ClinVar Miner

List of variants in gene DES reported as likely benign for hereditary skeletal muscle disorder

Included ClinVar conditions (587):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 303
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001927.4(DES):c.669T>C (p.Ile223=) rs75882680 0.02876
NM_001927.4(DES):c.408C>T (p.Leu136=) rs111828114 0.02697
NM_001927.4(DES):c.1026C>T (p.Asn342=) rs61731508 0.02125
NM_001927.4(DES):c.372G>A (p.Glu124=) rs34365369 0.01950
NM_001927.4(DES):c.*662G>A rs116635264 0.01332
NM_001927.4(DES):c.638C>T (p.Ala213Val) rs41272699 0.01015
NM_001927.4(DES):c.1375G>A (p.Val459Ile) rs73991549 0.00981
NM_001927.4(DES):c.792C>T (p.Asp264=) rs150370918 0.00168
NM_001927.4(DES):c.935A>C (p.Asp312Ala) rs148947510 0.00093
NM_001927.4(DES):c.785A>T (p.Glu262Val) rs147327878 0.00083
NM_001927.4(DES):c.656C>T (p.Thr219Ile) rs144901249 0.00058
NM_001927.4(DES):c.640-16G>A rs181712657 0.00028
NM_001927.4(DES):c.736-8C>A rs140375681 0.00021
NM_001927.4(DES):c.1288+20C>T rs200657337 0.00018
NM_001927.4(DES):c.243C>T (p.Ser81=) rs201594392 0.00015
NM_001927.4(DES):c.1257C>T (p.Pro419=) rs143154982 0.00013
NM_001927.4(DES):c.665G>A (p.Arg222His) rs367961979 0.00011
NM_001927.4(DES):c.897+16C>T rs370385097 0.00011
NM_001927.4(DES):c.1024-11C>A rs566280820 0.00009
NM_001927.4(DES):c.540C>T (p.Arg180=) rs757644636 0.00009
NM_001927.4(DES):c.642C>T (p.Asp214=) rs370239228 0.00009
NM_001927.4(DES):c.699C>T (p.Asn233=) rs758066814 0.00009
NM_001927.4(DES):c.736-19G>A rs745667526 0.00009
NM_001927.4(DES):c.1011C>T (p.Ala337=) rs369537705 0.00007
NM_001927.4(DES):c.1024-7C>G rs779098835 0.00006
NM_001927.4(DES):c.99C>T (p.Pro33=) rs774006810 0.00006
NM_001927.4(DES):c.1158C>T (p.Arg386=) rs774323736 0.00004
NM_001927.4(DES):c.1289-18C>T rs367712053 0.00004
NM_001927.4(DES):c.639+18C>T rs768129908 0.00004
NM_001927.4(DES):c.63C>T (p.Ala21=) rs201458068 0.00004
NM_001927.4(DES):c.936C>T (p.Asp312=) rs769213907 0.00003
NM_001927.4(DES):c.1008C>T (p.Asp336=) rs531293539 0.00002
NM_001927.4(DES):c.1116G>A (p.Glu372=) rs752030448 0.00002
NM_001927.4(DES):c.258C>G (p.Gly86=) rs994454109 0.00002
NM_001927.4(DES):c.414C>G (p.Ala138=) rs1445220768 0.00002
NM_001927.4(DES):c.489G>A (p.Arg163=) rs1448975712 0.00002
NM_001927.4(DES):c.690A>G (p.Glu230=) rs142145822 0.00002
NM_001927.4(DES):c.708C>T (p.Ile236=) rs886044078 0.00002
NM_001927.4(DES):c.897+13G>A rs201433470 0.00002
NM_001927.4(DES):c.933C>T (p.Asn311=) rs756434148 0.00002
NM_001927.4(DES):c.993C>T (p.Tyr331=) rs200858541 0.00002
NM_001927.4(DES):c.1023+14C>T rs899305731 0.00001
NM_001927.4(DES):c.1023+15A>G rs755376246 0.00001
NM_001927.4(DES):c.1023+8C>A rs749582840 0.00001
NM_001927.4(DES):c.1024-9C>T rs201552590 0.00001
NM_001927.4(DES):c.1050G>A (p.Arg350=) rs769505280 0.00001
