ClinVar Miner

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

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ClinVar version:
Total variants: 196
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HGVS dbSNP gnomAD frequency
NM_000337.6(SGCD):c.*158G>A rs187465743 0.00253
NM_000337.6(SGCD):c.*8110A>C rs796540027 0.00245
NM_000337.6(SGCD):c.*2604T>C rs541571525 0.00187
NM_000337.6(SGCD):c.*3845T>C rs528838126 0.00145
NM_000337.6(SGCD):c.*6065A>G rs183129118 0.00130
NM_000337.6(SGCD):c.*8356T>A rs576236693 0.00096
NM_000337.6(SGCD):c.*4993A>C rs62382385 0.00084
NM_000337.6(SGCD):c.*4608G>A rs541428502 0.00057
NM_000337.6(SGCD):c.*6833G>A rs137998497 0.00056
NM_000337.6(SGCD):c.*5907T>C rs766068819 0.00053
NM_000337.6(SGCD):c.*5591G>A rs746078886 0.00046
NM_000337.6(SGCD):c.*440G>A rs535200914 0.00038
NM_000337.6(SGCD):c.*6186C>T rs559185520 0.00030
NM_000337.6(SGCD):c.*7559G>C rs751653849 0.00028
NM_000337.6(SGCD):c.*2797A>T rs771116351 0.00027
NM_000337.6(SGCD):c.3+3G>C rs573109924 0.00023
NM_000337.6(SGCD):c.*5337G>A rs144968734 0.00021
NM_000337.6(SGCD):c.*7231A>T rs766236284 0.00020
NM_000337.6(SGCD):c.494G>A (p.Arg165Gln) rs727503423 0.00020
NM_000337.6(SGCD):c.*1856A>T rs886060295 0.00016
NM_000337.6(SGCD):c.92G>A (p.Arg31Gln) rs200476861 0.00016
NM_000337.6(SGCD):c.*1719G>A rs886060293 0.00014
NM_000337.6(SGCD):c.*3779T>C rs886060302 0.00014
NM_000337.6(SGCD):c.*753C>T rs543082767 0.00013
NM_000337.6(SGCD):c.755C>T (p.Thr252Met) rs199520526 0.00013
NM_000337.6(SGCD):c.*6127G>A rs527412372 0.00012
NM_000337.6(SGCD):c.*8380A>G rs556296196 0.00012
NM_000337.6(SGCD):c.451T>G (p.Ser151Ala) rs121909298 0.00012
NM_000337.6(SGCD):c.*2139C>T rs889080445 0.00011
NM_000337.6(SGCD):c.*5467G>C rs749139391 0.00011
NM_000337.6(SGCD):c.191T>C (p.Ile64Thr) rs376780156 0.00011
NM_000337.6(SGCD):c.394G>A (p.Val132Ile) rs367819390 0.00010
NM_000337.6(SGCD):c.793G>A (p.Val265Ile) rs772185467 0.00010
NM_000337.6(SGCD):c.160A>G (p.Ile54Val) rs200671745 0.00009
NM_000337.6(SGCD):c.*1047C>T rs999149586 0.00008
NM_000337.6(SGCD):c.*7298A>C rs886060321 0.00008
NM_000337.6(SGCD):c.*7507A>G rs75641902 0.00008
NM_000337.6(SGCD):c.-59G>A rs375477247 0.00008
NM_000337.6(SGCD):c.566A>G (p.Lys189Arg) rs538002169 0.00008
NM_000337.6(SGCD):c.*1990C>T rs558206035 0.00006
NM_000337.6(SGCD):c.*5884A>G rs760303963 0.00005
NM_000337.6(SGCD):c.*7566C>T rs913397406 0.00004
NM_000337.6(SGCD):c.*906C>T rs886060292 0.00004
NM_000337.6(SGCD):c.292C>T (p.Pro98Ser) rs1437006739 0.00004
NM_000337.6(SGCD):c.511G>A (p.Gly171Ser) rs764237334 0.00004
