ClinVar Miner

List of variants reported as uncertain significance for Qualitative or quantitative defects of delta-sarcoglycan by Illumina Laboratory Services, Illumina

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ClinVar version:
Total variants: 151
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HGVS dbSNP gnomAD frequency
NM_000337.6(SGCD):c.*3868C>A rs181847929 0.00353
NM_000337.6(SGCD):c.*6917C>T rs549743616 0.00346
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.*5663A>G rs151214419 0.00190
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.213G>A (p.Arg71=) rs74846539 0.00115
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
NC_000005.10:g.156326924T>C rs727503419 0.00043
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.510G>A (p.Glu170=) rs368838376 0.00029
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.*5337G>A rs144968734 0.00021
NM_000337.6(SGCD):c.*7231A>T rs766236284 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.*2720G>A rs571171698 0.00015
NM_000337.6(SGCD):c.123C>G (p.Leu41=) rs200670993 0.00015
NM_000337.6(SGCD):c.*1719G>A rs886060293 0.00014
NM_000337.6(SGCD):c.*173T>G rs766108625 0.00014
NM_000337.6(SGCD):c.*3779T>C rs886060302 0.00014
NM_000337.6(SGCD):c.*4389G>A rs751053103 0.00014
NM_000337.6(SGCD):c.*753C>T rs543082767 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.*2139C>T rs889080445 0.00011
NM_000337.6(SGCD):c.*4303T>C rs554618416 0.00011
NM_000337.6(SGCD):c.*5467G>C rs749139391 0.00011
NM_000337.6(SGCD):c.*1037C>G rs902237767 0.00010
NM_000337.6(SGCD):c.*535C>T rs578018465 0.00009
NM_000337.6(SGCD):c.-30G>A rs374043017 0.00009
NM_000337.6(SGCD):c.717G>A (p.Ala239=) rs145430692 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.*317C>T rs886060288 0.00007
NM_000337.6(SGCD):c.*3961C>T rs886060304 0.00007
NM_000337.6(SGCD):c.*5054G>A rs886060307 0.00007
NM_000337.6(SGCD):c.*6564T>C rs578061606 0.00007
NM_000337.6(SGCD):c.*1990C>T rs558206035 0.00006
NM_000337.6(SGCD):c.*6016G>A rs764539028 0.00006
NM_000337.6(SGCD):c.*8112A>C rs986061219 0.00006
NM_000337.6(SGCD):c.*8346G>A rs538399990 0.00006
NM_000337.6(SGCD):c.-44+11G>A rs184722381 0.00006
NM_000337.6(SGCD):c.*5415G>C rs191378692 0.00005
NM_000337.6(SGCD):c.*5739A>T rs555808506 0.00005
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.*8239C>G rs1021833438 0.00004
NM_000337.6(SGCD):c.*906C>T rs886060292 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.*2476A>G rs545021763 0.00003
NM_000337.6(SGCD):c.*3580G>A rs1214313359 0.00003
NM_000337.6(SGCD):c.*3656G>T rs886060301 0.00003
NM_000337.6(SGCD):c.3+14G>A rs538229806 0.00003
NM_000337.6(SGCD):c.*148G>A rs886060287 0.00002
NM_000337.6(SGCD):c.*4696G>A rs989697468 0.00002
NM_000337.6(SGCD):c.*5197T>C rs374076830 0.00002
NM_000337.6(SGCD):c.*5749C>T rs886060310 0.00002
NM_000337.6(SGCD):c.*7877A>T rs192658071 0.00002
NM_000337.6(SGCD):c.*1171C>A rs528794571 0.00001
NM_000337.6(SGCD):c.*1283C>T rs1042239351 0.00001
NM_000337.6(SGCD):c.*2152T>C rs1204262458 0.00001
NM_000337.6(SGCD):c.*2166A>T rs576632739 0.00001
NM_000337.6(SGCD):c.*2521T>G rs551160585 0.00001
NM_000337.6(SGCD):c.*4451G>C rs898347744 0.00001
NM_000337.6(SGCD):c.*5819G>T rs962759358 0.00001
