ClinVar Miner

List of variants in gene MUSK reported as likely benign for congenital myasthenic syndrome 9

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 340
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HGVS dbSNP gnomAD frequency
NM_005592.4(MUSK):c.1991A>G (p.Asn664Ser) rs55963442 0.00777
NM_005592.4(MUSK):c.398T>C (p.Ile133Thr) rs55980069 0.00399
NM_005592.4(MUSK):c.320G>A (p.Gly107Glu) rs55786136 0.00337
NM_005592.4(MUSK):c.80-8C>T rs199705752 0.00301
NM_005592.4(MUSK):c.1062G>A (p.Thr354=) rs139945437 0.00271
NM_005592.4(MUSK):c.1931T>C (p.Val644Ala) rs41279055 0.00255
NM_005592.4(MUSK):c.2202C>T (p.Gly734=) rs143701488 0.00217
NM_005592.4(MUSK):c.486+7G>C rs187497836 0.00128
NM_005592.4(MUSK):c.665A>G (p.Asn222Ser) rs55826142 0.00116
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.1025C>T (p.Ala342Val) rs375762569 0.00044
NM_005592.4(MUSK):c.1057C>A (p.His353Asn) rs201791900 0.00043
NM_005592.4(MUSK):c.1928-4C>A rs375406874 0.00038
NM_005592.4(MUSK):c.2082C>A (p.Pro694=) rs201616041 0.00035
NM_005592.4(MUSK):c.300G>A (p.Thr100=) rs180928221 0.00034
NM_005592.4(MUSK):c.2573G>A (p.Arg858His) rs34115159 0.00032
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.500T>C (p.Ile167Thr) rs202045225 0.00029
NM_005592.4(MUSK):c.2331C>T (p.Asn777=) rs56394142 0.00025
NM_005592.4(MUSK):c.1743C>A (p.Ile581=) rs756096336 0.00022
NM_005592.4(MUSK):c.549A>G (p.Glu183=) rs369254308 0.00022
NM_005592.4(MUSK):c.2484C>T (p.Pro828=) rs779401827 0.00015
NM_005592.4(MUSK):c.1885C>T (p.Leu629Phe) rs34267283 0.00014
NM_005592.4(MUSK):c.206+10C>T rs371617202 0.00014
NM_005592.4(MUSK):c.776A>G (p.Glu259Gly) rs370071178 0.00014
NM_005592.4(MUSK):c.1806T>G (p.Pro602=) rs374078491 0.00013
NM_005592.4(MUSK):c.198T>C (p.Ile66=) rs567402281 0.00011
NM_005592.4(MUSK):c.1689C>G (p.Pro563=) rs376052538 0.00009
NM_005592.4(MUSK):c.1778+13A>G rs371275445 0.00008
NM_005592.4(MUSK):c.1863G>A (p.Ala621=) rs368049319 0.00006
NM_005592.4(MUSK):c.570T>C (p.Cys190=) rs746340721 0.00006
NM_005592.4(MUSK):c.913+10C>G rs761707078 0.00006
NM_005592.4(MUSK):c.1259G>A (p.Gly420Glu) rs373421409 0.00005
NM_005592.4(MUSK):c.1542T>G (p.Thr514=) rs762656586 0.00005
NM_005592.4(MUSK):c.1674G>A (p.Pro558=) rs541645382 0.00005
NM_005592.4(MUSK):c.1862C>T (p.Ala621Val) rs777853943 0.00005
NM_005592.4(MUSK):c.206+9T>C rs753218110 0.00005
NM_005592.4(MUSK):c.486+12T>A rs757179369 0.00005
