ClinVar Miner

List of variants reported as uncertain significance for autosomal recessive limb-girdle muscular dystrophy type 2E

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 155
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HGVS dbSNP gnomAD frequency
NM_000232.5(SGCB):c.943G>A (p.Gly315Arg) rs150395645 0.00041
NM_000232.5(SGCB):c.151C>T (p.Arg51Cys) rs144743676 0.00029
NM_000232.5(SGCB):c.496A>G (p.Ile166Val) rs138877636 0.00028
NM_000232.5(SGCB):c.794C>T (p.Thr265Ile) rs116214830 0.00025
NM_000232.5(SGCB):c.31C>G (p.Gln11Glu) rs752492870 0.00023
NM_000232.5(SGCB):c.*18C>G rs191486389 0.00016
NM_000232.5(SGCB):c.392G>A (p.Arg131Gln) rs201439705 0.00013
NM_000232.5(SGCB):c.188A>G (p.Asn63Ser) rs377071680 0.00011
NM_000232.5(SGCB):c.152G>A (p.Arg51His) rs143751283 0.00010
NM_000232.5(SGCB):c.97A>G (p.Asn33Asp) rs753684563 0.00009
NM_000232.5(SGCB):c.29A>G (p.Glu10Gly) rs1452778513 0.00006
NM_000232.5(SGCB):c.443A>G (p.Gln148Arg) rs201006370 0.00005
NM_000232.5(SGCB):c.841G>A (p.Asp281Asn) rs374923265 0.00005
NM_000232.5(SGCB):c.137C>T (p.Pro46Leu) rs148525453 0.00004
NM_000232.5(SGCB):c.715A>G (p.Ile239Val) rs868151547 0.00004
NM_000232.5(SGCB):c.785T>C (p.Met262Thr) rs201923065 0.00004
NM_000232.5(SGCB):c.838G>A (p.Gly280Ser) rs879945095 0.00004
NM_000232.5(SGCB):c.191T>C (p.Leu64Ser) rs747795143 0.00003
NM_000232.5(SGCB):c.667C>T (p.Arg223Cys) rs570232197 0.00003
NM_000232.5(SGCB):c.68G>A (p.Arg23His) rs746363403 0.00003
NM_000232.5(SGCB):c.752C>T (p.Ala251Val) rs146111013 0.00003
NM_000232.5(SGCB):c.14C>A (p.Ala5Glu) rs886158091 0.00002
NM_000232.5(SGCB):c.251T>C (p.Leu84Pro) rs138367908 0.00002
NM_000232.5(SGCB):c.355A>T (p.Ile119Phe) rs762412447 0.00002
NM_000232.5(SGCB):c.419A>G (p.Asn140Ser) rs775409967 0.00002
NM_000232.5(SGCB):c.551A>G (p.Tyr184Cys) rs1365923535 0.00002
NM_000232.5(SGCB):c.668G>A (p.Arg223His) rs754898211 0.00002
NM_000232.5(SGCB):c.835A>G (p.Ser279Gly) rs565410997 0.00002
NM_000232.5(SGCB):c.850C>T (p.Arg284Cys) rs545065102 0.00002
NM_000232.5(SGCB):c.124G>A (p.Ala42Thr) rs1363676745 0.00001
NM_000232.5(SGCB):c.140T>C (p.Ile47Thr) rs763102674 0.00001
NM_000232.5(SGCB):c.178A>G (p.Arg60Gly) rs1320144493 0.00001
NM_000232.5(SGCB):c.227C>A (p.Ala76Asp) rs562380026 0.00001
NM_000232.5(SGCB):c.244-20G>A rs534867504 0.00001
NM_000232.5(SGCB):c.244A>G (p.Ile82Val) rs143106297 0.00001
NM_000232.5(SGCB):c.265G>A (p.Val89Met) rs762652676 0.00001
NM_000232.5(SGCB):c.370A>G (p.Lys124Glu) rs760596229 0.00001
NM_000232.5(SGCB):c.429+5G>A rs794727477 0.00001
NM_000232.5(SGCB):c.455A>G (p.Lys152Arg) rs1009256568 0.00001
NM_000232.5(SGCB):c.499G>A (p.Gly167Ser) rs779516489 0.00001
NM_000232.5(SGCB):c.502A>G (p.Met168Val) rs754465904 0.00001
NM_000232.5(SGCB):c.504G>A (p.Met168Ile) rs768628837 0.00001
