ClinVar Miner

List of variants in gene SGCD

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Gene type:
ClinVar version:
Total variants: 317
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HGVS dbSNP
NC_000005.9:g.(?_156184572)_(156186421_?)del
NM_000337.5(SGCD):c.*1112G>A rs566338494
NM_000337.5(SGCD):c.*1171C>A rs528794571
NM_000337.5(SGCD):c.*1373A>G rs72803041
NM_000337.5(SGCD):c.*148G>A rs886060287
NM_000337.5(SGCD):c.*150G>T rs147791150
NM_000337.5(SGCD):c.*1527C>T rs284445
NM_000337.5(SGCD):c.*158G>A rs187465743
NM_000337.5(SGCD):c.*1618T>C rs1389818
NM_000337.5(SGCD):c.*1719G>A rs886060293
NM_000337.5(SGCD):c.*1846_*1847dup rs527436848
NM_000337.5(SGCD):c.*1856A>T rs886060295
NM_000337.5(SGCD):c.*1871G>A rs542185593
NM_000337.5(SGCD):c.*2236T>C rs183838407
NM_000337.5(SGCD):c.*2316G>A rs886060296
NM_000337.5(SGCD):c.*2365T>C rs72803042
NM_000337.5(SGCD):c.*2604T>C rs541571525
NM_000337.5(SGCD):c.*2697T>C rs146249602
NM_000337.5(SGCD):c.*2712T>C rs56293630
NM_000337.5(SGCD):c.*2813C>A rs886060297
NM_000337.5(SGCD):c.*2814G>T rs142023087
NM_000337.5(SGCD):c.*2A>C rs200757725
NM_000337.5(SGCD):c.*317C>T rs886060288
NM_000337.5(SGCD):c.*3292A>G rs148505840
NM_000337.5(SGCD):c.*3361T>C rs886060298
NM_000337.5(SGCD):c.*3413G>C rs72803043
NM_000337.5(SGCD):c.*3420C>T rs886060299
NM_000337.5(SGCD):c.*3491G>A rs886060300
NM_000337.5(SGCD):c.*360A>G rs72803040
NM_000337.5(SGCD):c.*363C>T rs6886827
NM_000337.5(SGCD):c.*3650G>T rs72803044
NM_000337.5(SGCD):c.*3656G>T rs886060301
NM_000337.5(SGCD):c.*3687A>G rs72803046
NM_000337.5(SGCD):c.*3772dup rs397841758
NM_000337.5(SGCD):c.*3779T>C rs886060302
NM_000337.5(SGCD):c.*3845T>C rs528838126
NM_000337.5(SGCD):c.*3868C>A rs181847929
NM_000337.5(SGCD):c.*3898C>T rs74717343
NM_000337.5(SGCD):c.*3918_*3921dup rs886060303
NM_000337.5(SGCD):c.*3961C>T rs886060304
NM_000337.5(SGCD):c.*3962G>A rs56182215
NM_000337.5(SGCD):c.*4089C>A rs886060305
NM_000337.5(SGCD):c.*4092A>G rs56389540
NM_000337.5(SGCD):c.*4166T>C rs55653598
NM_000337.5(SGCD):c.*4303T>C rs554618416
NM_000337.5(SGCD):c.*4340_*4341dup rs556887176
NM_000337.5(SGCD):c.*4341dup rs556887176
NM_000337.5(SGCD):c.*4389G>A rs751053103
NM_000337.5(SGCD):c.*4395A>T rs10041876
NM_000337.5(SGCD):c.*4498G>A rs73304958
NM_000337.5(SGCD):c.*4559C>A rs554101371
NM_000337.5(SGCD):c.*4608G>A rs541428502