NM_005592.4(MUSK):c.885C>T (p.Ala295=) rs756029372 0.00005
NM_005592.4(MUSK):c.1323T>C (p.His441=) rs369015815 0.00004
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.2286C>T (p.Asp762=) rs199832657 0.00004
NM_005592.4(MUSK):c.2403G>A (p.Gln801=) rs372194698 0.00004
NM_005592.4(MUSK):c.358+19C>T rs376236950 0.00004
NM_005592.4(MUSK):c.397A>G (p.Ile133Val) rs570136508 0.00004
NM_005592.4(MUSK):c.453A>G (p.Ser151=) rs373961420 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.2111G>A (p.Cys704Tyr) rs577931355 0.00003
NM_005592.4(MUSK):c.2406C>T (p.Pro802=) rs1444464544 0.00003
NM_005592.4(MUSK):c.1257A>G (p.Arg419=) rs550568354 0.00002
NM_005592.4(MUSK):c.1716G>A (p.Arg572=) rs747237685 0.00002
NM_005592.4(MUSK):c.1928-13C>A rs779820360 0.00002
NM_005592.4(MUSK):c.1944G>A (p.Gly648=) rs1206244035 0.00002
NM_005592.4(MUSK):c.2184C>A (p.Thr728=) rs918997958 0.00002
NM_005592.4(MUSK):c.2442C>T (p.Tyr814=) rs779578271 0.00002
NM_005592.4(MUSK):c.359-19A>G rs751238962 0.00002
NM_005592.4(MUSK):c.481C>T (p.Leu161Phe) rs1311636142 0.00002
NM_005592.4(MUSK):c.744C>T (p.Asn248=) rs765006536 0.00002
NM_005592.4(MUSK):c.753+7G>C rs193147263 0.00002
NM_005592.4(MUSK):c.978T>C (p.Asn326=) rs563391603 0.00002
NM_005592.4(MUSK):c.1329C>T (p.Asp443=) rs1174184253 0.00001
NM_005592.4(MUSK):c.1360+6dup rs1329670157 0.00001
NM_005592.4(MUSK):c.138T>C (p.Thr46=) rs776479773 0.00001
NM_005592.4(MUSK):c.1419G>A (p.Val473=) rs750052542 0.00001
NM_005592.4(MUSK):c.1446C>T (p.Ser482=) rs754903785 0.00001
NM_005592.4(MUSK):c.1512T>C (p.Phe504=) rs374722867 0.00001
NM_005592.4(MUSK):c.1650C>T (p.Pro550=) rs2077842363 0.00001
NM_005592.4(MUSK):c.1755G>A (p.Ala585=) rs377355441 0.00001
NM_005592.4(MUSK):c.1767G>C (p.Val589=) rs546916589 0.00001
NM_005592.4(MUSK):c.1778+17A>G rs769781832 0.00001
NM_005592.4(MUSK):c.1778+20A>G rs773113428 0.00001
NM_005592.4(MUSK):c.2397C>T (p.Gly799=) rs775509048 0.00001
NM_005592.4(MUSK):c.2433C>T (p.Val811=) rs761652640 0.00001
NM_005592.4(MUSK):c.57C>T (p.Ser19=) rs750615817 0.00001
NM_005592.4(MUSK):c.951C>T (p.Cys317=) rs1311522447 0.00001
NM_005592.4(MUSK):c.1005T>A (p.Val335=)
NM_005592.4(MUSK):c.1044A>G (p.Gln348=)
NM_005592.4(MUSK):c.1056C>T (p.Val352=)
NM_005592.4(MUSK):c.1065C>G (p.Ala355=)
NM_005592.4(MUSK):c.108A>G (p.Thr36=)
NM_005592.4(MUSK):c.1098C>T (p.Cys366=)
NM_005592.4(MUSK):c.1131C>T (p.His377=)
