ClinVar Miner

List of variants reported as likely benign for hereditary skeletal muscle disorder by Genome-Nilou Lab

Included ClinVar conditions (591):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 233
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000337.6(SGCD):c.*3962G>A rs56182215 0.08205
NM_000337.6(SGCD):c.*3687A>G rs72803046 0.08194
NM_000337.6(SGCD):c.*7300C>A rs72803048 0.06455
NC_000005.10:g.156326973A>T rs7725121 0.06375
NM_000337.6(SGCD):c.290G>A (p.Arg97Gln) rs45559835 0.04292
NM_000337.6(SGCD):c.*7596A>G rs80115276 0.02244
NM_004006.3(DMD):c.8762A>G (p.His2921Arg) rs1800279 0.02191
NM_001130987.2(DYSF):c.889-34C>T rs115184725 0.01903
NM_005138.2(SCO2):c.-142G>C rs145052206 0.01794
NM_000337.6(SGCD):c.*3898C>T rs74717343 0.01308
NM_145868.2(ANXA11):c.456C>T (p.Tyr152=) rs34003188 0.01293
NM_017739.4(POMGNT1):c.1666G>A (p.Asp556Asn) rs74374973 0.00994
NC_000005.10:g.156327097A>G rs77808502 0.00918
NM_000069.3(CACNA1S):c.1817G>A (p.Ser606Asn) rs142356235 0.00873
NM_001130987.2(DYSF):c.3228+208A>C rs143560409 0.00838
NM_001079802.2(FKTN):c.1336A>G (p.Asn446Asp) rs41313301 0.00809
NM_000069.3(CACNA1S):c.895T>C (p.Tyr299His) rs35856559 0.00797
NM_001130987.2(DYSF):c.4621C>T (p.Leu1541=) rs7573406 0.00792
NM_000337.6(SGCD):c.507G>A (p.Ala169=) rs10071079 0.00680
NM_000337.6(SGCD):c.294+8T>C rs11748588 0.00640
NM_000069.3(CACNA1S):c.4668+19T>C rs140742077 0.00573
NM_000069.3(CACNA1S):c.-68T>C rs140748567 0.00558
NM_000069.3(CACNA1S):c.252C>T (p.Leu84=) rs112868209 0.00555
NM_000069.3(CACNA1S):c.2745+14C>T rs74138824 0.00464
NM_001128227.3(GNE):c.51+63A>G rs185045598 0.00436
NM_001130987.2(DYSF):c.386G>A (p.Gly129Glu) rs34997054 0.00411
NM_000069.3(CACNA1S):c.3953+7G>A rs141071505 0.00409
NM_000069.3(CACNA1S):c.-60A>G rs145803564 0.00349
NM_017739.4(POMGNT1):c.301G>A (p.Val101Ile) rs150576537 0.00250
NM_000337.6(SGCD):c.699+71G>A rs187204080 0.00245
NM_000069.3(CACNA1S):c.5515C>T (p.Pro1839Ser) rs149547196 0.00241
NM_000337.6(SGCD):c.*2A>C rs200757725 0.00241
NM_015602.4(TOR1AIP1):c.70C>G (p.Pro24Ala) rs146976883 0.00233
NM_000069.3(CACNA1S):c.1711G>A (p.Val571Ile) rs114191482 0.00228
NM_015602.4(TOR1AIP1):c.1147G>A (p.Asp383Asn) rs149690630 0.00215
NM_000182.5(HADHA):c.-1G>T rs72809666 0.00211
NM_000069.3(CACNA1S):c.5570G>A (p.Ser1857Asn) rs72749169 0.00210
NM_001130987.2(DYSF):c.6180C>T (p.Pro2060=) rs147263499 0.00143
NM_001130987.2(DYSF):c.4937T>C (p.Ile1646Thr) rs146384562 0.00124
NM_000069.3(CACNA1S):c.3795+3G>A rs191758096 0.00113
NM_001164508.2(NEB):c.23267T>C (p.Met7756Thr) rs201767727 0.00108
NM_000337.6(SGCD):c.144G>C (p.Val48=) rs372152495 0.00106
NM_000069.3(CACNA1S):c.1452C>T (p.Tyr484=) rs144206959 0.00097
NM_000069.3(CACNA1S):c.4114-8T>C rs373675720 0.00076
