ClinVar Miner

List of variants reported as likely benign for autosomal recessive limb-girdle muscular dystrophy type 2D

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 313
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000023.4(SGCA):c.329G>A (p.Arg110Gln) rs145697858 0.00087
NM_000023.4(SGCA):c.843C>A (p.Ala281=) rs149487996 0.00080
NM_000023.4(SGCA):c.366G>A (p.Leu122=) rs147739328 0.00075
NM_000023.4(SGCA):c.421C>A (p.Arg141Ser) rs35130237 0.00056
NM_000023.4(SGCA):c.690G>C (p.Leu230=) rs139454982 0.00049
NM_000023.4(SGCA):c.1047C>T (p.Ala349=) rs199518562 0.00038
NM_000023.4(SGCA):c.189C>T (p.His63=) rs373770886 0.00030
NM_000023.4(SGCA):c.984-10G>A rs369385261 0.00026
NM_000023.4(SGCA):c.680C>G (p.Pro227Arg) rs201131924 0.00024
NM_000023.4(SGCA):c.37+10G>T rs200626376 0.00019
NM_000023.4(SGCA):c.328C>T (p.Arg110Trp) rs200137051 0.00013
NM_000023.4(SGCA):c.408C>T (p.Ala136=) rs143551687 0.00013
NM_000023.4(SGCA):c.819G>T (p.Pro273=) rs35972733 0.00013
NM_000023.4(SGCA):c.981C>T (p.Ser327=) rs368522117 0.00013
NM_000023.4(SGCA):c.320C>T (p.Ala107Val) rs186669379 0.00010
NM_000023.4(SGCA):c.816C>G (p.Asp272Glu) rs530646204 0.00010
NM_000023.4(SGCA):c.764C>T (p.Pro255Leu) rs138019537 0.00009
NM_000023.4(SGCA):c.62C>T (p.Thr21Ile) rs199804735 0.00006
NM_000023.4(SGCA):c.648C>T (p.Pro216=) rs758813493 0.00006
NM_000023.4(SGCA):c.657C>T (p.His219=) rs747684069 0.00006
NM_000023.4(SGCA):c.957-6C>T rs1406175539 0.00006
NM_000023.4(SGCA):c.313-10C>T rs569744194 0.00005
NM_000023.4(SGCA):c.585-33A>C rs1451479850 0.00005
NM_000023.4(SGCA):c.699C>T (p.Tyr233=) rs201860673 0.00005
NM_000023.4(SGCA):c.789C>A (p.Thr263=) rs769688229 0.00005
NM_000023.4(SGCA):c.978C>T (p.Thr326=) rs747187312 0.00005
NM_000023.4(SGCA):c.1053C>T (p.Arg351=) rs148373921 0.00004
NM_000023.4(SGCA):c.1155C>T (p.Asp385=) rs183964744 0.00004
NM_000023.4(SGCA):c.158-12C>T rs377120535 0.00004
NM_000023.4(SGCA):c.270C>T (p.Tyr90=) rs749205073 0.00004
NM_000023.4(SGCA):c.584+17A>G rs371673068 0.00004
NM_000023.4(SGCA):c.765G>A (p.Pro255=) rs376216559 0.00004
NM_000023.4(SGCA):c.90A>G (p.Pro30=) rs754840688 0.00004
NM_000023.4(SGCA):c.157+7G>A rs965018395 0.00003
NM_000023.4(SGCA):c.158-4C>A rs776411719 0.00003
NM_000023.4(SGCA):c.34G>A (p.Val12Met) rs766209304 0.00003
NM_000023.4(SGCA):c.522C>T (p.Asn174=) rs148960833 0.00003
NM_000023.4(SGCA):c.37+8G>A rs754950929 0.00002