NM_005592.4(MUSK):c.117C>T (p.Ala39=)
NM_005592.4(MUSK):c.1184+10C>G rs2131956685
NM_005592.4(MUSK):c.1184+15A>C
NM_005592.4(MUSK):c.1184+20T>C
NM_005592.4(MUSK):c.1185-12A>G
NM_005592.4(MUSK):c.1185-14del
NM_005592.4(MUSK):c.1185-15C>T
NM_005592.4(MUSK):c.1185-17T>A
NM_005592.4(MUSK):c.1185-19T>A
NM_005592.4(MUSK):c.1185-19T>C
NM_005592.4(MUSK):c.1185-7A>G
NM_005592.4(MUSK):c.1185-8T>G rs371124725
NM_005592.4(MUSK):c.1185-9C>T
NM_005592.4(MUSK):c.1197G>A (p.Leu399=)
NM_005592.4(MUSK):c.1203A>G (p.Val401=) rs1356218784
NM_005592.4(MUSK):c.1212C>A (p.Leu404=)
NM_005592.4(MUSK):c.1218C>T (p.Cys406=) rs368395413
NM_005592.4(MUSK):c.1224A>G (p.Lys408=) rs1588025437
NM_005592.4(MUSK):c.1233G>A (p.Leu411=)
NM_005592.4(MUSK):c.1266C>T (p.Tyr422=)
NM_005592.4(MUSK):c.1287G>C (p.Leu429=)
NM_005592.4(MUSK):c.12C>A (p.Leu4=) rs374456998
NM_005592.4(MUSK):c.12C>G (p.Leu4=)
NM_005592.4(MUSK):c.12C>T (p.Leu4=) rs374456998
NM_005592.4(MUSK):c.132G>A (p.Val44=)
NM_005592.4(MUSK):c.1360+11G>C
NM_005592.4(MUSK):c.1360+13T>C
NM_005592.4(MUSK):c.1360+14C>T
NM_005592.4(MUSK):c.1360+18C>T
NM_005592.4(MUSK):c.1360+20A>G
NM_005592.4(MUSK):c.1360+7C>G
NM_005592.4(MUSK):c.1360+7_1360+8del rs780843719
NM_005592.4(MUSK):c.1361-13C>A
NM_005592.4(MUSK):c.1361-7C>T
NM_005592.4(MUSK):c.1377C>T (p.Asn459=)
NM_005592.4(MUSK):c.1384+12T>C
NM_005592.4(MUSK):c.1384+14T>C
NM_005592.4(MUSK):c.1384+20C>G
NM_005592.4(MUSK):c.1384+9T>C
NM_005592.4(MUSK):c.1385-12C>A
NM_005592.4(MUSK):c.1386A>G (p.Thr462=)
NM_005592.4(MUSK):c.1401G>A (p.Thr467=)
NM_005592.4(MUSK):c.1401G>T (p.Thr467=) rs761610023
NM_005592.4(MUSK):c.1416T>C (p.Ser472=)
NM_005592.4(MUSK):c.141C>T (p.Phe47=)
NM_005592.4(MUSK):c.1434G>A (p.Leu478=)
NM_005592.4(MUSK):c.1446C>G (p.Ser482=) rs754903785
NM_005592.4(MUSK):c.1452T>C (p.Ser484=) rs1588037471
NM_005592.4(MUSK):c.1455C>T (p.Ser485=)
NM_005592.4(MUSK):c.1461T>C (p.Ser487=)
NM_005592.4(MUSK):c.1473A>G (p.Thr491=)
NM_005592.4(MUSK):c.147T>C (p.Cys49=)
NM_005592.4(MUSK):c.1545C>T (p.Leu515=) rs868435163
NM_005592.4(MUSK):c.1586+12G>A
NM_005592.4(MUSK):c.1586+15dup
NM_005592.4(MUSK):c.1586+16C>T
NM_005592.4(MUSK):c.1586+7T>C
NM_005592.4(MUSK):c.1586+8T>C
NM_005592.4(MUSK):c.1587-14T>C
NM_005592.4(MUSK):c.1587-16C>T
NM_005592.4(MUSK):c.1587-5T>G
NM_005592.4(MUSK):c.1587-8G>C rs980952719
NM_005592.4(MUSK):c.1599A>G (p.Ala533=)
NM_005592.4(MUSK):c.1605C>A (p.Thr535=)
NM_005592.4(MUSK):c.1605C>T (p.Thr535=) rs760645831