NM_000337.6(SGCD):c.*6636G>A rs1223114581 0.00001
NM_000337.6(SGCD):c.*6785C>T rs886060318 0.00001
NM_000337.6(SGCD):c.*7022G>A rs1213494022 0.00001
NM_000337.6(SGCD):c.*7815G>A rs886060323 0.00001
NM_000337.6(SGCD):c.*7871G>C rs549398788 0.00001
NM_000337.6(SGCD):c.*8041T>C rs1007305443 0.00001
NM_000337.6(SGCD):c.*8351C>T rs1757619931 0.00001
NM_000337.6(SGCD):c.475G>A (p.Val159Ile) rs370327314 0.00001
NC_000005.10:g.156326864A>T rs7724969
NC_000005.10:g.156326904C>G rs7717393
NM_000337.5(SGCD):c.-335T>G rs1471586918
NM_000337.6(SGCD):c.*1358A>C rs953331624
NM_000337.6(SGCD):c.*1788G>A rs1757492574
NM_000337.6(SGCD):c.*1871G>A rs542185593
NM_000337.6(SGCD):c.*1877G>T rs1284592965
NM_000337.6(SGCD):c.*1888G>A rs1757494680
NM_000337.6(SGCD):c.*1906C>G rs540017785
NM_000337.6(SGCD):c.*1907G>A rs75063526
NM_000337.6(SGCD):c.*2004G>T rs757935944
NM_000337.6(SGCD):c.*2089T>G rs1757498477
NM_000337.6(SGCD):c.*2316G>A rs886060296
NM_000337.6(SGCD):c.*2813C>A rs886060297
NM_000337.6(SGCD):c.*2814G>A rs142023087
NM_000337.6(SGCD):c.*2944G>C rs1581544764
NM_000337.6(SGCD):c.*3361T>C rs886060298
NM_000337.6(SGCD):c.*3420C>T rs886060299
NM_000337.6(SGCD):c.*3491G>A rs886060300
NM_000337.6(SGCD):c.*3918_*3921dup rs886060303
NM_000337.6(SGCD):c.*4089C>A rs886060305
NM_000337.6(SGCD):c.*4340_*4341dup rs556887176
NM_000337.6(SGCD):c.*4341dup rs556887176
NM_000337.6(SGCD):c.*4559C>A rs554101371
NM_000337.6(SGCD):c.*4786G>A rs1561903272
NM_000337.6(SGCD):c.*4935C>T rs1029399512
NM_000337.6(SGCD):c.*4972A>C rs1757549475
NM_000337.6(SGCD):c.*5061C>G rs886060308
NM_000337.6(SGCD):c.*5201T>C rs532318823
NM_000337.6(SGCD):c.*557A>C rs886060289
NM_000337.6(SGCD):c.*560C>T rs886060290
NM_000337.6(SGCD):c.*561T>C rs1757470064
NM_000337.6(SGCD):c.*5928G>T rs886060311
NM_000337.6(SGCD):c.*6045A>G rs886060312
NM_000337.6(SGCD):c.*6064A>G rs1757571242
NM_000337.6(SGCD):c.*6133A>G rs905643117
NM_000337.6(SGCD):c.*6223T>A rs886060313
NM_000337.6(SGCD):c.*6261T>A rs1757574286
NM_000337.6(SGCD):c.*6497dup rs886060314
NM_000337.6(SGCD):c.*6504T>C rs1464873195
NM_000337.6(SGCD):c.*6518C>T rs1165157961
NM_000337.6(SGCD):c.*6547G>A rs1757579301
NM_000337.6(SGCD):c.*6644del rs886060315
NM_000337.6(SGCD):c.*6660del rs57240389
NM_000337.6(SGCD):c.*6660dup rs57240389
NM_000337.6(SGCD):c.*6661del rs886060317
NM_000337.6(SGCD):c.*6664C>T rs1010222786
NM_000337.6(SGCD):c.*6985C>T rs1757587976
NM_000337.6(SGCD):c.*7196A>T rs886060319
NM_000337.6(SGCD):c.*7219G>C rs886060320
NM_000337.6(SGCD):c.*7489G>A rs886060322
NM_000337.6(SGCD):c.*7506C>G rs778555167
NM_000337.6(SGCD):c.*767A>T rs886060291
NM_000337.6(SGCD):c.*8113_*8114dup rs397736317
NM_000337.6(SGCD):c.*8114dup rs397736317
NM_000337.6(SGCD):c.*817A>C rs1757474795
NM_000337.6(SGCD):c.*8239C>T rs1021833438
NM_000337.6(SGCD):c.*8355C>T rs886060324
NM_000337.6(SGCD):c.*882G>A rs1581543101
NM_000337.6(SGCD):c.*944C>G rs1757477686
NM_000337.6(SGCD):c.193-10T>A rs886060285
NM_000337.6(SGCD):c.209T>C (p.Leu70Pro) rs1756805264
NM_000337.6(SGCD):c.383-14T>C rs886060286
NM_000337.6(SGCD):c.661T>A (p.Cys221Ser) rs1561899947
NM_000337.6(SGCD):c.699+15G>A rs1440648894
NM_000337.6(SGCD):c.832G>A (p.Ala278Thr) rs753240054

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