NM_000069.3(CACNA1S):c.3425A>C (p.Gln1142Pro) rs139373152 0.00073
NM_001130987.2(DYSF):c.3228+205C>A rs149264392 0.00072
NM_000069.3(CACNA1S):c.5087C>T (p.Thr1696Met) rs367577681 0.00070
NM_000069.3(CACNA1S):c.3796-11C>T rs369565379 0.00061
NM_000069.3(CACNA1S):c.1948+10C>G rs201173419 0.00059
NM_000069.3(CACNA1S):c.345C>T (p.Asp115=) rs144218745 0.00054
NM_000069.3(CACNA1S):c.4339-14G>A rs200570483 0.00051
NM_015602.4(TOR1AIP1):c.531_532insTCA (p.Val177_Arg178insSer) rs145521179 0.00041
NM_000069.3(CACNA1S):c.4521C>T (p.Asp1507=) rs150962971 0.00038
NM_015602.4(TOR1AIP1):c.965-10del rs769057969 0.00035
NM_000069.3(CACNA1S):c.1948+18G>A rs113175669 0.00031
NM_000069.3(CACNA1S):c.2361-11C>T rs376279583 0.00030
NM_000337.6(SGCD):c.193-17T>G rs201079829 0.00027
NM_000069.3(CACNA1S):c.4747G>A (p.Glu1583Lys) rs148273582 0.00026
NM_000069.3(CACNA1S):c.2657+9C>T rs375784883 0.00025
NM_000069.3(CACNA1S):c.3616C>T (p.Leu1206=) rs148105111 0.00023
NM_000069.3(CACNA1S):c.1670G>A (p.Arg557His) rs4915212 0.00022
NM_000069.3(CACNA1S):c.1890G>A (p.Pro630=) rs141717649 0.00022
NM_000069.3(CACNA1S):c.2657+10G>A rs371339601 0.00022
NM_000069.3(CACNA1S):c.1949-7C>T rs368564115 0.00021
NM_000070.3(CAPN3):c.1668C>T (p.Ile556=) rs199884116 0.00018
NM_000069.3(CACNA1S):c.4026G>A (p.Ser1342=) rs757432785 0.00016
NM_000337.6(SGCD):c.-404G>A rs192662989 0.00016
NM_000337.6(SGCD):c.817C>T (p.Leu273=) rs375029639 0.00016
NM_000069.3(CACNA1S):c.4377C>T (p.Gly1459=) rs138189035 0.00015
NM_001164508.2(NEB):c.539A>G (p.Lys180Arg) rs200719359 0.00014
NM_000069.3(CACNA1S):c.4176C>G (p.Ser1392=) rs200935259 0.00013
NM_000069.3(CACNA1S):c.4954C>T (p.Arg1652Cys) rs143933255 0.00013
NM_000069.3(CACNA1S):c.5008T>A (p.Tyr1670Asn) rs146696748 0.00013
NM_000069.3(CACNA1S):c.789C>A (p.Gly263=) rs368173398 0.00013
NM_000070.3(CAPN3):c.552G>A (p.Thr184=) rs147808529 0.00012
NM_000232.5(SGCB):c.799C>T (p.Arg267Cys) rs200761715 0.00012
NM_000069.3(CACNA1S):c.2296C>A (p.Leu766Met) rs771865391 0.00011
NM_000069.3(CACNA1S):c.4996G>A (p.Ala1666Thr) rs145340252 0.00011
NM_000069.3(CACNA1S):c.5227-20C>T rs377205612 0.00011
NM_000069.3(CACNA1S):c.900+17G>A rs373839474 0.00011
NM_000069.3(CACNA1S):c.1949-6G>A rs373698107 0.00010
NM_000069.3(CACNA1S):c.2520C>T (p.Thr840=) rs147076871 0.00010
NM_000069.3(CACNA1S):c.4718C>T (p.Thr1573Met) rs183195890 0.00010
NM_000069.3(CACNA1S):c.5554G>A (p.Gly1852Arg) rs540721779 0.00010
NM_000069.3(CACNA1S):c.984G>T (p.Leu328=) rs367685667 0.00010
NM_000337.6(SGCD):c.3+11C>T rs374790317 0.00010
NM_001130987.2(DYSF):c.1149T>G (p.Pro383=) rs199955501 0.00010
NM_000069.3(CACNA1S):c.1151-18T>C rs112628416 0.00009
NM_000069.3(CACNA1S):c.1935C>T (p.Phe645=) rs550584336 0.00009
NM_000069.3(CACNA1S):c.3525+7del rs759199210 0.00009
