ClinVar Miner

List of variants in gene SGCD reported as uncertain significance for Limb-Girdle Muscular Dystrophy, Recessive

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Gene type:
ClinVar version:
Total variants: 75
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HGVS dbSNP gnomAD frequency
NM_000337.6(SGCD):c.*7521G>A rs150418759 0.00300
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.*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.*5591G>A rs746078886 0.00046
NM_000337.5(SGCD):c.-352T>C rs727503419 0.00043
NM_000337.6(SGCD):c.*7559G>C rs751653849 0.00028
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.*1719G>A rs886060293 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.*4303T>C rs554618416 0.00011
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.*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.*317C>T rs886060288 0.00006
NM_000337.6(SGCD):c.*6016G>A rs764539028 0.00006
NM_000337.6(SGCD):c.*906C>T rs886060292 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.*3656G>T rs886060301 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.*5749C>T rs886060310 0.00002
NM_000337.6(SGCD):c.*6785C>T rs886060318 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.475G>A (p.Val159Ile) rs370327314 0.00001
NM_000337.6(SGCD):c.*1871G>A rs542185593
NM_000337.6(SGCD):c.*2316G>A rs886060296
NM_000337.6(SGCD):c.*2813C>A rs886060297
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.*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.*5928G>T rs886060311
NM_000337.6(SGCD):c.*6045A>G rs886060312
NM_000337.6(SGCD):c.*6223T>A rs886060313
NM_000337.6(SGCD):c.*6497dup rs886060314
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.*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.*8355C>T rs886060324
NM_000337.6(SGCD):c.193-10T>A rs886060285
NM_000337.6(SGCD):c.383-14T>C rs886060286

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