ClinVar Miner

List of variants in gene MUSK reported as uncertain significance for not provided

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Gene type:
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Total variants: 78
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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.1026G>A (p.Ala342=) rs200434321 0.00098
NM_005592.4(MUSK):c.2393A>G (p.Tyr798Cys) rs188840021 0.00049
NM_005592.4(MUSK):c.1025C>T (p.Ala342Val) rs375762569 0.00044
NM_005592.4(MUSK):c.1057C>A (p.His353Asn) rs201791900 0.00043
NM_005592.4(MUSK):c.2203G>A (p.Glu735Lys) rs138418494 0.00040
NM_005592.4(MUSK):c.486G>C (p.Arg162Ser) rs200750233 0.00032
NM_005592.4(MUSK):c.1951A>C (p.Met651Leu) rs199811263 0.00029
NM_005592.4(MUSK):c.2200G>A (p.Gly734Ser) rs376635652 0.00029
NM_005592.4(MUSK):c.1099C>T (p.Arg367Trp) rs201014623 0.00023
NM_005592.4(MUSK):c.2368G>A (p.Val790Met) rs199476083 0.00018
NM_005592.4(MUSK):c.1516A>G (p.Ile506Val) rs191581729 0.00011
NM_005592.4(MUSK):c.1061C>T (p.Thr354Met) rs200064775 0.00010
NM_005592.4(MUSK):c.979G>A (p.Ala327Thr) rs776201930 0.00010
NM_005592.4(MUSK):c.2520C>A (p.Ser840Arg) rs768074747 0.00009
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.929A>C (p.Gln310Pro) rs201804790 0.00006
NM_005592.4(MUSK):c.1522G>A (p.Val508Met) rs769267043 0.00004
NM_005592.4(MUSK):c.397A>G (p.Ile133Val) rs570136508 0.00004
NM_005592.4(MUSK):c.1128C>A (p.Asn376Lys) rs773285595 0.00003
NM_005592.4(MUSK):c.1277T>C (p.Met426Thr) rs368044285 0.00003
NM_005592.4(MUSK):c.1230G>C (p.Trp410Cys) rs751972431 0.00002
NM_005592.4(MUSK):c.1657A>G (p.Met553Val) rs753213086 0.00002
NM_005592.4(MUSK):c.1798T>A (p.Tyr600Asn) rs147562871 0.00002
NM_005592.4(MUSK):c.2014C>T (p.Pro672Ser) rs779042240 0.00002
NM_005592.4(MUSK):c.2077G>C (p.Gly693Arg) rs1216581384 0.00002
NM_005592.4(MUSK):c.2572C>T (p.Arg858Cys) rs200450921 0.00002
NM_005592.4(MUSK):c.373C>T (p.Arg125Cys) rs371157090 0.00002
NM_005592.4(MUSK):c.481C>T (p.Leu161Phe) rs1311636142 0.00002
NM_005592.4(MUSK):c.857A>G (p.Asn286Ser) rs747154421 0.00002
NM_005592.4(MUSK):c.1038G>T (p.Glu346Asp) rs764142979 0.00001
NM_005592.4(MUSK):c.1159G>T (p.Val387Leu) rs770907001 0.00001
NM_005592.4(MUSK):c.1744G>A (p.Gly582Arg) rs202126269 0.00001
NM_005592.4(MUSK):c.1895A>T (p.Glu632Val) rs769807910 0.00001
NM_005592.4(MUSK):c.1969T>C (p.Tyr657His) rs760452360 0.00001
NM_005592.4(MUSK):c.2339C>T (p.Thr780Ile) rs754976866 0.00001
NM_005592.4(MUSK):c.233G>A (p.Arg78Gln) rs776815006 0.00001
NM_005592.4(MUSK):c.2608T>C (p.Ter870Gln) rs201134491 0.00001
NM_005592.4(MUSK):c.308A>G (p.Asn103Ser) rs551423795 0.00001
NM_005592.4(MUSK):c.467A>T (p.Lys156Met) rs1048310820 0.00001
NM_005592.4(MUSK):c.557G>C (p.Gly186Ala) rs373304727 0.00001
NM_005592.4(MUSK):c.629-3C>T rs577774989 0.00001
NM_005592.4(MUSK):c.697T>C (p.Cys233Arg) rs376911820 0.00001
NM_005592.4(MUSK):c.1185-24T>A
NM_005592.4(MUSK):c.1277T>A (p.Met426Lys) rs368044285
NM_005592.4(MUSK):c.1445C>G (p.Ser482Cys)
NM_005592.4(MUSK):c.1478C>T (p.Ser493Phe)
NM_005592.4(MUSK):c.1503_1504insACC (p.Met501_Ser502insThr) rs886043719
NM_005592.4(MUSK):c.1613C>G (p.Thr538Arg) rs928134595
NM_005592.4(MUSK):c.1673C>G (p.Pro558Arg) rs369745938
NM_005592.4(MUSK):c.1757T>G (p.Phe586Cys)
NM_005592.4(MUSK):c.1763G>A (p.Arg588Lys)
NM_005592.4(MUSK):c.1778G>C (p.Arg593Thr)
NM_005592.4(MUSK):c.1852G>A (p.Asp618Asn)
NM_005592.4(MUSK):c.1882G>A (p.Ala628Thr)
NM_005592.4(MUSK):c.1928-8G>A
NM_005592.4(MUSK):c.2003G>A (p.Arg668His)
NM_005592.4(MUSK):c.2023G>A (p.Val675Met)
NM_005592.4(MUSK):c.2090T>A (p.Leu697His)
NM_005592.4(MUSK):c.20T>C (p.Ile7Thr)
NM_005592.4(MUSK):c.2208C>G (p.Asn736Lys) rs770373727
NM_005592.4(MUSK):c.2251T>C (p.Tyr751His)
NM_005592.4(MUSK):c.2269A>C (p.Lys757Gln)
NM_005592.4(MUSK):c.2292C>T (p.Ile764=) rs560916681
NM_005592.4(MUSK):c.2356T>C (p.Trp786Arg)
NM_005592.4(MUSK):c.2365G>A (p.Gly789Ser) rs1057518966
NM_005592.4(MUSK):c.2388C>G (p.Phe796Leu)
NM_005592.4(MUSK):c.2441A>G (p.Tyr814Cys)
NM_005592.4(MUSK):c.2461C>T (p.Leu821Phe) rs2078085499
NM_005592.4(MUSK):c.2520C>G (p.Ser840Arg)
NM_005592.4(MUSK):c.254C>T (p.Thr85Ile)
NM_005592.4(MUSK):c.2584A>G (p.Arg862Gly)
NM_005592.4(MUSK):c.361C>T (p.Pro121Ser)
NM_005592.4(MUSK):c.568T>C (p.Cys190Arg)
NM_005592.4(MUSK):c.721C>T (p.Pro241Ser) rs1564253296
NM_005592.4(MUSK):c.899C>A (p.Thr300Asn) rs1554749322
NM_005592.4(MUSK):c.952G>A (p.Ala318Thr)

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