NM_001927.4(DES):c.1179C>T (p.Asn393=) rs955390251 0.00001
NM_001927.4(DES):c.1180G>A (p.Val394Met) rs776786349 0.00001
NM_001927.4(DES):c.1191C>T (p.Ala397=) rs1157219537 0.00001
NM_001927.4(DES):c.1209C>T (p.Ala403=) rs200054661 0.00001
NM_001927.4(DES):c.1227G>A (p.Leu409=) rs143954788 0.00001
NM_001927.4(DES):c.1272T>C (p.Ser424=) rs370720293 0.00001
NM_001927.4(DES):c.12C>A (p.Ala4=) rs762566962 0.00001
NM_001927.4(DES):c.1335G>A (p.Thr445=) rs780984657 0.00001
NM_001927.4(DES):c.1407G>A (p.Val469=) rs1273197280 0.00001
NM_001927.4(DES):c.150G>T (p.Thr50=) rs1179760415 0.00001
NM_001927.4(DES):c.217C>A (p.Arg73=) rs1954367704 0.00001
NM_001927.4(DES):c.225G>A (p.Gly75=) rs777582958 0.00001
NM_001927.4(DES):c.237G>A (p.Thr79=) rs727503899 0.00001
NM_001927.4(DES):c.261G>A (p.Glu87=) rs770325337 0.00001
NM_001927.4(DES):c.273C>T (p.Phe91=) rs1025329460 0.00001
NM_001927.4(DES):c.282C>G (p.Ala94=) rs397516693 0.00001
NM_001927.4(DES):c.291G>A (p.Val97=) rs775205419 0.00001
NM_001927.4(DES):c.300G>A (p.Glu100=) rs1339030541 0.00001
NM_001927.4(DES):c.348T>C (p.Asn116=) rs766333303 0.00001
NM_001927.4(DES):c.357C>T (p.Phe119=) rs1156903614 0.00001
NM_001927.4(DES):c.402G>A (p.Ala134=) rs369297392 0.00001
NM_001927.4(DES):c.411C>G (p.Ala137=) rs549278754 0.00001
NM_001927.4(DES):c.516G>A (p.Gln172=) rs1014762661 0.00001
NM_001927.4(DES):c.534C>T (p.Val178=) rs1163205960 0.00001
NM_001927.4(DES):c.54C>T (p.Phe18=) rs1420981881 0.00001
NM_001927.4(DES):c.552C>T (p.Leu184=) rs1050510822 0.00001
NM_001927.4(DES):c.559C>T (p.Leu187=) rs1314756792 0.00001
NM_001927.4(DES):c.598T>C (p.Leu200=) rs1320454372 0.00001
NM_001927.4(DES):c.60G>A (p.Gly20=) rs1058253 0.00001
NM_001927.4(DES):c.621T>C (p.Asn207=) rs763036386 0.00001
NM_001927.4(DES):c.640-10C>T rs750812904 0.00001
NM_001927.4(DES):c.640-17C>T rs762068048 0.00001
NM_001927.4(DES):c.640-4C>G rs375680081 0.00001
NM_001927.4(DES):c.66G>A (p.Pro22=) rs767502653 0.00001
NM_001927.4(DES):c.673C>T (p.Leu225=) rs774330779 0.00001
NM_001927.4(DES):c.714C>T (p.Phe238=) rs780896752 0.00001
NM_001927.4(DES):c.816C>T (p.Ala272=) rs759823001 0.00001
NM_001927.4(DES):c.822C>T (p.Leu274=) rs763599850 0.00001
NM_001927.4(DES):c.855G>A (p.Ala285=) rs139818514 0.00001
NM_001927.4(DES):c.894G>A (p.Ser298=) rs747073500 0.00001
NM_001927.4(DES):c.897+12C>T rs771116995 0.00001
NM_001927.4(DES):c.897+17G>A rs137945254 0.00001
NM_001927.4(DES):c.898-5C>T rs371053066 0.00001
NM_001927.4(DES):c.912C>T (p.Thr304=) rs778826152 0.00001
NM_001927.4(DES):c.1002G>A (p.Glu334=)
NM_001927.4(DES):c.1023+10T>C
NM_001927.4(DES):c.1023+11G>A
NM_001927.4(DES):c.1024-10T>C
NM_001927.4(DES):c.1024-10del
NM_001927.4(DES):c.1024-11C>T rs566280820
NM_001927.4(DES):c.1024-13C>G
NM_001927.4(DES):c.1024-14C>T rs1954436833
NM_001927.4(DES):c.1024-17T>C rs756252550