NM_000023.4(SGCA):c.402C>T (p.Tyr134=) rs780264754 0.00002
NM_000023.4(SGCA):c.445C>T (p.Leu149=) rs1197751622 0.00002
NM_000023.4(SGCA):c.546G>A (p.Gly182=) rs765026954 0.00002
NM_000023.4(SGCA):c.584+13C>A rs565224729 0.00002
NM_000023.4(SGCA):c.1011C>T (p.Ile337=) rs1209145667 0.00001
NM_000023.4(SGCA):c.1014C>T (p.His338=) rs1273697097 0.00001
NM_000023.4(SGCA):c.1035G>A (p.Arg345=) rs374989747 0.00001
NM_000023.4(SGCA):c.1083C>T (p.Pro361=) rs763883513 0.00001
NM_000023.4(SGCA):c.108T>C (p.Phe36=) rs755416307 0.00001
NM_000023.4(SGCA):c.1104T>C (p.Gly368=) rs778379427 0.00001
NM_000023.4(SGCA):c.1128C>T (p.Asp376=) rs748132102 0.00001
NM_000023.4(SGCA):c.1131C>T (p.Ser377=) rs769951787 0.00001
NM_000023.4(SGCA):c.132G>A (p.Thr44=) rs886044035 0.00001
NM_000023.4(SGCA):c.147T>C (p.Pro49=) rs745447270 0.00001
NM_000023.4(SGCA):c.177C>T (p.His59=) rs199902950 0.00001
NM_000023.4(SGCA):c.312+19A>C rs527959287 0.00001
NM_000023.4(SGCA):c.313-5C>T rs200973744 0.00001
NM_000023.4(SGCA):c.354G>A (p.Gln118=) rs772233387 0.00001
NM_000023.4(SGCA):c.37+17T>A rs1231057453 0.00001
NM_000023.4(SGCA):c.38-7C>T rs769272010 0.00001
NM_000023.4(SGCA):c.38-8C>T rs908186145 0.00001
NM_000023.4(SGCA):c.429C>T (p.His143=) rs763446303 0.00001
NM_000023.4(SGCA):c.432T>C (p.Asp144=) rs774960107 0.00001
NM_000023.4(SGCA):c.435G>A (p.Ala145=) rs763694408 0.00001
NM_000023.4(SGCA):c.471C>T (p.Phe157=) rs758384359 0.00001
NM_000023.4(SGCA):c.501C>T (p.Pro167=) rs754962516 0.00001
NM_000023.4(SGCA):c.543T>A (p.Arg181=) rs776214016 0.00001
NM_000023.4(SGCA):c.549C>T (p.Gly183=) rs1300286751 0.00001
NM_000023.4(SGCA):c.555C>A (p.Val185=) rs201518390 0.00001
NM_000023.4(SGCA):c.584+10C>T rs937459293 0.00001
NM_000023.4(SGCA):c.584+16T>C rs1054945327 0.00001
NM_000023.4(SGCA):c.591C>T (p.Tyr197=) rs756137267 0.00001
NM_000023.4(SGCA):c.600G>A (p.Val200=) rs764188161 0.00001
NM_000023.4(SGCA):c.63C>T (p.Thr21=) rs775361706 0.00001
NM_000023.4(SGCA):c.705C>T (p.Thr235=) rs1291296598 0.00001
NM_000023.4(SGCA):c.711A>C (p.Ala237=) rs1207297075 0.00001
NM_000023.4(SGCA):c.72G>A (p.Gln24=) rs1904984718 0.00001
NM_000023.4(SGCA):c.748-5T>G rs1905249571 0.00001
NM_000023.4(SGCA):c.80C>T (p.Thr27Met) rs565069721 0.00001
NM_000023.4(SGCA):c.849C>T (p.Asp283=) rs764545490 0.00001
NM_000023.4(SGCA):c.864G>C (p.Val288=) rs1244830971 0.00001
NM_000023.4(SGCA):c.87C>T (p.His29=) rs757371081 0.00001
NM_000023.4(SGCA):c.894G>C (p.Leu298=) rs182535883 0.00001