NM_005592.4(MUSK):c.1611C>T (p.Thr537=)
NM_005592.4(MUSK):c.1615C>T (p.Leu539=)
NM_005592.4(MUSK):c.1623T>C (p.Ser541=)
NM_005592.4(MUSK):c.162C>T (p.Tyr54=)
NM_005592.4(MUSK):c.1638T>C (p.Asp546=)
NM_005592.4(MUSK):c.165C>T (p.Pro55=) rs766600402
NM_005592.4(MUSK):c.1689C>T (p.Pro563=) rs376052538
NM_005592.4(MUSK):c.1693T>C (p.Leu565=) rs200787064
NM_005592.4(MUSK):c.1698C>G (p.Leu566=)
NM_005592.4(MUSK):c.1704G>T (p.Leu568=) rs2077843780
NM_005592.4(MUSK):c.1707G>A (p.Glu569=)
NM_005592.4(MUSK):c.1722C>T (p.Asn574=)
NM_005592.4(MUSK):c.1734G>A (p.Val578=)
NM_005592.4(MUSK):c.1743C>T (p.Ile581=)
NM_005592.4(MUSK):c.1749G>A (p.Glu583=)
NM_005592.4(MUSK):c.174G>A (p.Glu58=)
NM_005592.4(MUSK):c.1778+18A>G
NM_005592.4(MUSK):c.1778+19A>C
NM_005592.4(MUSK):c.1778+25dup rs200937545
NM_005592.4(MUSK):c.1778+7T>C rs1021982098
NM_005592.4(MUSK):c.1779-16T>C
NM_005592.4(MUSK):c.1779-20T>C
NM_005592.4(MUSK):c.1788C>T (p.Gly596=)
NM_005592.4(MUSK):c.1789T>C (p.Leu597=)
NM_005592.4(MUSK):c.1818G>A (p.Val606=) rs2132034695
NM_005592.4(MUSK):c.1833C>A (p.Leu611=)
NM_005592.4(MUSK):c.1848G>A (p.Ser616=)
NM_005592.4(MUSK):c.1927+12C>A
NM_005592.4(MUSK):c.1927+17G>C
NM_005592.4(MUSK):c.1927+19G>A
NM_005592.4(MUSK):c.1927+8A>C
NM_005592.4(MUSK):c.1928-14T>C
NM_005592.4(MUSK):c.1928-14T>G
NM_005592.4(MUSK):c.1928-20G>T
NM_005592.4(MUSK):c.1928-4C>T
NM_005592.4(MUSK):c.1928-8G>C
NM_005592.4(MUSK):c.1965T>C (p.Phe655=)
NM_005592.4(MUSK):c.1980T>C (p.Tyr660=)
NM_005592.4(MUSK):c.2007C>T (p.Ser669=)
NM_005592.4(MUSK):c.2013C>G (p.Ser671=) rs1564300316
NM_005592.4(MUSK):c.2013C>T (p.Ser671=) rs1564300316
NM_005592.4(MUSK):c.2022C>T (p.Thr674=) rs772683882
NM_005592.4(MUSK):c.2031C>T (p.Ser677=)
NM_005592.4(MUSK):c.2058G>A (p.Arg686=) rs2132066129
NM_005592.4(MUSK):c.206+12A>T
NM_005592.4(MUSK):c.206+19_206+23del
NM_005592.4(MUSK):c.206+20A>T
NM_005592.4(MUSK):c.207-11G>A
NM_005592.4(MUSK):c.207-11G>C
NM_005592.4(MUSK):c.207-16T>C
NM_005592.4(MUSK):c.2079G>C (p.Gly693=)
NM_005592.4(MUSK):c.2082C>G (p.Pro694=)
NM_005592.4(MUSK):c.2082C>T (p.Pro694=) rs201616041
NM_005592.4(MUSK):c.2088C>A (p.Pro696=) rs751434801
NM_005592.4(MUSK):c.2103G>A (p.Glu701=)
NM_005592.4(MUSK):c.210C>A (p.Leu70=)
NM_005592.4(MUSK):c.2112C>T (p.Cys704=)
NM_005592.4(MUSK):c.2136C>T (p.Gly712=)
NM_005592.4(MUSK):c.2196G>A (p.Leu732=)
NM_005592.4(MUSK):c.2208C>T (p.Asn736=)