NM_001927.4(DES):c.1024-17T>G rs756252550
NM_001927.4(DES):c.1024-18G>T rs1272088858
NM_001927.4(DES):c.1024-6C>G
NM_001927.4(DES):c.1024-7C>T rs779098835
NM_001927.4(DES):c.1035G>A (p.Leu345=)
NM_001927.4(DES):c.1041G>A (p.Arg347=) rs2125168616
NM_001927.4(DES):c.1059G>A (p.Glu353=) rs1575014856
NM_001927.4(DES):c.1062C>T (p.Asp354=)
NM_001927.4(DES):c.1074T>C (p.Ser358=)
NM_001927.4(DES):c.1077G>A (p.Glu359=)
NM_001927.4(DES):c.1101T>A (p.Ile367=)
NM_001927.4(DES):c.1101T>C (p.Ile367=) rs1575014904
NM_001927.4(DES):c.1122C>A (p.Ile374=)
NM_001927.4(DES):c.1134G>A (p.Lys378=) rs1575014950
NM_001927.4(DES):c.1146C>T (p.Ala382=)
NM_001927.4(DES):c.114G>A (p.Ala38=) rs368901105
NM_001927.4(DES):c.114G>C (p.Ala38=)
NM_001927.4(DES):c.114G>T (p.Ala38=) rs368901105
NM_001927.4(DES):c.1176C>G (p.Leu392=) rs1553603568
NM_001927.4(DES):c.1185G>A (p.Lys395=) rs1386068029
NM_001927.4(DES):c.1200G>A (p.Val400=)
NM_001927.4(DES):c.1218G>C (p.Arg406=)
NM_001927.4(DES):c.1224G>A (p.Leu408=) rs1454100254
NM_001927.4(DES):c.1227G>T (p.Leu409=) rs143954788
NM_001927.4(DES):c.1236G>A (p.Glu412=)
NM_001927.4(DES):c.123C>T (p.Gly41=) rs1575013025
NM_001927.4(DES):c.1244+12G>T
NM_001927.4(DES):c.1244+13G>A
NM_001927.4(DES):c.1244+17G>A
NM_001927.4(DES):c.1244+17G>C rs750992468
NM_001927.4(DES):c.1244+20C>T rs1205670028
NM_001927.4(DES):c.1244+8G>A
NM_001927.4(DES):c.1245-11T>C
NM_001927.4(DES):c.1245-14C>T
NM_001927.4(DES):c.1245-6T>C
NM_001927.4(DES):c.1245-7C>G
NM_001927.4(DES):c.1260C>T (p.Ile420=) rs397516688
NM_001927.4(DES):c.1266C>A (p.Thr422=) rs1954487738
NM_001927.4(DES):c.1269C>T (p.Tyr423=) rs765867148
NM_001927.4(DES):c.1281C>T (p.Asn427=) rs17853018
NM_001927.4(DES):c.1288+11G>A rs2125170600
NM_001927.4(DES):c.1288+14G>A
NM_001927.4(DES):c.1289-10C>T
NM_001927.4(DES):c.1289-11C>A
NM_001927.4(DES):c.1289-11C>T
NM_001927.4(DES):c.1289-15T>C
NM_001927.4(DES):c.1289-17G>A
NM_001927.4(DES):c.1289-19G>A
NM_001927.4(DES):c.1289-19G>T rs2125171911
NM_001927.4(DES):c.1289-9C>T
NM_001927.4(DES):c.1293C>T (p.Thr431=) rs2125171932
NM_001927.4(DES):c.12C>G (p.Ala4=) rs762566962
NM_001927.4(DES):c.1317G>A (p.Glu439=) rs1575016807
NM_001927.4(DES):c.1335G>T (p.Thr445=)
NM_001927.4(DES):c.1350C>G (p.Thr450=)
NM_001927.4(DES):c.1353C>A (p.Ile451=)
NM_001927.4(DES):c.1356G>A (p.Glu452=)
NM_001927.4(DES):c.1359A>C (p.Thr453=) rs1397831288
NM_001927.4(DES):c.1359A>T (p.Thr453=)
NM_001927.4(DES):c.135C>G (p.Ser45=)
NM_001927.4(DES):c.1368G>A (p.Gly456=) rs962437326
NM_001927.4(DES):c.1371+13T>G rs2125172082
NM_001927.4(DES):c.1372-15T>A rs202245617
NM_001927.4(DES):c.1372-3dup rs876657769
NM_001927.4(DES):c.1372-6C>T
NM_001927.4(DES):c.1372-7T>C rs889499879
NM_001927.4(DES):c.1372-8C>T rs794727968
NM_001927.4(DES):c.1374C>T (p.Val458=) rs727502952
