ClinVar Miner

List of variants in gene SGCD reported by Illumina Laboratory Services, Illumina

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 213
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000337.6(SGCD):c.*6717G>A rs1827368 0.90216
NM_000337.6(SGCD):c.84T>C (p.Tyr28=) rs1801193 0.39558
NM_000337.6(SGCD):c.*1527C>T rs284445 0.26081
NM_000337.6(SGCD):c.*3772dup rs397841758 0.20069
NM_000337.6(SGCD):c.*5863C>T rs11953631 0.15411
NM_000337.6(SGCD):c.*4395A>T rs10041876 0.15385
NM_000337.6(SGCD):c.*781G>C rs3857412 0.14424
NM_000337.6(SGCD):c.*1618T>C rs1389818 0.14033
NM_000337.6(SGCD):c.*4813T>C rs1845479 0.14018
NM_000337.6(SGCD):c.*4092A>G rs56389540 0.09897
NM_000337.6(SGCD):c.*5114C>T rs3913482 0.09173
NM_000337.6(SGCD):c.*7814C>T rs56233900 0.08817
NM_000337.6(SGCD):c.*3650G>T rs72803044 0.08674
NM_000337.6(SGCD):c.*1373A>G rs72803041 0.08567
NM_000337.6(SGCD):c.*2365T>C rs72803042 0.08564
NM_000337.6(SGCD):c.*360A>G rs72803040 0.08563
NM_000337.6(SGCD):c.*5990T>A rs72803047 0.08555
NM_000337.6(SGCD):c.*2712T>C rs56293630 0.08538
NM_000337.6(SGCD):c.*3962G>A rs56182215 0.08205
NM_000337.6(SGCD):c.*3687A>G rs72803046 0.08194
NM_000337.6(SGCD):c.*6665G>A rs61633788 0.07733
NM_000337.6(SGCD):c.*4166T>C rs55653598 0.06787
NM_000337.6(SGCD):c.*3413G>C rs72803043 0.06785
NM_000337.6(SGCD):c.*7300C>A rs72803048 0.06455
NM_000337.5(SGCD):c.-303A>T rs7725121 0.06375
NM_000337.6(SGCD):c.290G>A (p.Arg97Gln) rs45559835 0.04292
NM_000337.6(SGCD):c.*4498G>A rs73304958 0.03775
NM_000337.6(SGCD):c.*363C>T rs6886827 0.03518
NM_000337.6(SGCD):c.*7596A>G rs80115276 0.02244
NM_000337.6(SGCD):c.*4895G>A rs115905727 0.01801
NM_000337.6(SGCD):c.*6400C>T rs10065295 0.01333
NM_000337.6(SGCD):c.*3898C>T rs74717343 0.01308
NM_000337.6(SGCD):c.*4818G>A rs76466586 0.01301
NM_000337.6(SGCD):c.*2236T>C rs183838407 0.00964
NM_000337.6(SGCD):c.*7816G>A rs78589560 0.00921
NM_000337.5(SGCD):c.-179A>G rs77808502 0.00918
NM_000337.6(SGCD):c.*6875G>A rs74370429 0.00888
NM_000337.6(SGCD):c.*2697T>C rs146249602 0.00722
NM_000337.6(SGCD):c.*822C>T rs78615220 0.00715
NM_000337.6(SGCD):c.507G>A (p.Ala169=) rs10071079 0.00680
NM_000337.6(SGCD):c.294+8T>C rs11748588 0.00640
NM_000337.6(SGCD):c.*8071A>G rs73813790 0.00573
NM_000337.6(SGCD):c.*5877C>A rs117879283 0.00430
NM_000337.6(SGCD):c.*7866G>A rs115728448 0.00408
NM_000337.6(SGCD):c.*3292A>G rs148505840 0.00364
NM_000337.6(SGCD):c.*4638C>A rs187538595 0.00363
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.*7521G>A rs150418759 0.00300
NM_000337.6(SGCD):c.*6683T>C rs73304961 0.00297
NM_000337.6(SGCD):c.*1846_*1847dup rs527436848 0.00258
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.*5348T>C rs149021597 0.00232
NM_000337.6(SGCD):c.*1112G>A rs566338494 0.00205
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.*1578T>C rs572265056 0.00180
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.*6430G>A rs185162959 0.00120
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.*5226G>A rs552358256 0.00051
NM_000337.6(SGCD):c.*5591G>A rs746078886 0.00046
NM_000337.5(SGCD):c.-352T>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.*150G>T rs147791150 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.*5907T>C rs766068819 0.00019
NM_000337.6(SGCD):c.848A>G (p.Gln283Arg) rs397516338 0.00019
NM_000337.5(SGCD):c.-404G>A rs192662989 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.*1856A>T rs886060295 0.00013
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.*2139C>T rs889080445 0.00011
NM_000337.6(SGCD):c.*4303T>C rs554618416 0.00011
NM_000337.6(SGCD):c.*1037C>G rs902237767 0.00010
NM_000337.6(SGCD):c.*5467G>C rs749139391 0.00010
NM_000337.6(SGCD):c.*8380A>G rs556296196 0.00010
NM_000337.6(SGCD):c.-30G>A rs374043017 0.00010
NM_000337.6(SGCD):c.*535C>T rs578018465 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.*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.*317C>T rs886060288 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.15G>C (p.Glu5Asp) rs549319429 0.00004
NM_000337.5(SGCD):c.-135C>T rs886060284 0.00003
NM_000337.6(SGCD):c.*1171C>A rs528794571 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.716C>T (p.Ala239Val) rs377153196 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.*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
NM_000337.5(SGCD):c.-335T>G rs1471586918
NM_000337.5(SGCD):c.-372C>G rs7717393
NM_000337.5(SGCD):c.-412A>T rs7724969
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.*2814G>T 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.*5723del rs147634470
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.-94C>G rs13170573
NM_000337.6(SGCD):c.105G>C (p.Leu35=) rs193922392
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

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.