NM_005592.4(MUSK):c.2226C>T (p.Ala742=)
NM_005592.4(MUSK):c.222G>C (p.Arg74=)
NM_005592.4(MUSK):c.2256A>T (p.Ser752=)
NM_005592.4(MUSK):c.2274T>G (p.Ala758=)
NM_005592.4(MUSK):c.2277T>C (p.Asn759=) rs2132067450
NM_005592.4(MUSK):c.2289T>A (p.Ala763=)
NM_005592.4(MUSK):c.228C>T (p.Ser76=) rs768514590
NM_005592.4(MUSK):c.2292C>A (p.Ile764=)
NM_005592.4(MUSK):c.2292C>T (p.Ile764=) rs560916681
NM_005592.4(MUSK):c.232C>A (p.Arg78=) rs747987063
NM_005592.4(MUSK):c.234G>A (p.Arg78=)
NM_005592.4(MUSK):c.2355G>T (p.Val785=)
NM_005592.4(MUSK):c.2367C>T (p.Gly789=)
NM_005592.4(MUSK):c.2382G>A (p.Glu794=)
NM_005592.4(MUSK):c.2394T>C (p.Tyr798=)
NM_005592.4(MUSK):c.2398C>T (p.Leu800=) rs1303813392
NM_005592.4(MUSK):c.240T>C (p.Asn80=)
NM_005592.4(MUSK):c.2443G>T (p.Val815Leu) rs551520537
NM_005592.4(MUSK):c.2451T>C (p.Asp817=)
NM_005592.4(MUSK):c.2457C>T (p.Asn819=)
NM_005592.4(MUSK):c.2463C>T (p.Leu821=)
NM_005592.4(MUSK):c.2481C>T (p.Cys827=)
NM_005592.4(MUSK):c.2493G>A (p.Leu831=)
NM_005592.4(MUSK):c.2496C>T (p.Tyr832=)
NM_005592.4(MUSK):c.2511A>G (p.Leu837=) rs1447190013
NM_005592.4(MUSK):c.252C>G (p.Leu84=)
NM_005592.4(MUSK):c.255C>T (p.Thr85=)
NM_005592.4(MUSK):c.276T>C (p.Ser92=)
NM_005592.4(MUSK):c.282T>C (p.Asp94=)
NM_005592.4(MUSK):c.300G>C (p.Thr100=) rs180928221
NM_005592.4(MUSK):c.309T>C (p.Asn103=)
NM_005592.4(MUSK):c.30A>G (p.Val10=)
NM_005592.4(MUSK):c.315G>C (p.Val105=)
NM_005592.4(MUSK):c.33T>C (p.His11=)
NM_005592.4(MUSK):c.342C>A (p.Ala114=)
NM_005592.4(MUSK):c.351G>T (p.Val117=)
NM_005592.4(MUSK):c.358+17T>C
NM_005592.4(MUSK):c.358+18T>C
NM_005592.4(MUSK):c.358+19C>A
NM_005592.4(MUSK):c.358+20G>C
NM_005592.4(MUSK):c.358+9G>A
NM_005592.4(MUSK):c.359-16T>G
NM_005592.4(MUSK):c.359-7T>A
NM_005592.4(MUSK):c.360A>G (p.Lys120=)
NM_005592.4(MUSK):c.375T>C (p.Arg125=) rs2131713591
NM_005592.4(MUSK):c.417C>G (p.Val139=)
NM_005592.4(MUSK):c.444C>T (p.Pro148=)
NM_005592.4(MUSK):c.471A>G (p.Gly157=)
NM_005592.4(MUSK):c.484A>C (p.Arg162=)
NM_005592.4(MUSK):c.486+16G>A
NM_005592.4(MUSK):c.487-17G>A
NM_005592.4(MUSK):c.487-18C>T
NM_005592.4(MUSK):c.487-9C>T
NM_005592.4(MUSK):c.496C>A (p.Arg166=)
NM_005592.4(MUSK):c.513A>G (p.Glu171=)
NM_005592.4(MUSK):c.573G>A (p.Val191=)
NM_005592.4(MUSK):c.588C>T (p.Leu196=)
NM_005592.4(MUSK):c.597A>G (p.Ala199=)
NM_005592.4(MUSK):c.600T>C (p.Tyr200=)
NM_005592.4(MUSK):c.609G>A (p.Val203=) rs762882154
NM_005592.4(MUSK):c.628+11G>A