NM_001927.4(DES):c.1383G>A (p.Glu461=) rs2125172248
NM_001927.4(DES):c.1386C>T (p.Ala462=)
NM_001927.4(DES):c.138C>A (p.Ser46=)
NM_001927.4(DES):c.1404A>G (p.Glu468=) rs397516691
NM_001927.4(DES):c.156C>T (p.Arg52=)
NM_001927.4(DES):c.171G>T (p.Ser57=)
NM_001927.4(DES):c.186G>T (p.Gly62=) rs1276880158
NM_001927.4(DES):c.195C>T (p.Gly65=) rs1256584430
NM_001927.4(DES):c.198G>C (p.Leu66=)
NM_001927.4(DES):c.204G>A (p.Ser68=)
NM_001927.4(DES):c.205C>T (p.Leu69=) rs2125166013
NM_001927.4(DES):c.210G>A (p.Arg70=) rs761255472
NM_001927.4(DES):c.210G>C (p.Arg70=) rs761255472
NM_001927.4(DES):c.213C>T (p.Ala71=)
NM_001927.4(DES):c.219G>A (p.Arg73=)
NM_001927.4(DES):c.228C>G (p.Thr76=) rs780233346
NM_001927.4(DES):c.228C>T (p.Thr76=)
NM_001927.4(DES):c.240C>T (p.Pro80=)
NM_001927.4(DES):c.246C>G (p.Ser82=)
NM_001927.4(DES):c.249C>T (p.Tyr83=) rs2125166116
NM_001927.4(DES):c.252C>T (p.Gly84=)
NM_001927.4(DES):c.258C>A (p.Gly86=) rs994454109
NM_001927.4(DES):c.258C>T (p.Gly86=) rs994454109
NM_001927.4(DES):c.264G>C (p.Leu88=)
NM_001927.4(DES):c.285C>T (p.Asp95=) rs562875165
NM_001927.4(DES):c.294C>T (p.Asn98=)
NM_001927.4(DES):c.306G>A (p.Leu102=) rs2125166197
NM_001927.4(DES):c.309C>T (p.Thr103=)
NM_001927.4(DES):c.30C>T (p.Arg10=) rs886042179
NM_001927.4(DES):c.312G>T (p.Thr104=)
NM_001927.4(DES):c.339G>A (p.Gln113=)
NM_001927.4(DES):c.345C>G (p.Leu115=)
NM_001927.4(DES):c.354C>G (p.Arg118=)
NM_001927.4(DES):c.360C>T (p.Ala120=) rs1553603246
NM_001927.4(DES):c.36C>T (p.Ser12=)
NM_001927.4(DES):c.399C>T (p.Asn133=)
NM_001927.4(DES):c.404C>T (p.Ala135Val) rs546741834
NM_001927.4(DES):c.405G>A (p.Ala135=) rs1344076921
NM_001927.4(DES):c.408C>A (p.Leu136=) rs111828114
NM_001927.4(DES):c.411C>T (p.Ala137=) rs549278754
NM_001927.4(DES):c.423C>T (p.Asn141=) rs1954375978
NM_001927.4(DES):c.435C>T (p.Gly145=)
NM_001927.4(DES):c.438C>T (p.Arg146=)
NM_001927.4(DES):c.444G>A (p.Pro148=) rs767505861
NM_001927.4(DES):c.447G>C (p.Thr149=) rs1575013396
NM_001927.4(DES):c.456C>G (p.Ala152=)
NM_001927.4(DES):c.456C>T (p.Ala152=)
NM_001927.4(DES):c.45C>T (p.Arg15=) rs1575012917
NM_001927.4(DES):c.462C>T (p.Leu154=)
NM_001927.4(DES):c.465C>T (p.Tyr155=) rs1458306248
NM_001927.4(DES):c.477G>A (p.Leu159=) rs1423370718
NM_001927.4(DES):c.480G>A (p.Arg160=)
NM_001927.4(DES):c.486G>A (p.Leu162=)
NM_001927.4(DES):c.519C>A (p.Arg173=) rs758686466
NM_001927.4(DES):c.522G>A (p.Ala174=)
NM_001927.4(DES):c.525C>A (p.Arg175=) rs1477068739
NM_001927.4(DES):c.528C>G (p.Val176=) rs1057522906
NM_001927.4(DES):c.528C>T (p.Val176=) rs1057522906
NM_001927.4(DES):c.540C>G (p.Arg180=)
NM_001927.4(DES):c.543C>T (p.Asp181=) rs1954382613
NM_001927.4(DES):c.567G>A (p.Arg189=)
NM_001927.4(DES):c.570C>G (p.Leu190=)
NM_001927.4(DES):c.578+10C>A
NM_001927.4(DES):c.578+10C>T rs969392028
NM_001927.4(DES):c.579-15G>C