NM_000023.4(SGCA):c.956+21C>T rs367690233 0.00001
NM_000023.4(SGCA):c.956+8T>C rs538839531 0.00001
NM_000023.4(SGCA):c.996C>A (p.Val332=) rs777162824 0.00001
NM_000023.4(SGCA):c.1011C>A (p.Ile337=) rs1209145667
NM_000023.4(SGCA):c.1033C>A (p.Arg345=)
NM_000023.4(SGCA):c.1044G>A (p.Ala348=) rs768722155
NM_000023.4(SGCA):c.1044G>T (p.Ala348=)
NM_000023.4(SGCA):c.1047C>G (p.Ala349=) rs199518562
NM_000023.4(SGCA):c.1062C>G (p.Pro354=) rs1905845398
NM_000023.4(SGCA):c.1062C>T (p.Pro354=) rs1905845398
NM_000023.4(SGCA):c.1068A>G (p.Pro356=)
NM_000023.4(SGCA):c.1071C>T (p.Leu357=)
NM_000023.4(SGCA):c.1074C>T (p.Ser358=)
NM_000023.4(SGCA):c.1078C>T (p.Leu360=)
NM_000023.4(SGCA):c.1080G>A (p.Leu360=)
NM_000023.4(SGCA):c.1092T>C (p.Asn364=)
NM_000023.4(SGCA):c.1098C>T (p.His366=) rs2144512069
NM_000023.4(SGCA):c.1108C>A (p.Arg370=) rs368243053
NM_000023.4(SGCA):c.1119C>T (p.Pro373=) rs1905853639
NM_000023.4(SGCA):c.1122C>T (p.Arg374=) rs2144512151
NM_000023.4(SGCA):c.1125G>A (p.Val375=) rs2144512161
NM_000023.4(SGCA):c.1134C>A (p.Ala378=) rs1235150688
NM_000023.4(SGCA):c.1146C>T (p.Leu382=) rs1263910576
NM_000023.4(SGCA):c.1163G>A (p.Ter388=) rs2144512285
NM_000023.4(SGCA):c.118T>C (p.Leu40=) rs1598264597
NM_000023.4(SGCA):c.129G>A (p.Glu43=) rs2144493407
NM_000023.4(SGCA):c.132G>C (p.Thr44=)
NM_000023.4(SGCA):c.132G>T (p.Thr44=)
NM_000023.4(SGCA):c.138G>A (p.Leu46=)
NM_000023.4(SGCA):c.141C>T (p.Ser47=) rs1336059898
NM_000023.4(SGCA):c.157+15A>C
NM_000023.4(SGCA):c.157+16G>C
NM_000023.4(SGCA):c.157+20C>A
NM_000023.4(SGCA):c.158-10C>G rs746675022
NM_000023.4(SGCA):c.158-11G>T
NM_000023.4(SGCA):c.158-7C>T rs2144493874
NM_000023.4(SGCA):c.168C>T (p.Pro56=) rs1193836259
NM_000023.4(SGCA):c.171T>C (p.Ala57=) rs2144493974
NM_000023.4(SGCA):c.174C>T (p.Val58=) rs1167800537
NM_000023.4(SGCA):c.183C>T (p.Thr61=) rs2144494064
NM_000023.4(SGCA):c.18C>T (p.Phe6=) rs2144488335
NM_000023.4(SGCA):c.195C>T (p.His65=)
NM_000023.4(SGCA):c.231C>A (p.Arg77=) rs1395463052
NM_000023.4(SGCA):c.234C>T (p.Tyr78=) rs1567739328
NM_000023.4(SGCA):c.237C>G (p.Thr79=)
NM_000023.4(SGCA):c.240G>A (p.Gln80=)
NM_000023.4(SGCA):c.243C>T (p.Arg81=)
NM_000023.4(SGCA):c.246C>T (p.Ser82=) rs1598265282
NM_000023.4(SGCA):c.285A>G (p.Pro95=)
NM_000023.4(SGCA):c.291T>C (p.Asp97=)
NM_000023.4(SGCA):c.300C>G (p.Leu100=)
NM_000023.4(SGCA):c.30C>G (p.Leu10=)
NM_000023.4(SGCA):c.312+10G>A rs1905041121
