(MUSK):c.-43G>A rs116884176 0.00008
NM_005592.4(MUSK):c.1942G>A (p.Gly648Arg) rs201291910 0.00008
NM_005592.4(MUSK):c.2287G>A (p.Ala763Thr) rs199507468 0.00008
NM_005592.4(MUSK):c.1863G>A (p.Ala621=) rs368049319 0.00006
NM_005592.4(MUSK):c.913+10C>G rs761707078 0.00006
NM_005592.4(MUSK):c.929A>C (p.Gln310Pro) rs201804790 0.00006
NM_005592.4(MUSK):c.1522G>A (p.Val508Met) rs769267043 0.00004
NM_005592.4(MUSK):c.2098G>A (p.Ala700Thr) rs547450130 0.00004
NM_005592.4(MUSK):c.486+15T>C rs369902312 0.00004
NM_005592.4(MUSK):c.1277T>C (p.Met426Thr) rs368044285 0.00003
NM_005592.4(MUSK):c.1014C>A (p.Asn338Lys) rs373175897 0.00002
NM_005592.4(MUSK):c.2447G>A (p.Arg816Gln) rs764486887 0.00002
NM_005592.4(MUSK):c.2561G>A (p.Arg854Gln) rs754275653 0.00002
NM_005592.4(MUSK):c.373C>T (p.Arg125Cys) rs371157090 0.00002
NM_005592.4(MUSK):c.857A>G (p.Asn286Ser) rs747154421 0.00002
NM_005592.4(MUSK):c.1102C>T (p.Pro368Ser) rs768323977 0.00001
NM_005592.4(MUSK):c.1291G>A (p.Val431Met) rs372013406 0.00001
NM_005592.4(MUSK):c.2333G>A (p.Arg778His) rs751712655 0.00001
NM_005592.4(MUSK):c.233G>A (p.Arg78Gln) rs776815006 0.00001
NM_005592.4(MUSK):c.239A>G (p.Asn80Ser) rs772926677 0.00001
NM_005592.4(MUSK):c.467A>T (p.Lys156Met) rs1048310820 0.00001
NM_005592.4(MUSK):c.538G>A (p.Val180Ile) rs1468498564 0.00001
NM_005592.4(MUSK):c.701C>T (p.Thr234Ile) rs1170201682 0.00001
NM_005592.4(MUSK):c.797T>C (p.Ile266Thr) rs184488481 0.00001
NM_005592.4(MUSK):c.1035G>T (p.Glu345Asp) rs1394359501
NM_005592.4(MUSK):c.1250C>T (p.Thr417Ile) rs538655454
NM_005592.4(MUSK):c.131T>C (p.Val44Ala) rs2076148894
NM_005592.4(MUSK):c.1372G>A (p.Glu458Lys) rs867786307
NM_005592.4(MUSK):c.1446C>G (p.Ser482=) rs754903785
NM_005592.4(MUSK):c.1928-6T>C rs886063355
NM_005592.4(MUSK):c.2171G>A (p.Arg724Gln) rs2078077032
NM_005592.4(MUSK):c.2353G>A (p.Val785Met) rs2078081817
NM_005592.4(MUSK):c.374G>A (p.Arg125His) rs375737188
NM_005592.4(MUSK):c.780T>C (p.Ser260=) rs886063353

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