NM_000337.5(SGCD):c.*4638C>A rs187538595
NM_000337.5(SGCD):c.*4813T>C rs1845479
NM_000337.5(SGCD):c.*4818G>A rs76466586
NM_000337.5(SGCD):c.*4895G>A rs115905727
NM_000337.5(SGCD):c.*4993A>C rs62382385
NM_000337.5(SGCD):c.*4A>G rs144825977
NM_000337.5(SGCD):c.*5054G>A rs886060307
NM_000337.5(SGCD):c.*5061C>G rs886060308
NM_000337.5(SGCD):c.*5114C>T rs3913482
NM_000337.5(SGCD):c.*5201T>C rs532318823
NM_000337.5(SGCD):c.*5226G>A rs552358256
NM_000337.5(SGCD):c.*5337G>A rs144968734
NM_000337.5(SGCD):c.*5348T>C rs149021597
NM_000337.5(SGCD):c.*5467G>C rs749139391
NM_000337.5(SGCD):c.*557A>C rs886060289
NM_000337.5(SGCD):c.*5591G>A rs746078886
NM_000337.5(SGCD):c.*560C>T rs886060290
NM_000337.5(SGCD):c.*5663A>G rs151214419
NM_000337.5(SGCD):c.*5723del rs147634470
NM_000337.5(SGCD):c.*5749C>T rs886060310
NM_000337.5(SGCD):c.*5863C>T rs11953631
NM_000337.5(SGCD):c.*5877C>A rs117879283
NM_000337.5(SGCD):c.*5907T>C rs766068819
NM_000337.5(SGCD):c.*5928G>T rs886060311
NM_000337.5(SGCD):c.*5990T>A rs72803047
NM_000337.5(SGCD):c.*6016G>A rs764539028
NM_000337.5(SGCD):c.*6045A>G rs886060312
NM_000337.5(SGCD):c.*6065A>G rs183129118
NM_000337.5(SGCD):c.*6223T>A rs886060313
NM_000337.5(SGCD):c.*6400C>T rs10065295
NM_000337.5(SGCD):c.*6430G>A rs185162959
NM_000337.5(SGCD):c.*6497dup rs886060314
NM_000337.5(SGCD):c.*6564T>C rs578061606
NM_000337.5(SGCD):c.*6644del rs886060315
NM_000337.5(SGCD):c.*6660del rs57240389
NM_000337.5(SGCD):c.*6660dup rs57240389
NM_000337.5(SGCD):c.*6661del rs886060317
NM_000337.5(SGCD):c.*6665G>A rs61633788
NM_000337.5(SGCD):c.*6683T>C rs73304961
NM_000337.5(SGCD):c.*6717G>A rs1827368
NM_000337.5(SGCD):c.*6785C>T rs886060318
NM_000337.5(SGCD):c.*6833G>A rs137998497
NM_000337.5(SGCD):c.*6917C>T rs549743616
NM_000337.5(SGCD):c.*7196A>T rs886060319
NM_000337.5(SGCD):c.*7219G>C rs886060320
NM_000337.5(SGCD):c.*7231A>T rs766236284
NM_000337.5(SGCD):c.*7298A>C rs886060321
NM_000337.5(SGCD):c.*7300C>A rs72803048
NM_000337.5(SGCD):c.*7489G>A rs886060322
NM_000337.5(SGCD):c.*7506C>G rs778555167
NM_000337.5(SGCD):c.*7507A>G rs75641902
NM_000337.5(SGCD):c.*7521G>A rs150418759
NM_000337.5(SGCD):c.*753C>T rs543082767
NM_000337.5(SGCD):c.*7559G>C rs751653849
NM_000337.5(SGCD):c.*7596A>G rs80115276
NM_000337.5(SGCD):c.*767A>T rs886060291
NM_000337.5(SGCD):c.*7814C>T rs56233900