NM_000023.4(SGCA):c.312+16del
NM_000023.4(SGCA):c.312+18G>A
NM_000023.4(SGCA):c.312+8dup
NM_000023.4(SGCA):c.313-17T>G
NM_000023.4(SGCA):c.313-18G>A
NM_000023.4(SGCA):c.313-18G>T
NM_000023.4(SGCA):c.313-19T>G
NM_000023.4(SGCA):c.313-4C>T rs2144495185
NM_000023.4(SGCA):c.313-5C>G
NM_000023.4(SGCA):c.315C>G (p.Val105=)
NM_000023.4(SGCA):c.321C>T (p.Ala107=)
NM_000023.4(SGCA):c.330G>A (p.Arg110=) rs2144495293
NM_000023.4(SGCA):c.33C>T (p.Leu11=) rs762704751
NM_000023.4(SGCA):c.342T>C (p.Asp114=)
NM_000023.4(SGCA):c.351G>A (p.Arg117=) rs2144495376
NM_000023.4(SGCA):c.363G>A (p.Val121=)
NM_000023.4(SGCA):c.366G>C (p.Leu122=)
NM_000023.4(SGCA):c.37+11G>A
NM_000023.4(SGCA):c.37+20A>G
NM_000023.4(SGCA):c.37+9G>T rs2144488503
NM_000023.4(SGCA):c.38-10G>A rs2144492975
NM_000023.4(SGCA):c.38-14T>C
NM_000023.4(SGCA):c.38-14del
NM_000023.4(SGCA):c.385+10G>A
NM_000023.4(SGCA):c.385+11C>T
NM_000023.4(SGCA):c.385+15G>A
NM_000023.4(SGCA):c.385+16C>T
NM_000023.4(SGCA):c.385+17C>T
NM_000023.4(SGCA):c.385+7C>G rs2144495517
NM_000023.4(SGCA):c.385+8T>C rs1905072495
NM_000023.4(SGCA):c.386-13C>T
NM_000023.4(SGCA):c.386-17C>T
NM_000023.4(SGCA):c.386-18T>A
NM_000023.4(SGCA):c.386-19G>A
NM_000023.4(SGCA):c.386-8C>G
NM_000023.4(SGCA):c.386-9C>G
NM_000023.4(SGCA):c.386-9C>T rs1905100056
NM_000023.4(SGCA):c.390C>G (p.Pro130=) rs932963471
NM_000023.4(SGCA):c.390C>T (p.Pro130=) rs932963471
NM_000023.4(SGCA):c.393G>A (p.Leu131=)
NM_000023.4(SGCA):c.393G>C (p.Leu131=) rs758472374
NM_000023.4(SGCA):c.408C>G (p.Ala136=) rs143551687
NM_000023.4(SGCA):c.417G>T (p.Leu139=) rs375282807
NM_000023.4(SGCA):c.423C>T (p.Arg141=) rs2144496522
NM_000023.4(SGCA):c.438G>A (p.Glu146=) rs1336182341
NM_000023.4(SGCA):c.441G>A (p.Glu147=) rs1211942968
NM_000023.4(SGCA):c.444G>A (p.Val148=) rs1598267119
NM_000023.4(SGCA):c.453A>G (p.Ser151=)
NM_000023.4(SGCA):c.45G>C (p.Leu15=) rs2144493029
NM_000023.4(SGCA):c.462C>A (p.Ala154=)
NM_000023.4(SGCA):c.468C>G (p.Arg156=)
NM_000023.4(SGCA):c.468C>T (p.Arg156=) rs750297310
NM_000023.4(SGCA):c.474C>G (p.Leu158=) rs2144496728
NM_000023.4(SGCA):c.480C>G (p.Ala160=) rs2144496738
NM_000023.4(SGCA):c.480C>T (p.Ala160=) rs2144496738
NM_000023.4(SGCA):c.481T>C (p.Leu161=)
NM_000023.4(SGCA):c.486G>A (p.Gly162=) rs1598267271
NM_000023.4(SGCA):c.489A>G (p.Gly163=) rs1198477143
NM_000023.4(SGCA):c.489A>T (p.Gly163=)
NM_000023.4(SGCA):c.498G>A (p.Glu166=) rs1598267318
NM_000023.4(SGCA):c.49G>A (p.Gly17Arg) rs573792379