NM_000069.3(CACNA1S):c.3657C>T (p.Cys1219=) rs376781102 0.00009
NM_000069.3(CACNA1S):c.2361-10G>A rs533238983 0.00008
NM_000069.3(CACNA1S):c.1324G>A (p.Val442Ile) rs572977674 0.00007
NM_000069.3(CACNA1S):c.1619+9C>T rs372942667 0.00007
NM_000069.3(CACNA1S):c.3429G>A (p.Ser1143=) rs373033092 0.00007
NM_000069.3(CACNA1S):c.5592C>T (p.Ser1864=) rs751405561 0.00007
NM_001130987.2(DYSF):c.1281C>T (p.Asp427=) rs147244033 0.00007
NM_000069.3(CACNA1S):c.1393+16G>A rs374866886 0.00006
NM_000069.3(CACNA1S):c.1619+10G>A rs374195664 0.00006
NM_000069.3(CACNA1S):c.1704C>A (p.Leu568=) rs201748367 0.00006
NM_000069.3(CACNA1S):c.2001G>A (p.Ala667=) rs61734612 0.00006
NM_000069.3(CACNA1S):c.2376T>C (p.Cys792=) rs528604695 0.00006
NM_000069.3(CACNA1S):c.2491-20C>T rs200340608 0.00006
NM_000069.3(CACNA1S):c.3210G>A (p.Glu1070=) rs200893062 0.00006
NM_000069.3(CACNA1S):c.3606C>T (p.Ile1202=) rs189797100 0.00006
NM_000069.3(CACNA1S):c.3796-13G>A rs374572342 0.00006
NM_000069.3(CACNA1S):c.3953+16C>T rs201874906 0.00006
NM_000069.3(CACNA1S):c.4669-11G>A rs376672151 0.00006
NM_000337.6(SGCD):c.295-20C>A rs144250417 0.00006
NM_015602.4(TOR1AIP1):c.66G>A (p.Arg22=) rs763572841 0.00006
NM_000069.3(CACNA1S):c.4572C>T (p.Tyr1524=) rs765581827 0.00005
NM_000069.3(CACNA1S):c.852C>T (p.Thr284=) rs372633174 0.00005
NM_000023.4(SGCA):c.1155C>T (p.Asp385=) rs183964744 0.00004
NM_000069.3(CACNA1S):c.2148C>T (p.Thr716=) rs747075757 0.00004
NM_000069.3(CACNA1S):c.297T>A (p.Ile99=) rs202132932 0.00004
NM_000069.3(CACNA1S):c.3090C>T (p.Asp1030=) rs766639108 0.00004
NM_000069.3(CACNA1S):c.3796-19G>A rs369787862 0.00004
NM_000069.3(CACNA1S):c.5370+7C>T rs571061537 0.00004
NM_000069.3(CACNA1S):c.87G>T (p.Arg29=) rs748352939 0.00004
NM_000069.3(CACNA1S):c.889G>A (p.Val297Ile) rs138205421 0.00004
NM_000337.6(SGCD):c.15G>C (p.Glu5Asp) rs549319429 0.00004
NM_000337.6(SGCD):c.393C>T (p.Ala131=) rs397517922 0.00004
NM_001130987.2(DYSF):c.2148G>A (p.Ala716=) rs201239189 0.00004
NM_015602.4(TOR1AIP1):c.252A>T (p.Arg84=) rs140133465 0.00004
NM_000023.4(SGCA):c.158-4C>A rs776411719 0.00003
NM_000069.3(CACNA1S):c.1290G>A (p.Lys430=) rs1241905770 0.00003
NM_000069.3(CACNA1S):c.1383C>G (p.Thr461=) rs144920422 0.00003
NM_000069.3(CACNA1S):c.2919C>T (p.Tyr973=) rs751043315 0.00003
NM_000069.3(CACNA1S):c.3129C>A (p.Ile1043=) rs774801845 0.00003
NM_000069.3(CACNA1S):c.3610-17G>A rs368357562 0.00003
NM_000069.3(CACNA1S):c.3667-5C>T rs368885124 0.00003
NM_000069.3(CACNA1S):c.4032T>C (p.Tyr1344=) rs138167275 0.00003
NM_000069.3(CACNA1S):c.4543+15G>A rs746717103 0.00003
NM_000069.3(CACNA1S):c.588C>G (p.Leu196=) rs746654928 0.00003
NM_000069.3(CACNA1S):c.915C>T (p.Ile305=) rs376517944 0.00003
NM_000337.6(SGCD):c.294+15A>C rs377470284 0.00003