NM_000337.5(SGCD):c.*7815G>A rs886060323
NM_000337.5(SGCD):c.*7816G>A rs78589560
NM_000337.5(SGCD):c.*781G>C rs3857412
NM_000337.5(SGCD):c.*7866G>A rs115728448
NM_000337.5(SGCD):c.*7871G>C rs549398788
NM_000337.5(SGCD):c.*8110A>C rs796540027
NM_000337.5(SGCD):c.*8113_*8114dup rs397736317
NM_000337.5(SGCD):c.*8114dup rs397736317
NM_000337.5(SGCD):c.*822C>T rs78615220
NM_000337.5(SGCD):c.*8355C>T rs886060324
NM_000337.5(SGCD):c.*8380A>G rs556296196
NM_000337.5(SGCD):c.*906C>T rs886060292
NM_000337.5(SGCD):c.-135C>T rs886060284
NM_000337.5(SGCD):c.-139dup rs1554093270
NM_000337.5(SGCD):c.-13G>T rs1440354794
NM_000337.5(SGCD):c.-148_-122del rs727504478
NM_000337.5(SGCD):c.-179A>G rs77808502
NM_000337.5(SGCD):c.-303A>T rs7725121
NM_000337.5(SGCD):c.-30G>A rs374043017
NM_000337.5(SGCD):c.-352T>C rs727503419
NM_000337.5(SGCD):c.-372C>G rs7717393
NM_000337.5(SGCD):c.-378G>T rs531296131
NM_000337.5(SGCD):c.-404G>A rs192662989
NM_000337.5(SGCD):c.-412A>T rs7724969
NM_000337.5(SGCD):c.-41A>T rs369889635
NM_000337.5(SGCD):c.-43-130G>A
NM_000337.5(SGCD):c.-43-1G>A rs767016855
NM_000337.5(SGCD):c.-43-245A>G
NM_000337.5(SGCD):c.-44+11G>A rs184722381
NM_000337.5(SGCD):c.-44+11_-44+13del rs1554093300
NM_000337.5(SGCD):c.-44+1G>A rs959438136
NM_000337.5(SGCD):c.-44+1G>C rs959438136
NM_000337.5(SGCD):c.-44+1_-44+2dup rs1554093294
NM_000337.5(SGCD):c.-44+2T>A rs1300537737
NM_000337.5(SGCD):c.-44+2T>G rs1300537737
NM_000337.5(SGCD):c.-44G>T rs727503420
NM_000337.5(SGCD):c.-59G>A rs375477247
NM_000337.5(SGCD):c.-626_-616del rs149976574
NM_000337.5(SGCD):c.-80G>T rs1057522676
NM_000337.5(SGCD):c.-94C>G rs13170573
NM_000337.5(SGCD):c.101G>A (p.Cys34Tyr)
NM_000337.5(SGCD):c.105G>C (p.Leu35=) rs193922392
NM_000337.5(SGCD):c.116T>C (p.Val39Ala) rs794729164
NM_000337.5(SGCD):c.123C>G (p.Leu41=) rs200670993
NM_000337.5(SGCD):c.144G>C (p.Val48=) rs372152495
NM_000337.5(SGCD):c.15G>C (p.Glu5Asp) rs549319429
NM_000337.5(SGCD):c.160A>G (p.Ile54Val) rs200671745
NM_000337.5(SGCD):c.175G>T (p.Val59Phe) rs1274415049
NM_000337.5(SGCD):c.177C>T (p.Val59=) rs727505265
NM_000337.5(SGCD):c.191T>C (p.Ile64Thr) rs376780156
NM_000337.5(SGCD):c.192+121G>A
NM_000337.5(SGCD):c.192+192G>A
NM_000337.5(SGCD):c.192+1G>A rs1267810339
NM_000337.5(SGCD):c.192+4A>G rs750150347
NM_000337.5(SGCD):c.192+86A>G
NM_000337.5(SGCD):c.193-10T>A rs886060285