NM_000337.6(SGCD):c.716C>T (p.Ala239Val) rs377153196 0.00004
NM_000337.5(SGCD):c.-135C>T rs886060284 0.00003
NM_000337.6(SGCD):c.*3580G>A rs1214313359 0.00003
NM_000337.6(SGCD):c.-43-1G>A rs767016855 0.00003
NM_000337.6(SGCD):c.458A>G (p.Asp153Gly) rs752000538 0.00003
NM_000337.6(SGCD):c.593G>A (p.Arg198Gln) rs750459196 0.00003
NM_000337.6(SGCD):c.697G>A (p.Glu233Lys) rs768979513 0.00003
NM_000337.6(SGCD):c.699+72A>C rs376317697 0.00003
NM_000337.6(SGCD):c.731C>T (p.Pro244Leu) rs375159661 0.00003
NM_000337.6(SGCD):c.767C>T (p.Thr256Met) rs578056399 0.00003
NM_000337.6(SGCD):c.*5749C>T rs886060310 0.00002
NM_000337.6(SGCD):c.1A>G (p.Met1Val) rs756367674 0.00002
NM_000337.6(SGCD):c.294+3A>G rs766462865 0.00002
NM_000337.6(SGCD):c.298A>C (p.Asn100His) rs1436273126 0.00002
NM_000337.6(SGCD):c.3+2T>A rs753979573 0.00002
NM_000337.6(SGCD):c.32G>A (p.Arg11Gln) rs752548592 0.00002
NM_000337.6(SGCD):c.401C>T (p.Ala134Val) rs776098396 0.00002
NM_000337.6(SGCD):c.575+6C>T rs886044432 0.00002
NM_000337.6(SGCD):c.749C>T (p.Ser250Phe) rs781628137 0.00002
NM_000337.6(SGCD):c.91C>T (p.Arg31Trp) rs202223676 0.00002
NM_000337.6(SGCD):c.98G>A (p.Arg33Gln) rs1488623227 0.00002
NM_000337.6(SGCD):c.*5819G>T rs962759358 0.00001
NM_000337.6(SGCD):c.190A>G (p.Ile64Val) rs753808210 0.00001
NM_000337.6(SGCD):c.194A>G (p.Asp65Gly) rs769883857 0.00001
NM_000337.6(SGCD):c.19T>C (p.Tyr7His) rs1561633494 0.00001
NM_000337.6(SGCD):c.296G>A (p.Gly99Asp) rs955284985 0.00001
NM_000337.6(SGCD):c.31C>T (p.Arg11Trp) rs566181541 0.00001
NM_000337.6(SGCD):c.340A>G (p.Ile114Val) rs760206240 0.00001
NM_000337.6(SGCD):c.352C>A (p.Gln118Lys) rs748107425 0.00001
NM_000337.6(SGCD):c.354G>T (p.Gln118His) rs770930747 0.00001
NM_000337.6(SGCD):c.359A>C (p.Lys120Thr) rs1385323214 0.00001
NM_000337.6(SGCD):c.35G>A (p.Ser12Asn) rs1449665448 0.00001
NM_000337.6(SGCD):c.421G>T (p.Val141Leu) rs1382070084 0.00001
NM_000337.6(SGCD):c.434C>G (p.Ser145Cys) rs1324593212 0.00001
NM_000337.6(SGCD):c.461A>G (p.Asn154Ser) rs759767804 0.00001
NM_000337.6(SGCD):c.475G>A (p.Val159Ile) rs370327314 0.00001
NM_000337.6(SGCD):c.506C>T (p.Ala169Val) rs876658001 0.00001
NM_000337.6(SGCD):c.532A>G (p.Ile178Val) rs1200525320 0.00001
NM_000337.6(SGCD):c.547G>A (p.Val183Ile) rs751421543 0.00001
NM_000337.6(SGCD):c.559C>T (p.Pro187Ser) rs769250018 0.00001
NM_000337.6(SGCD):c.592C>T (p.Arg198Trp) rs561825515 0.00001
NM_000337.6(SGCD):c.632A>G (p.Asn211Ser) rs794727901 0.00001
NM_000337.6(SGCD):c.659C>T (p.Thr220Ile) rs1471128348 0.00001
NM_000337.6(SGCD):c.699+3G>A rs1757394496 0.00001
NM_000337.6(SGCD):c.715G>A (p.Ala239Thr) rs373871327 0.00001