NM_005592.4(MUSK):c.629-10T>C rs753538572
NM_005592.4(MUSK):c.629-16del
NM_005592.4(MUSK):c.629-18C>T
NM_005592.4(MUSK):c.629-6T>C
NM_005592.4(MUSK):c.629-7C>T
NM_005592.4(MUSK):c.63T>C (p.Thr21=)
NM_005592.4(MUSK):c.646C>A (p.Arg216=)
NM_005592.4(MUSK):c.648G>C (p.Arg216=)
NM_005592.4(MUSK):c.675T>C (p.Phe225=)
NM_005592.4(MUSK):c.699T>C (p.Cys233=)
NM_005592.4(MUSK):c.708A>G (p.Thr236=)
NM_005592.4(MUSK):c.726C>A (p.Thr242=)
NM_005592.4(MUSK):c.738T>A (p.Ile246=)
NM_005592.4(MUSK):c.753+11T>C
NM_005592.4(MUSK):c.753+15T>C
NM_005592.4(MUSK):c.753+20G>A
NM_005592.4(MUSK):c.753+8T>C
NM_005592.4(MUSK):c.754-4T>C
NM_005592.4(MUSK):c.754-5G>C rs991886956
NM_005592.4(MUSK):c.754-6T>G
NM_005592.4(MUSK):c.754-9C>T
NM_005592.4(MUSK):c.759T>C (p.Ser253=)
NM_005592.4(MUSK):c.765G>A (p.Gly255=)
NM_005592.4(MUSK):c.768C>T (p.Ser256=)
NM_005592.4(MUSK):c.780T>C (p.Ser260=) rs886063353
NM_005592.4(MUSK):c.79+14A>G
NM_005592.4(MUSK):c.79+15T>C
NM_005592.4(MUSK):c.79+16C>T
NM_005592.4(MUSK):c.79+17G>A
NM_005592.4(MUSK):c.79+20T>C
NM_005592.4(MUSK):c.79+7T>C
NM_005592.4(MUSK):c.790C>A (p.Arg264=)
NM_005592.4(MUSK):c.795G>A (p.Val265=)
NM_005592.4(MUSK):c.80-15C>A
NM_005592.4(MUSK):c.80-19A>T
NM_005592.4(MUSK):c.80-7C>A
NM_005592.4(MUSK):c.80-7_80-3del
NM_005592.4(MUSK):c.80-9T>C
NM_005592.4(MUSK):c.804A>C (p.Ser268=)
NM_005592.4(MUSK):c.807A>G (p.Arg269=)
NM_005592.4(MUSK):c.831A>G (p.Pro277=)
NM_005592.4(MUSK):c.843A>C (p.Thr281=)
NM_005592.4(MUSK):c.855C>G (p.Thr285=)
NM_005592.4(MUSK):c.858T>C (p.Asn286=)
NM_005592.4(MUSK):c.861G>A (p.Lys287=)
NM_005592.4(MUSK):c.864T>C (p.His288=)
NM_005592.4(MUSK):c.879T>C (p.Ser293=)
NM_005592.4(MUSK):c.882T>A (p.Thr294=)
NM_005592.4(MUSK):c.900C>T (p.Thr300=)
NM_005592.4(MUSK):c.90C>T (p.Ile30=)
NM_005592.4(MUSK):c.913+10C>T
NM_005592.4(MUSK):c.913+11C>T
NM_005592.4(MUSK):c.913+13T>C
NM_005592.4(MUSK):c.913+9C>T
NM_005592.4(MUSK):c.914-10C>A
NM_005592.4(MUSK):c.914-5A>G
NM_005592.4(MUSK):c.920+10T>C rs781462535
NM_005592.4(MUSK):c.920+11G>A
NM_005592.4(MUSK):c.920+11_920+12del
NM_005592.4(MUSK):c.920+20del
NM_005592.4(MUSK):c.920+9C>T rs2131931808
NM_005592.4(MUSK):c.921-18_921-16del
NM_005592.4(MUSK):c.921-7C>T rs2131955302
NM_005592.4(MUSK):c.954C>A (p.Ala318=) rs968145791
NM_005592.4(MUSK):c.954C>G (p.Ala318=) rs968145791
NM_005592.4(MUSK):c.990A>G (p.Ala330=) rs1588014706

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