NM_000337.5(SGCD):c.193-12G>T rs727503421
NM_000337.5(SGCD):c.193-17T>G rs201079829
NM_000337.5(SGCD):c.193-7A>G rs747018859
NM_000337.5(SGCD):c.194A>G (p.Asp65Gly)
NM_000337.5(SGCD):c.197G>C (p.Gly66Ala)
NM_000337.5(SGCD):c.19T>C (p.Tyr7His) rs1561633494
NM_000337.5(SGCD):c.1A>G (p.Met1Val) rs756367674
NM_000337.5(SGCD):c.213G>A (p.Arg71=) rs74846539
NM_000337.5(SGCD):c.226G>T (p.Gly76Cys) rs376659221
NM_000337.5(SGCD):c.22A>G (p.Thr8Ala) rs1554094932
NM_000337.5(SGCD):c.242_244del (p.Gly81del) rs794729165
NM_000337.5(SGCD):c.249T>G (p.Ser83=) rs1348759871
NM_000337.5(SGCD):c.25C>T (p.His9Tyr)
NM_000337.5(SGCD):c.268T>A (p.Tyr90Asn) rs786205286
NM_000337.5(SGCD):c.270C>T (p.Tyr90=) rs749273088
NM_000337.5(SGCD):c.285G>C (p.Gln95His) rs1421460814
NM_000337.5(SGCD):c.290G>A (p.Arg97Gln) rs45559835
NM_000337.5(SGCD):c.294+15A>C rs377470284
NM_000337.5(SGCD):c.294+1G>A rs727503422
NM_000337.5(SGCD):c.294+279C>A
NM_000337.5(SGCD):c.294+8T>C rs11748588
NM_000337.5(SGCD):c.295-10C>T rs1334538970
NM_000337.5(SGCD):c.295-20C>A rs144250417
NM_000337.5(SGCD):c.295-286G>A
NM_000337.5(SGCD):c.295-40T>A rs74571343
NM_000337.5(SGCD):c.3+11C>T rs374790317
NM_000337.5(SGCD):c.3+14G>A rs538229806
NM_000337.5(SGCD):c.3+152C>T
NM_000337.5(SGCD):c.3+19C>T rs182715924
NM_000337.5(SGCD):c.3+1G>A rs777787493
NM_000337.5(SGCD):c.3+20G>A rs187786098
NM_000337.5(SGCD):c.3+248C>T
NM_000337.5(SGCD):c.3+2T>A rs753979573
NM_000337.5(SGCD):c.3+7A>G rs1561622931
NM_000337.5(SGCD):c.306G>A (p.Leu102=) rs1554119164
NM_000337.5(SGCD):c.32G>A (p.Arg11Gln) rs752548592
NM_000337.5(SGCD):c.333A>T (p.Thr111=) rs886042290
NM_000337.5(SGCD):c.340A>G (p.Ile114Val)
NM_000337.5(SGCD):c.352C>A (p.Gln118Lys)
NM_000337.5(SGCD):c.354G>T (p.Gln118His) rs770930747
NM_000337.5(SGCD):c.357T>C (p.Thr119=) rs886044132
NM_000337.5(SGCD):c.358A>G (p.Lys120Glu)
NM_000337.5(SGCD):c.359A>C (p.Lys120Thr) rs1385323214
NM_000337.5(SGCD):c.382+232T>A
NM_000337.5(SGCD):c.383-11A>T rs727504584
NM_000337.5(SGCD):c.383-14T>C rs886060286
NM_000337.5(SGCD):c.383-171A>G
NM_000337.5(SGCD):c.383-33CTCTCTAT[2] rs727504998
NM_000337.5(SGCD):c.383-33CTCTCTAT[4] rs727504998
NM_000337.5(SGCD):c.383-33_383-13del rs1554119747
NM_000337.5(SGCD):c.383-35_383-34insA rs1554119750
NM_000337.5(SGCD):c.383-47CTCTCTC[4] rs780744816
NM_000337.5(SGCD):c.390del (p.Ala131fs) rs397517921