NM_000337.6(SGCD):c.761C>A (p.Thr254Lys) rs372607729 0.00001
NM_000337.6(SGCD):c.799G>A (p.Ala267Thr) rs772799792 0.00001
NM_000337.6(SGCD):c.821C>T (p.Ser274Phe) rs768051118 0.00001
NC_000005.9:g.(?_155756567)_(155756609_?)dup
NC_000005.9:g.(?_155756587)_(155756609_?)del
NC_000005.9:g.(?_155756587)_(156186401_?)dup
NC_000005.9:g.(?_156184572)_(156186401_?)dup
NM_000337.6(SGCD):c.*1906C>G rs540017785
NM_000337.6(SGCD):c.*1907G>A rs75063526
NM_000337.6(SGCD):c.*2813C>A rs886060297
NM_000337.6(SGCD):c.*2814G>A rs142023087
NM_000337.6(SGCD):c.*4935C>T rs1029399512
NM_000337.6(SGCD):c.*6223T>A rs886060313
NM_000337.6(SGCD):c.*6518C>T rs1165157961
NM_000337.6(SGCD):c.*6660dup rs57240389
NM_000337.6(SGCD):c.*6664C>T rs1010222786
NM_000337.6(SGCD):c.-44+1_-44+2dup rs1554093294
NM_000337.6(SGCD):c.-44+2T>A rs1300537737
NM_000337.6(SGCD):c.101G>A (p.Cys34Tyr) rs757994622
NM_000337.6(SGCD):c.104T>C (p.Leu35Pro) rs1014551583
NM_000337.6(SGCD):c.112T>C (p.Phe38Leu)
NM_000337.6(SGCD):c.115G>C (p.Val39Leu)
NM_000337.6(SGCD):c.116T>C (p.Val39Ala) rs794729164
NM_000337.6(SGCD):c.121C>A (p.Leu41Ile) rs769047953
NM_000337.6(SGCD):c.127A>T (p.Met43Leu) rs2127716663
NM_000337.6(SGCD):c.130A>G (p.Ile44Val)
NM_000337.6(SGCD):c.131T>G (p.Ile44Ser) rs1419851820
NM_000337.6(SGCD):c.155T>C (p.Met52Thr) rs2127716699
NM_000337.6(SGCD):c.175G>T (p.Val59Phe) rs1274415049
NM_000337.6(SGCD):c.197G>C (p.Gly66Ala) rs1581095772
NM_000337.6(SGCD):c.242G>C (p.Gly81Ala) rs2127875419
NM_000337.6(SGCD):c.25C>T (p.His9Tyr) rs1320640424
NM_000337.6(SGCD):c.262C>T (p.Pro88Ser) rs1489575164
NM_000337.6(SGCD):c.265C>G (p.Leu89Val) rs754342073
NM_000337.6(SGCD):c.268T>A (p.Tyr90Asn) rs786205286
NM_000337.6(SGCD):c.271G>A (p.Ala91Thr)
NM_000337.6(SGCD):c.274A>C (p.Lys92Gln) rs1159364901
NM_000337.6(SGCD):c.285G>C (p.Gln95His) rs1421460814
NM_000337.6(SGCD):c.28C>T (p.His10Tyr) rs2127716448
NM_000337.6(SGCD):c.296G>T (p.Gly99Val) rs955284985
NM_000337.6(SGCD):c.298A>T (p.Asn100Tyr)
NM_000337.6(SGCD):c.3+1G>T rs777787493
NM_000337.6(SGCD):c.310T>C (p.Phe104Leu) rs989244785
NM_000337.6(SGCD):c.313_315del (p.Lys105del) rs1760622721
NM_000337.6(SGCD):c.315G>C (p.Lys105Asn) rs1760622985
NM_000337.6(SGCD):c.337A>C (p.Asn113His) rs1760624404
NM_000337.6(SGCD):c.354G>C (p.Gln118His) rs770930747
NM_000337.6(SGCD):c.356C>G (p.Thr119Ser) rs1581216333
NM_000337.6(SGCD):c.356C>T (p.Thr119Ile) rs1581216333
NM_000337.6(SGCD):c.358A>G (p.Lys120Glu) rs956992133
NM_000337.6(SGCD):c.373C>T (p.Leu125Phe)
NM_000337.6(SGCD):c.376A>G (p.Ile126Val)
NM_000337.6(SGCD):c.382+4A>G
