ClinVar Miner

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

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Gene type:
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Total variants: 35
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HGVS dbSNP
NM_000337.5(SGCD):c.*4A>G rs144825977
NM_000337.5(SGCD):c.-13G>T rs1440354794
NM_000337.5(SGCD):c.-30G>A rs374043017
NM_000337.5(SGCD):c.-44+11G>A rs184722381
NM_000337.5(SGCD):c.-44+11_-44+13delGTT rs1554093300
NM_000337.5(SGCD):c.-80G>T rs1057522676
NM_000337.5(SGCD):c.15G>C (p.Glu5Asp) rs549319429
NM_000337.5(SGCD):c.192+121G>A
NM_000337.5(SGCD):c.193-12G>T rs727503421
NM_000337.5(SGCD):c.193-17T>G rs201079829
NM_000337.5(SGCD):c.294+15A>C rs377470284
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.383-11A>T rs727504584
NM_000337.5(SGCD):c.383-33CTCTCTAT[2] rs727504998
NM_000337.5(SGCD):c.393C>T (p.Ala131=) rs397517922
NM_000337.5(SGCD):c.4-121G>A
NM_000337.5(SGCD):c.4-169A>C
NM_000337.5(SGCD):c.4-41G>T
NM_000337.5(SGCD):c.45T>A (p.Pro15=) rs727505092
NM_000337.5(SGCD):c.502+246G>C
NM_000337.5(SGCD):c.502+250G>T
NM_000337.5(SGCD):c.543T>G (p.Pro181=) rs200451694
NM_000337.5(SGCD):c.576-14_576-10delTGGGT rs1064794366
NM_000337.5(SGCD):c.576-15T>C rs918017706
NM_000337.5(SGCD):c.576-277T>C
NM_000337.5(SGCD):c.594G>T (p.Arg198=) rs754875886
NM_000337.5(SGCD):c.642T>C (p.Ala214=)
NM_000337.5(SGCD):c.699+18C>G rs180898690
NM_000337.5(SGCD):c.69C>T (p.Tyr23=) rs397517923
NM_000337.5(SGCD):c.717G>A (p.Ala239=) rs145430692
NM_000337.5(SGCD):c.768G>A (p.Thr256=) rs376141942
NM_000337.5(SGCD):c.786G>A (p.Glu262=) rs1197695649
NM_000337.5(SGCD):c.817C>T (p.Leu273=) rs375029639

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