NM_000337.5(SGCD):c.391G>C (p.Ala131Pro) rs267607045
NM_000337.5(SGCD):c.393C>T (p.Ala131=) rs397517922
NM_000337.5(SGCD):c.394G>A (p.Val132Ile) rs367819390
NM_000337.5(SGCD):c.4-121G>A
NM_000337.5(SGCD):c.4-12C>T rs727504580
NM_000337.5(SGCD):c.4-143A>G
NM_000337.5(SGCD):c.4-169A>C
NM_000337.5(SGCD):c.4-1G>A rs1554094927
NM_000337.5(SGCD):c.4-1G>T rs1554094927
NM_000337.5(SGCD):c.4-41G>T
NM_000337.5(SGCD):c.402T>C (p.Ala134=) rs190935424
NM_000337.5(SGCD):c.415T>A (p.Phe139Ile) rs886044160
NM_000337.5(SGCD):c.434C>G (p.Ser145Cys) rs1324593212
NM_000337.5(SGCD):c.437G>T (p.Gly146Val) rs1438925313
NM_000337.5(SGCD):c.443T>A (p.Leu148Ter) rs886043460
NM_000337.5(SGCD):c.451T>G (p.Ser151Ala) rs121909298
NM_000337.5(SGCD):c.458A>G (p.Asp153Gly) rs752000538
NM_000337.5(SGCD):c.45T>A (p.Pro15=) rs727505092
NM_000337.5(SGCD):c.461A>G (p.Asn154Ser) rs759767804
NM_000337.5(SGCD):c.475G>A (p.Val159Ile) rs370327314
NM_000337.5(SGCD):c.481G>A (p.Ala161Thr) rs886043902
NM_000337.5(SGCD):c.493C>T (p.Arg165Ter) rs121909295
NM_000337.5(SGCD):c.494G>A (p.Arg165Gln) rs727503423
NM_000337.5(SGCD):c.502+246G>C
NM_000337.5(SGCD):c.502+250G>T
NM_000337.5(SGCD):c.503-224T>G
NM_000337.5(SGCD):c.506C>T (p.Ala169Val) rs876658001
NM_000337.5(SGCD):c.507G>A (p.Ala169=) rs10071079
NM_000337.5(SGCD):c.510G>A (p.Glu170=) rs368838376
NM_000337.5(SGCD):c.516A>G (p.Thr172=) rs753952200
NM_000337.5(SGCD):c.543T>G (p.Pro181=) rs200451694
NM_000337.5(SGCD):c.547G>A (p.Val183Ile)
NM_000337.5(SGCD):c.54G>A (p.Val18=) rs756970013
NM_000337.5(SGCD):c.559C>T (p.Pro187Ser) rs769250018
NM_000337.5(SGCD):c.566A>G (p.Lys189Arg) rs538002169
NM_000337.5(SGCD):c.575+167A>C
NM_000337.5(SGCD):c.575+6C>T rs886044432
NM_000337.5(SGCD):c.576-14_576-10del rs1064794366
NM_000337.5(SGCD):c.576-15T>C rs918017706
NM_000337.5(SGCD):c.576-277T>C
NM_000337.5(SGCD):c.577T>C (p.Leu193=) rs776813977
NM_000337.5(SGCD):c.593G>A (p.Arg198Gln)
NM_000337.5(SGCD):c.594G>T (p.Arg198=) rs754875886
NM_000337.5(SGCD):c.618del (p.Gly207fs) rs1554137109
NM_000337.5(SGCD):c.632A>G (p.Asn211Ser) rs794727901
NM_000337.5(SGCD):c.642T>C (p.Ala214=)
NM_000337.5(SGCD):c.657del (p.Thr220fs)
NM_000337.5(SGCD):c.659C>T (p.Thr220Ile) rs1471128348
NM_000337.5(SGCD):c.65dup (p.Tyr23fs) rs886043031
NM_000337.5(SGCD):c.662G>A (p.Cys221Tyr) rs1561899959
NM_000337.5(SGCD):c.663C>A (p.Cys221Ter) rs1175344271
