ClinVar Miner

List of variants in gene SGCD reported as likely benign by GeneDx

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Gene type:
ClinVar version:
Total variants: 51
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HGVS dbSNP gnomAD frequency
NM_000337.6(SGCD):c.502+246G>C rs138502989 0.02396
NM_000337.6(SGCD):c.193-98A>T rs540965569 0.01859
NM_000337.6(SGCD):c.193-125C>T rs115801951 0.01750
NM_000337.6(SGCD):c.4-169A>C rs76348482 0.01461
NM_000337.6(SGCD):c.3+152C>T rs149323169 0.01399
NM_000337.6(SGCD):c.*3898C>T rs74717343 0.01308
NM_000337.6(SGCD):c.576-277T>C rs76665508 0.01242
NM_000337.6(SGCD):c.294+134T>A rs115974476 0.00982
NM_000337.6(SGCD):c.193-138T>G rs114402473 0.00979
NM_000337.6(SGCD):c.502+250G>T rs114059396 0.00831
NM_000337.6(SGCD):c.382+67C>G rs115591356 0.00748
NM_000337.6(SGCD):c.294+120A>G rs114461470 0.00741
NM_000337.6(SGCD):c.4-41G>T rs200386436 0.00725
NM_000337.6(SGCD):c.192+121G>A rs114976142 0.00655
NM_000337.6(SGCD):c.543T>G (p.Pro181=) rs200451694 0.00041
NM_000337.6(SGCD):c.193-17T>G rs201079829 0.00027
NM_000337.6(SGCD):c.699+18C>G rs180898690 0.00019
NM_000337.6(SGCD):c.848A>G (p.Gln283Arg) rs397516338 0.00019
NM_000337.6(SGCD):c.817C>T (p.Leu273=) rs375029639 0.00016
NM_000337.6(SGCD):c.-30G>A rs374043017 0.00010
NM_000337.6(SGCD):c.3+11C>T rs374790317 0.00010
NM_000337.6(SGCD):c.717G>A (p.Ala239=) rs145430692 0.00009
NM_000337.6(SGCD):c.*4A>G rs144825977 0.00007
NM_000337.6(SGCD):c.-44+11G>A rs184722381 0.00006
NM_000337.6(SGCD):c.69C>T (p.Tyr23=) rs397517923 0.00006
NM_000337.6(SGCD):c.15G>C (p.Glu5Asp) rs549319429 0.00004
NM_000337.6(SGCD):c.393C>T (p.Ala131=) rs397517922 0.00004
NM_000337.6(SGCD):c.756G>A (p.Thr252=) rs756467431 0.00004
NM_000337.6(SGCD):c.294+15A>C rs377470284 0.00003
NM_000337.6(SGCD):c.3+14G>A rs538229806 0.00003
NM_000337.6(SGCD):c.193-7A>G rs747018859 0.00002
NM_000337.6(SGCD):c.786G>A (p.Glu262=) rs1197695649 0.00002
NM_000337.6(SGCD):c.193-12G>T rs727503421 0.00001
NM_000337.6(SGCD):c.270C>T (p.Tyr90=) rs749273088 0.00001
NM_000337.6(SGCD):c.45T>A (p.Pro15=) rs727505092 0.00001
NM_000337.6(SGCD):c.642T>C (p.Ala214=) rs778303434 0.00001
NM_000337.6(SGCD):c.768G>A (p.Thr256=) rs376141942 0.00001
NM_000337.5(SGCD):c.-626_-616del rs149976574
NM_000337.6(SGCD):c.-13G>T rs1440354794
NM_000337.6(SGCD):c.-44+11_-44+13del rs1554093300
NM_000337.6(SGCD):c.-80G>T rs1057522676
NM_000337.6(SGCD):c.295-90C>T rs78134198
NM_000337.6(SGCD):c.383-11A>T rs727504584
NM_000337.6(SGCD):c.383-328C>T rs181540483
NM_000337.6(SGCD):c.383-33CTCTCTAT[2] rs727504998
NM_000337.6(SGCD):c.4-121G>A rs79949502
NM_000337.6(SGCD):c.516A>G (p.Thr172=) rs753952200
NM_000337.6(SGCD):c.576-14_576-10del rs1064794366
NM_000337.6(SGCD):c.576-15T>C rs918017706
NM_000337.6(SGCD):c.594G>T (p.Arg198=) rs754875886
NM_000337.6(SGCD):c.700-234dup rs562170881

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