NM_000232.5(SGCB):c.544A>C (p.Thr182Pro) rs751427686 0.00001
NM_000232.5(SGCB):c.556A>G (p.Thr186Ala) rs1451834188 0.00001
NM_000232.5(SGCB):c.613A>T (p.Thr205Ser) rs202114068 0.00001
NM_000232.5(SGCB):c.622-7T>G rs745333182 0.00001
NM_000232.5(SGCB):c.67C>T (p.Arg23Cys) rs529566743 0.00001
NM_000232.5(SGCB):c.680G>A (p.Arg227His) rs762079028 0.00001
NM_000232.5(SGCB):c.716T>C (p.Ile239Thr) rs759966387 0.00001
NM_000232.5(SGCB):c.731G>A (p.Gly244Asp) rs570902880 0.00001
NM_000232.5(SGCB):c.736A>T (p.Asn246Tyr) rs747907287 0.00001
NM_000232.5(SGCB):c.740T>C (p.Met247Thr) rs1283480940 0.00001
NM_000232.5(SGCB):c.763A>G (p.Ile255Val) rs569029693 0.00001
NM_000232.5(SGCB):c.915G>A (p.Met305Ile) rs1408223045 0.00001
NM_000232.5(SGCB):c.940T>C (p.Cys314Arg) rs573919387 0.00001
NC_000004.11:g.(?_52890103)_(52904445_?)dup
NC_000004.11:g.(?_52890123)_(52904425_?)dup
NC_000004.11:g.(?_52899577)_(52899826_?)dup
NC_000004.11:g.(?_52899587)_(52899816_?)dup
NM_000232.5(SGCB):c.-12_8dup (p.Ala4fs) rs1207685911
NM_000232.5(SGCB):c.10G>C (p.Ala4Pro)
NM_000232.5(SGCB):c.110A>G (p.Asn37Ser) rs1156620837
NM_000232.5(SGCB):c.111C>T (p.Asn37=) rs2109376000
NM_000232.5(SGCB):c.112A>C (p.Ser38Arg) rs1456517729
NM_000232.5(SGCB):c.11C>T (p.Ala4Val)
NM_000232.5(SGCB):c.121A>G (p.Lys41Glu)
NM_000232.5(SGCB):c.124_125insTTA (p.Ala42delinsValThr) rs1553940680
NM_000232.5(SGCB):c.12GGC[5] (p.Ala9dup) rs768838951
NM_000232.5(SGCB):c.12GGC[6] (p.Ala8_Ala9dup) rs768838951
NM_000232.5(SGCB):c.131A>G (p.Tyr44Cys)
NM_000232.5(SGCB):c.14C>T (p.Ala5Val) rs886158091
NM_000232.5(SGCB):c.166G>A (p.Gly56Arg)
NM_000232.5(SGCB):c.17C>T (p.Ala6Val) rs1414363052
NM_000232.5(SGCB):c.199T>C (p.Cys67Arg)
NM_000232.5(SGCB):c.19G>A (p.Ala7Thr)
NM_000232.5(SGCB):c.241A>G (p.Ile81Val) rs1560568792
NM_000232.5(SGCB):c.243+1548T>C
NM_000232.5(SGCB):c.243+3_243+6del rs1553940660
NM_000232.5(SGCB):c.244-3C>A rs2109372117
NM_000232.5(SGCB):c.26C>T (p.Ala9Val)
NM_000232.5(SGCB):c.278G>A (p.Gly93Glu)
NM_000232.5(SGCB):c.278G>C (p.Gly93Ala) rs1018529334
NM_000232.5(SGCB):c.288C>G (p.Gly96=) rs2109372010
NM_000232.5(SGCB):c.299T>A (p.Met100Lys) rs104893871
NM_000232.5(SGCB):c.32A>G (p.Gln11Arg) rs2109380807
NM_000232.5(SGCB):c.33+3C>G
NM_000232.5(SGCB):c.33+4T>C
NM_000232.5(SGCB):c.34-3T>G rs794727241
NM_000232.5(SGCB):c.343G>C (p.Asp115His) rs1560567700
NM_000232.5(SGCB):c.346A>G (p.Met116Val) rs752168132
NM_000232.5(SGCB):c.358C>T (p.His120Tyr)
NM_000232.5(SGCB):c.361C>A (p.Pro121Thr) rs764749125
NM_000232.5(SGCB):c.368A>C (p.Tyr123Ser) rs398123263
NM_000232.5(SGCB):c.373A>T (p.Ser125Cys)
NM_000232.5(SGCB):c.377C>T (p.Thr126Ile)
NM_000232.5(SGCB):c.379G>C (p.Val127Leu)
NM_000232.5(SGCB):c.396T>G (p.Asn132Lys)
NM_000232.5(SGCB):c.404T>G (p.Leu135Trp)