NM_000337.5(SGCD):c.697G>A (p.Glu233Lys) rs768979513
NM_000337.5(SGCD):c.699+18C>G rs180898690
NM_000337.5(SGCD):c.699+1G>T rs1554137130
NM_000337.5(SGCD):c.699+49C>G rs752646426
NM_000337.5(SGCD):c.699+71G>A rs187204080
NM_000337.5(SGCD):c.699+72A>C rs376317697
NM_000337.5(SGCD):c.699+76C>T
NM_000337.5(SGCD):c.699+77G>A rs200686844
NM_000337.5(SGCD):c.699+8del
NM_000337.5(SGCD):c.69C>A (p.Tyr23Ter) rs397517923
NM_000337.5(SGCD):c.69C>T (p.Tyr23=) rs397517923
NM_000337.5(SGCD):c.700-19T>C rs80086857
NM_000337.5(SGCD):c.714T>C (p.Ala238=) rs1554137275
NM_000337.5(SGCD):c.716C>T (p.Ala239Val) rs377153196
NM_000337.5(SGCD):c.717G>A (p.Ala239=) rs145430692
NM_000337.5(SGCD):c.731C>T (p.Pro244Leu) rs375159661
NM_000337.5(SGCD):c.734G>C (p.Arg245Thr) rs886042870
NM_000337.5(SGCD):c.744T>G (p.His248Gln) rs1160680799
NM_000337.5(SGCD):c.74_77dup (p.Ile27fs) rs1554094947
NM_000337.5(SGCD):c.755C>T (p.Thr252Met) rs199520526
NM_000337.5(SGCD):c.756G>A (p.Thr252=) rs756467431
NM_000337.5(SGCD):c.761C>T (p.Thr254Ile) rs372607729
NM_000337.5(SGCD):c.767C>T (p.Thr256Met) rs578056399
NM_000337.5(SGCD):c.768G>A (p.Thr256=) rs376141942
NM_000337.5(SGCD):c.772C>T (p.Gln258Ter) rs1224803345
NM_000337.5(SGCD):c.775_777del (p.Lys259del) rs1207864818
NM_000337.5(SGCD):c.784G>A (p.Glu262Lys) rs121909297
NM_000337.5(SGCD):c.786G>A (p.Glu262=) rs1197695649
NM_000337.5(SGCD):c.792C>T (p.Cys264=)
NM_000337.5(SGCD):c.793G>A (p.Val265Ile) rs772185467
NM_000337.5(SGCD):c.799G>A (p.Ala267Thr)
NM_000337.5(SGCD):c.817C>T (p.Leu273=) rs375029639
NM_000337.5(SGCD):c.821C>T (p.Ser274Phe)
NM_000337.5(SGCD):c.832G>A (p.Ala278Thr) rs753240054
NM_000337.5(SGCD):c.832G>T (p.Ala278Ser)
NM_000337.5(SGCD):c.839C>A (p.Ser280Tyr) rs397516337
NM_000337.5(SGCD):c.848A>G (p.Gln283Arg) rs397516338
NM_000337.5(SGCD):c.84T>C (p.Tyr28=) rs1801193
NM_000337.5(SGCD):c.89G>A (p.Trp30Ter) rs121909296
NM_000337.5(SGCD):c.89G>C (p.Trp30Ser) rs121909296
NM_000337.5(SGCD):c.8C>T (p.Pro3Leu) rs1554094928
NM_000337.5(SGCD):c.91C>G (p.Arg31Gly) rs202223676
NM_000337.5(SGCD):c.91C>T (p.Arg31Trp)
NM_000337.5(SGCD):c.92G>A (p.Arg31Gln) rs200476861
NM_000337.5(SGCD):c.98G>A (p.Arg33Gln) rs1488623227
NM_001128209.2(SGCD):c.696+13_696+15del rs397517924
SGCD, 3-BP DEL, 710AGA/711GAA
Single allele

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