NM_001927.4(DES):c.579-5C>A rs886042889
NM_001927.4(DES):c.591G>A (p.Glu197=) rs1440985603
NM_001927.4(DES):c.594T>C (p.Ile198=)
NM_001927.4(DES):c.600G>A (p.Leu200=) rs1575014014
NM_001927.4(DES):c.615G>A (p.Glu205=) rs1295010624
NM_001927.4(DES):c.622T>C (p.Leu208=) rs764389526
NM_001927.4(DES):c.639+10C>T
NM_001927.4(DES):c.639+13_639+15del rs876657448
NM_001927.4(DES):c.639+16T>C
NM_001927.4(DES):c.639+17T>G rs1954407967
NM_001927.4(DES):c.640-14T>C
NM_001927.4(DES):c.640-15C>A
NM_001927.4(DES):c.640-9C>T
NM_001927.4(DES):c.648T>C (p.Asp216=)
NM_001927.4(DES):c.678G>A (p.Glu226=)
NM_001927.4(DES):c.681C>G (p.Arg227=)
NM_001927.4(DES):c.681C>T (p.Arg227=)
NM_001927.4(DES):c.696C>T (p.Leu232=) rs2125167618
NM_001927.4(DES):c.702G>A (p.Glu234=)
NM_001927.4(DES):c.705G>A (p.Glu235=) rs370836572
NM_001927.4(DES):c.711G>A (p.Ala237=) rs757102249
NM_001927.4(DES):c.720G>A (p.Lys240=)
NM_001927.4(DES):c.729T>C (p.His243=) rs949090924
NM_001927.4(DES):c.735+10G>A rs774435644
NM_001927.4(DES):c.735+10G>T rs774435644
NM_001927.4(DES):c.735+11G>A rs1559352868
NM_001927.4(DES):c.735+15C>T
NM_001927.4(DES):c.735+8T>C
NM_001927.4(DES):c.735+9T>C
NM_001927.4(DES):c.736-12C>G
NM_001927.4(DES):c.736-8C>T
NM_001927.4(DES):c.736-9G>A rs1553603433
NM_001927.4(DES):c.75A>T (p.Pro25=) rs1318299
NM_001927.4(DES):c.762T>A (p.Leu254=)
NM_001927.4(DES):c.768A>G (p.Glu256=) rs886044420
NM_001927.4(DES):c.78C>G (p.Leu26=) rs1252527107
NM_001927.4(DES):c.807C>T (p.Asp269=)
NM_001927.4(DES):c.834G>C (p.Arg278=)
NM_001927.4(DES):c.840G>A (p.Gln280=) rs1954420895
NM_001927.4(DES):c.852C>T (p.Ile284=)
NM_001927.4(DES):c.858T>C (p.Ala286=) rs2125167964
NM_001927.4(DES):c.876T>C (p.Ala292=)
NM_001927.4(DES):c.87G>T (p.Pro29=) rs2125165803
NM_001927.4(DES):c.88C>T (p.Leu30=)
NM_001927.4(DES):c.891G>A (p.Lys297=)
NM_001927.4(DES):c.897+10C>T rs2125168018
NM_001927.4(DES):c.897+11del
NM_001927.4(DES):c.897+13G>T
NM_001927.4(DES):c.897+15C>T
NM_001927.4(DES):c.897+16C>A
NM_001927.4(DES):c.897+17G>T
NM_001927.4(DES):c.897+19_897+20del
NM_001927.4(DES):c.897+20G>A
NM_001927.4(DES):c.897+4_897+5del rs397516699
NM_001927.4(DES):c.897+8G>T rs1057520465
NM_001927.4(DES):c.898-13T>C
NM_001927.4(DES):c.898-16C>T rs1490911520
NM_001927.4(DES):c.898-17C>T
NM_001927.4(DES):c.898-18C>T rs1954425409
NM_001927.4(DES):c.898-19C>A
NM_001927.4(DES):c.898-19C>T
NM_001927.4(DES):c.898-20G>T
NM_001927.4(DES):c.898-6C>T rs2125168127
NM_001927.4(DES):c.898-7C>A
NM_001927.4(DES):c.912C>A (p.Thr304=) rs778826152
NM_001927.4(DES):c.939C>T (p.Ala313=) rs1060504848
NM_001927.4(DES):c.975A>G (p.Arg325=) rs1575014604
NM_001927.4(DES):c.978C>T (p.His326=)
NM_001927.4(DES):c.987G>A (p.Gln329=)
NM_001927.4(DES):c.999C>T (p.Cys333=) rs1157722667
NM_001927.4(DES):c.9G>A (p.Gln3=)

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