NM_000232.5(SGCB):c.413C>T (p.Thr138Ile)
NM_000232.5(SGCB):c.416G>A (p.Gly139Asp) rs1560567653
NM_000232.5(SGCB):c.429+2dup
NM_000232.5(SGCB):c.432T>G (p.Ile144Met)
NM_000232.5(SGCB):c.434T>C (p.Val145Ala) rs1446053409
NM_000232.5(SGCB):c.44A>G (p.Asn15Ser) rs1560568898
NM_000232.5(SGCB):c.460A>G (p.Ser154Gly)
NM_000232.5(SGCB):c.474C>G (p.Asn158Lys) rs1412020365
NM_000232.5(SGCB):c.475A>G (p.Lys159Glu) rs2109371081
NM_000232.5(SGCB):c.479C>T (p.Thr160Ile)
NM_000232.5(SGCB):c.491G>T (p.Ser164Ile)
NM_000232.5(SGCB):c.504_505delinsAG (p.Met168_Gln169delinsIleGlu) rs2109371031
NM_000232.5(SGCB):c.524C>A (p.Thr175Asn)
NM_000232.5(SGCB):c.533T>C (p.Ile178Thr) rs943840432
NM_000232.5(SGCB):c.541_551del (p.Phe180_Ser181insTer)
NM_000232.5(SGCB):c.569A>G (p.His190Arg)
NM_000232.5(SGCB):c.572T>G (p.Leu191Trp)
NM_000232.5(SGCB):c.592T>G (p.Leu198Val)
NM_000232.5(SGCB):c.59A>C (p.Lys20Thr) rs2109376098
NM_000232.5(SGCB):c.602A>C (p.Gln201Pro) rs1560567321
NM_000232.5(SGCB):c.613A>C (p.Thr205Pro)
NM_000232.5(SGCB):c.626C>T (p.Thr209Ile) rs2109370086
NM_000232.5(SGCB):c.632A>G (p.Asn211Ser)
NM_000232.5(SGCB):c.644A>T (p.Asp215Val)
NM_000232.5(SGCB):c.64A>G (p.Met22Val)
NM_000232.5(SGCB):c.690A>C (p.Glu230Asp)
NM_000232.5(SGCB):c.691G>A (p.Gly231Ser)
NM_000232.5(SGCB):c.698T>C (p.Phe233Ser) rs1578125133
NM_000232.5(SGCB):c.707G>A (p.Gly236Asp) rs1553940073
NM_000232.5(SGCB):c.718G>A (p.Glu240Lys)
NM_000232.5(SGCB):c.725A>C (p.His242Pro) rs1553940064
NM_000232.5(SGCB):c.727A>G (p.Met243Val)
NM_000232.5(SGCB):c.729G>C (p.Met243Ile) rs2109369930
NM_000232.5(SGCB):c.753+5G>A rs936193061
NM_000232.5(SGCB):c.758A>G (p.Asn253Ser) rs886044225
NM_000232.5(SGCB):c.768C>G (p.Ile256Met)
NM_000232.5(SGCB):c.797C>T (p.Thr266Ile)
NM_000232.5(SGCB):c.800G>T (p.Arg267Leu) rs114778658
NM_000232.5(SGCB):c.819T>G (p.Ser273Arg)
NM_000232.5(SGCB):c.821G>A (p.Gly274Glu) rs2110209607
NM_000232.5(SGCB):c.827A>T (p.Gln276Leu) rs1737022947
NM_000232.5(SGCB):c.846G>C (p.Trp282Cys)
NM_000232.5(SGCB):c.857del (p.Lys286fs) rs1553939681
NM_000232.5(SGCB):c.859del (p.Leu287fs) rs1553939675
NM_000232.5(SGCB):c.863G>T (p.Cys288Phe)
NM_000232.5(SGCB):c.87_89del (p.Arg30del) rs780654411
NM_000232.5(SGCB):c.881C>T (p.Thr294Met)
NM_000232.5(SGCB):c.892G>A (p.Val298Met) rs1560565822
NM_000232.5(SGCB):c.8C>A (p.Ala3Glu) rs1578130059
NM_000232.5(SGCB):c.901A>G (p.Thr301Ala) rs1578123128
NM_000232.5(SGCB):c.908A>G (p.Gln303Arg)
NM_000232.5(SGCB):c.90G>A (p.Arg30=) rs11541942
NM_000232.5(SGCB):c.929C>T (p.Ser310Leu) rs779083146
NM_000232.5(SGCB):c.947A>G (p.Asn316Ser)
NM_000232.5(SGCB):c.9_14dup (p.Ala8_Ala9dup) rs886044103
NM_000232.5(SGCB):c.9_17dup (p.Ala7_Ala9dup) rs1410190129
NM_000232.5(SGCB):c.9_23dup (p.Ala5_Ala9dup) rs781364428

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