NM_000337.6(SGCD):c.783C>T (p.Phe261=) rs768741617 0.00003
NM_000337.6(SGCD):c.798C>T (p.Cys266=) rs371850230 0.00003
NM_000069.3(CACNA1S):c.1302C>T (p.Phe434=) rs1051111849 0.00002
NM_000069.3(CACNA1S):c.1305T>C (p.Tyr435=) rs763639897 0.00002
NM_000069.3(CACNA1S):c.1347C>T (p.Ile449=) rs754689047 0.00002
NM_000069.3(CACNA1S):c.1591C>T (p.Arg531Cys) rs751671175 0.00002
NM_000069.3(CACNA1S):c.1619+15C>T rs771698501 0.00002
NM_000069.3(CACNA1S):c.1637G>A (p.Ser546Asn) rs373525085 0.00002
NM_000069.3(CACNA1S):c.1915A>G (p.Ile639Val) rs185777948 0.00002
NM_000069.3(CACNA1S):c.2310C>T (p.Ala770=) rs113659687 0.00002
NM_000069.3(CACNA1S):c.2539A>G (p.Ile847Val) rs764821044 0.00002
NM_000069.3(CACNA1S):c.259-14G>A rs762197754 0.00002
NM_000069.3(CACNA1S):c.2838C>T (p.Gly946=) rs759934490 0.00002
NM_000069.3(CACNA1S):c.2854-15T>G rs1405252446 0.00002
NM_000069.3(CACNA1S):c.2901G>A (p.Glu967=) rs745738564 0.00002
NM_000069.3(CACNA1S):c.3331G>A (p.Val1111Met) rs200558548 0.00002
NM_000069.3(CACNA1S):c.3610-18C>T rs747616430 0.00002
NM_000069.3(CACNA1S):c.4242-5C>T rs749316339 0.00002
NM_000069.3(CACNA1S):c.5135-4A>G rs1388042700 0.00002
NM_000337.6(SGCD):c.630C>T (p.Ile210=) rs763051644 0.00002
NM_000337.6(SGCD):c.786G>A (p.Glu262=) rs1197695649 0.00002
NM_004006.3(DMD):c.8226A>G (p.Gln2742=) rs746514008 0.00002
NM_000023.4(SGCA):c.1035G>A (p.Arg345=) rs374989747 0.00001
NM_000023.4(SGCA):c.147T>C (p.Pro49=) rs745447270 0.00001
NM_000023.4(SGCA):c.312+19A>C rs527959287 0.00001
NM_000023.4(SGCA):c.600G>A (p.Val200=) rs764188161 0.00001
NM_000069.3(CACNA1S):c.1611G>A (p.Lys537=) rs765888271 0.00001
NM_000069.3(CACNA1S):c.1632G>A (p.Ser544=) rs774899299 0.00001
NM_000069.3(CACNA1S):c.2658-10C>T rs760659248 0.00001
NM_000069.3(CACNA1S):c.2766C>T (p.Phe922=) rs376393159 0.00001
NM_000069.3(CACNA1S):c.2854-6C>T rs1033462438 0.00001
NM_000069.3(CACNA1S):c.2907-16G>A rs756591873 0.00001
NM_000069.3(CACNA1S):c.2922G>A (p.Val974=) rs377715551 0.00001
NM_000069.3(CACNA1S):c.2931C>T (p.Asp977=) rs374912997 0.00001
NM_000069.3(CACNA1S):c.331T>C (p.Leu111=) rs1453821550 0.00001
NM_000069.3(CACNA1S):c.3636G>A (p.Leu1212=) rs774191804 0.00001
NM_000069.3(CACNA1S):c.3663C>T (p.Asn1221=) rs773738696 0.00001
NM_000069.3(CACNA1S):c.3667-4G>A rs762497596 0.00001
NM_000069.3(CACNA1S):c.3876C>T (p.Ile1292=) rs748525277 0.00001
NM_000069.3(CACNA1S):c.3943C>T (p.Leu1315=) rs1262731998 0.00001
NM_000069.3(CACNA1S):c.4242-10C>G rs574154912 0.00001
NM_000069.3(CACNA1S):c.4242-4G>A rs780264366 0.00001
NM_000069.3(CACNA1S):c.4374C>T (p.Asp1458=) rs757017761 0.00001
NM_000069.3(CACNA1S):c.445A>G (p.Thr149Ala) rs74642988 0.00001
NM_000069.3(CACNA1S):c.5048+8C>T rs759622507 0.00001
NM_000069.3(CACNA1S):c.5135-7C>T rs886038223 0.00001