NM_000023.4(SGCA):c.516G>C (p.Leu172=) rs2144496890
NM_000023.4(SGCA):c.519C>T (p.Leu173=) rs1905118125
NM_000023.4(SGCA):c.525C>A (p.Val175=) rs1169044148
NM_000023.4(SGCA):c.535T>C (p.Leu179=)
NM_000023.4(SGCA):c.57G>A (p.Gly19=) rs2144493078
NM_000023.4(SGCA):c.584+10C>A
NM_000023.4(SGCA):c.584+10C>G rs937459293
NM_000023.4(SGCA):c.584+11A>C
NM_000023.4(SGCA):c.584+18G>A
NM_000023.4(SGCA):c.584+19A>C
NM_000023.4(SGCA):c.584+20G>A
NM_000023.4(SGCA):c.584+9G>A
NM_000023.4(SGCA):c.585-12A>G
NM_000023.4(SGCA):c.585-23C>T
NM_000023.4(SGCA):c.585-27C>T
NM_000023.4(SGCA):c.585-27del
NM_000023.4(SGCA):c.585-28G>A
NM_000023.4(SGCA):c.585-29T>G
NM_000023.4(SGCA):c.585-30C>G
NM_000023.4(SGCA):c.585-32C>A
NM_000023.4(SGCA):c.585-33A>G
NM_000023.4(SGCA):c.585-5_585-4delinsTG rs2144498044
NM_000023.4(SGCA):c.594T>C (p.Ile198=) rs2144498108
NM_000023.4(SGCA):c.597G>A (p.Lys199=) rs1304471544
NM_000023.4(SGCA):c.603T>C (p.Gly201=)
NM_000023.4(SGCA):c.615T>G (p.Pro205=)
NM_000023.4(SGCA):c.627C>T (p.Cys209=)
NM_000023.4(SGCA):c.633G>A (p.Lys211=) rs2144498199
NM_000023.4(SGCA):c.645C>G (p.Ser215=)
NM_000023.4(SGCA):c.651T>C (p.Asp217=) rs2144498247
NM_000023.4(SGCA):c.669C>T (p.Ala223=)
NM_000023.4(SGCA):c.675C>T (p.Gly225=) rs773985328
NM_000023.4(SGCA):c.678G>A (p.Gln226=) rs2144498364
NM_000023.4(SGCA):c.681T>C (p.Pro227=) rs1305502363
NM_000023.4(SGCA):c.690G>A (p.Leu230=) rs139454982
NM_000023.4(SGCA):c.706T>C (p.Leu236=)
NM_000023.4(SGCA):c.714C>G (p.Pro238=) rs2144498471
NM_000023.4(SGCA):c.717C>T (p.His239=) rs2144498480
NM_000023.4(SGCA):c.723C>T (p.Arg241=) rs750636856
NM_000023.4(SGCA):c.747+13C>G
NM_000023.4(SGCA):c.747+14C>A
NM_000023.4(SGCA):c.747+17G>A
NM_000023.4(SGCA):c.747+19T>C
NM_000023.4(SGCA):c.747+20C>T
NM_000023.4(SGCA):c.747+9G>A rs1598268788
NM_000023.4(SGCA):c.748-19C>T
NM_000023.4(SGCA):c.748-6G>A
NM_000023.4(SGCA):c.748-7T>C
NM_000023.4(SGCA):c.762G>A (p.Val254=) rs2144500656
NM_000023.4(SGCA):c.768G>A (p.Glu256=) rs2144500681
NM_000023.4(SGCA):c.771T>G (p.Pro257=)
NM_000023.4(SGCA):c.780G>A (p.Glu260=)
NM_000023.4(SGCA):c.783G>C (p.Val261=) rs1905254161
NM_000023.4(SGCA):c.786C>T (p.Pro262=) rs780981677
NM_000023.4(SGCA):c.789C>G (p.Thr263=) rs769688229
NM_000023.4(SGCA):c.804C>T (p.Ile268=) rs1905257217
NM_000023.4(SGCA):c.805C>T (p.Leu269=)
NM_000023.4(SGCA):c.813T>C (p.His271=)
NM_000023.4(SGCA):c.819G>A (p.Pro273=) rs35972733
