ClinVar Miner

List of variants in gene SGCD studied for Delta-sarcoglycanopathy

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Gene type:
ClinVar version:
Total variants: 137
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HGVS dbSNP
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.*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.*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.-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.-404G>A rs192662989
NM_000337.5(SGCD):c.-94C>G rs13170573
NM_000337.5(SGCD):c.15G>C (p.Glu5Asp) rs549319429
NM_000337.5(SGCD):c.193-10T>A rs886060285
NM_000337.5(SGCD):c.213G>A (p.Arg71=) rs74846539
NM_000337.5(SGCD):c.290G>A (p.Arg97Gln) rs45559835
NM_000337.5(SGCD):c.294+8T>C rs11748588
NM_000337.5(SGCD):c.383-14T>C rs886060286
NM_000337.5(SGCD):c.475G>A (p.Val159Ile) rs370327314
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.716C>T (p.Ala239Val) rs377153196
NM_000337.5(SGCD):c.848A>G (p.Gln283Arg) rs397516338
NM_000337.5(SGCD):c.84T>C (p.Tyr28=) rs1801193

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