NM_000069.3(CACNA1S):c.541+18T>A rs760602154 0.00001
NM_000069.3(CACNA1S):c.541+7G>A rs1218931598 0.00001
NM_000069.3(CACNA1S):c.656A>G (p.Lys219Arg) rs771569004 0.00001
NM_000069.3(CACNA1S):c.870C>T (p.Thr290=) rs780305979 0.00001
NM_000070.3(CAPN3):c.1062G>A (p.Val354=) rs776793553 0.00001
NM_000337.6(SGCD):c.153C>T (p.Ala51=) rs1021837057 0.00001
NM_000337.6(SGCD):c.447C>G (p.Leu149=) rs1257378159 0.00001
NM_000337.6(SGCD):c.642T>C (p.Ala214=) rs778303434 0.00001
NM_001130987.2(DYSF):c.1905C>T (p.Ile635=) rs567956595 0.00001
NM_015602.4(TOR1AIP1):c.543A>G (p.Gln181=) rs150530440 0.00001
NM_015602.4(TOR1AIP1):c.555G>A (p.Val185=) rs769367527 0.00001
NM_024301.5(FKRP):c.9C>T (p.Leu3=) rs756295058 0.00001
NM_000023.4(SGCA):c.819G>A (p.Pro273=) rs35972733
NM_000069.3(CACNA1S):c.1047C>T (p.Thr349=) rs542505383
NM_000069.3(CACNA1S):c.1092G>C (p.Arg364=) rs763965450
NM_000069.3(CACNA1S):c.152+17G>A rs113558244
NM_000069.3(CACNA1S):c.1547C>T (p.Ser516Leu) rs140662085
NM_000069.3(CACNA1S):c.1563C>A (p.Pro521=) rs775975526
NM_000069.3(CACNA1S):c.1813A>G (p.Ile605Val) rs550246898
NM_000069.3(CACNA1S):c.1884C>G (p.Gly628=) rs200743095
NM_000069.3(CACNA1S):c.1948+10C>T rs201173419
NM_000069.3(CACNA1S):c.2505T>C (p.Phe835=) rs1057524226
NM_000069.3(CACNA1S):c.2613G>T (p.Leu871=) rs770064983
NM_000069.3(CACNA1S):c.2854-33CCTC[6] rs747117832
NM_000069.3(CACNA1S):c.2979C>T (p.Ser993=) rs146497999
NM_000069.3(CACNA1S):c.3953+14G>A rs201077181
NM_000069.3(CACNA1S):c.4113+7_4113+8inv
NM_000069.3(CACNA1S):c.429C>T (p.Asn143=) rs553580116
NM_000069.3(CACNA1S):c.4350C>A (p.Gly1450=) rs761794209
NM_000069.3(CACNA1S):c.4419G>A (p.Thr1473=) rs540448406
NM_000069.3(CACNA1S):c.4425C>T (p.Leu1475=) rs1553248697
NM_000069.3(CACNA1S):c.4669-6C>T
NM_000069.3(CACNA1S):c.5394C>A (p.Gly1798=) rs1558047794
NM_000069.3(CACNA1S):c.541+9C>T rs375541532
NM_000069.3(CACNA1S):c.542-9C>T rs767627454
NM_000069.3(CACNA1S):c.5490_5497del (p.Leu1832fs) rs554596425
NM_000069.3(CACNA1S):c.5574C>T (p.Leu1858=) rs756090938
NM_000069.3(CACNA1S):c.773G>A (p.Gly258Asp) rs35534614
NM_000337.6(SGCD):c.105G>C (p.Leu35=) rs193922392
NM_000337.6(SGCD):c.105G>T (p.Leu35=) rs193922392
NM_000337.6(SGCD):c.177C>T (p.Val59=) rs727505265
NM_000337.6(SGCD):c.204A>G (p.Gly68=)
NM_000337.6(SGCD):c.3+19C>T rs182715924
NM_000337.6(SGCD):c.363G>T (p.Val121=) rs1327634775
NM_000337.6(SGCD):c.594G>T (p.Arg198=) rs754875886
NM_000337.6(SGCD):c.699+13_699+15del rs397517924
NM_001130987.2(DYSF):c.3588C>T (p.Ile1196=) rs79899601
NM_001130987.2(DYSF):c.3678C>T (p.Ile1226=) rs148858485
NM_001130987.2(DYSF):c.605C>A (p.Ala202Glu) rs34999029
NM_001164508.2(NEB):c.153_167dup (p.52LAQPA[3]) rs757726895
NM_015602.4(TOR1AIP1):c.964+1G>A rs2274955

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