NM_000023.4(SGCA):c.81G>A (p.Thr27=) rs2144493184
NM_000023.4(SGCA):c.825C>T (p.Phe275=) rs1363461236
NM_000023.4(SGCA):c.828C>T (p.Cys276=) rs2144500924
NM_000023.4(SGCA):c.82C>T (p.Leu28=) rs753896716
NM_000023.4(SGCA):c.837T>C (p.Thr279=) rs775773189
NM_000023.4(SGCA):c.867T>C (p.Asp289=) rs751156929
NM_000023.4(SGCA):c.879C>A (p.Thr293=) rs1209538410
NM_000023.4(SGCA):c.882C>G (p.Leu294=) rs886044216
NM_000023.4(SGCA):c.883C>T (p.Leu295=) rs777523838
NM_000023.4(SGCA):c.903C>T (p.Ala301=)
NM_000023.4(SGCA):c.904C>T (p.Leu302=) rs373603128
NM_000023.4(SGCA):c.906G>C (p.Leu302=)
NM_000023.4(SGCA):c.90A>C (p.Pro30=) rs754840688
NM_000023.4(SGCA):c.912C>T (p.Leu304=) rs965941711
NM_000023.4(SGCA):c.915C>A (p.Thr305=)
NM_000023.4(SGCA):c.915C>G (p.Thr305=)
NM_000023.4(SGCA):c.922C>T (p.Leu308=)
NM_000023.4(SGCA):c.927C>T (p.Ala309=)
NM_000023.4(SGCA):c.939C>T (p.Cys313=) rs2144501264
NM_000023.4(SGCA):c.93T>G (p.Leu31=) rs1000827324
NM_000023.4(SGCA):c.945G>A (p.Arg315=)
NM_000023.4(SGCA):c.948G>A (p.Arg316=) rs758785065
NM_000023.4(SGCA):c.956+13A>C
NM_000023.4(SGCA):c.956+13A>G
NM_000023.4(SGCA):c.956+14T>C
NM_000023.4(SGCA):c.956+18G>A
NM_000023.4(SGCA):c.956+19G>A
NM_000023.4(SGCA):c.956+9G>A
NM_000023.4(SGCA):c.957-12A>G
NM_000023.4(SGCA):c.957-12A>T
NM_000023.4(SGCA):c.957-16C>T
NM_000023.4(SGCA):c.957-17C>T
NM_000023.4(SGCA):c.957-19C>T
NM_000023.4(SGCA):c.957-5C>T
NM_000023.4(SGCA):c.957-6C>G
NM_000023.4(SGCA):c.957-8T>G
NM_000023.4(SGCA):c.958C>T (p.Leu320=) rs1905303889
NM_000023.4(SGCA):c.966A>G (p.Arg322=)
NM_000023.4(SGCA):c.970C>T (p.Leu324=)
NM_000023.4(SGCA):c.975T>A (p.Ala325=) rs2144502104
NM_000023.4(SGCA):c.983+10G>A
NM_000023.4(SGCA):c.983+10G>C rs2144502163
NM_000023.4(SGCA):c.983+11G>A
NM_000023.4(SGCA):c.983+16C>A
NM_000023.4(SGCA):c.983+16_983+17insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAGGAAAGC
NM_000023.4(SGCA):c.983+18G>A
NM_000023.4(SGCA):c.983+19G>A rs1231515934
NM_000023.4(SGCA):c.983+19G>C
NM_000023.4(SGCA):c.983+20G>A
NM_000023.4(SGCA):c.984-11T>G
NM_000023.4(SGCA):c.984-12C>T
NM_000023.4(SGCA):c.984-15C>G
NM_000023.4(SGCA):c.984-20C>T
NM_000023.4(SGCA):c.984-6C>T
NM_000023.4(SGCA):c.984-8G>T
NM_000023.4(SGCA):c.990G>A (p.Gln330=) rs755619226
NM_000023.4(SGCA):c.996C>T (p.Val332=) rs777162824
NM_000023.4(SGCA):c.999C>T (p.His333=) rs1330191790
NM_000023.4(SGCA):c.99C>T (p.Gly33=) rs750582302

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