NM_000337.6(SGCD):c.383-33CTCTCTAT[4] rs727504998
NM_000337.6(SGCD):c.383G>A (p.Gly128Asp)
NM_000337.6(SGCD):c.38C>T (p.Thr13Ile) rs1768840932
NM_000337.6(SGCD):c.397G>C (p.Glu133Gln) rs746717495
NM_000337.6(SGCD):c.40A>G (p.Met14Val)
NM_000337.6(SGCD):c.413A>G (p.Lys138Arg)
NM_000337.6(SGCD):c.413A>T (p.Lys138Ile) rs1760869370
NM_000337.6(SGCD):c.414A>T (p.Lys138Asn) rs1760869467
NM_000337.6(SGCD):c.415T>A (p.Phe139Ile) rs886044160
NM_000337.6(SGCD):c.41T>C (p.Met14Thr)
NM_000337.6(SGCD):c.437G>T (p.Gly146Val) rs1438925313
NM_000337.6(SGCD):c.446T>C (p.Leu149Pro)
NM_000337.6(SGCD):c.452C>T (p.Ser151Phe) rs766924806
NM_000337.6(SGCD):c.467A>G (p.Glu156Gly)
NM_000337.6(SGCD):c.469G>A (p.Val157Met) rs2113389554
NM_000337.6(SGCD):c.47G>A (p.Gly16Asp)
NM_000337.6(SGCD):c.481G>A (p.Ala161Thr) rs886043902
NM_000337.6(SGCD):c.488G>A (p.Arg163Lys)
NM_000337.6(SGCD):c.491T>C (p.Leu164Ser) rs2113389732
NM_000337.6(SGCD):c.503-9T>A
NM_000337.6(SGCD):c.534A>G (p.Ile178Met) rs1474496504
NM_000337.6(SGCD):c.538A>T (p.Thr180Ser) rs1187720404
NM_000337.6(SGCD):c.541C>T (p.Pro181Ser)
NM_000337.6(SGCD):c.56G>C (p.Gly19Ala)
NM_000337.6(SGCD):c.580_582dup (p.Glu194dup) rs2113176912
NM_000337.6(SGCD):c.586C>A (p.Pro196Thr) rs1757387093
NM_000337.6(SGCD):c.590C>G (p.Thr197Ser) rs1241850589
NM_000337.6(SGCD):c.616A>G (p.Lys206Glu) rs1327580871
NM_000337.6(SGCD):c.620G>A (p.Gly207Glu)
NM_000337.6(SGCD):c.622G>A (p.Val208Met)
NM_000337.6(SGCD):c.626A>C (p.Glu209Ala)
NM_000337.6(SGCD):c.631A>C (p.Asn211His) rs527801800
NM_000337.6(SGCD):c.649A>G (p.Met217Val) rs2113177878
NM_000337.6(SGCD):c.662G>A (p.Cys221Tyr) rs1561899959
NM_000337.6(SGCD):c.663C>A (p.Cys221Ter) rs1175344271
NM_000337.6(SGCD):c.683A>C (p.Glu228Ala) rs2113178162
NM_000337.6(SGCD):c.691G>A (p.Asp231Asn) rs2113178203
NM_000337.6(SGCD):c.735A>T (p.Arg245Ser)
NM_000337.6(SGCD):c.744T>G (p.His248Gln) rs1160680799
NM_000337.6(SGCD):c.760A>G (p.Thr254Ala)
NM_000337.6(SGCD):c.761C>T (p.Thr254Ile) rs372607729
NM_000337.6(SGCD):c.772C>T (p.Gln258Ter) rs1224803345
NM_000337.6(SGCD):c.775_777del (p.Lys259del) rs1207864818
NM_000337.6(SGCD):c.790T>C (p.Cys264Arg) rs2113186659
NM_000337.6(SGCD):c.792C>G (p.Cys264Trp) rs367616773
NM_000337.6(SGCD):c.793G>C (p.Val265Leu)
NM_000337.6(SGCD):c.798C>A (p.Cys266Ter) rs371850230
NM_000337.6(SGCD):c.815T>G (p.Phe272Cys)
NM_000337.6(SGCD):c.832G>T (p.Ala278Ser) rs753240054
NM_000337.6(SGCD):c.833C>G (p.Ala278Gly)
NM_000337.6(SGCD):c.835G>A (p.Gly279Arg)
NM_000337.6(SGCD):c.841A>G (p.Thr281Ala)
NM_000337.6(SGCD):c.865T>C (p.Cys289Arg)

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