ClinVar Miner

List of variants in gene SGCD reported by GeneDx

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Gene type:
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Total variants: 68
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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.-43-130G>A
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+13delGTT rs1554093300
NM_000337.5(SGCD):c.-80G>T rs1057522676
NM_000337.5(SGCD):c.116T>C (p.Val39Ala) rs794729164
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.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+4A>G rs750150347
NM_000337.5(SGCD):c.192+86A>G
NM_000337.5(SGCD):c.193-12G>T rs727503421
NM_000337.5(SGCD):c.193-17T>G rs201079829
NM_000337.5(SGCD):c.242_244del (p.Gly81del) rs794729165
NM_000337.5(SGCD):c.294+15A>C rs377470284
NM_000337.5(SGCD):c.294+279C>A
NM_000337.5(SGCD):c.295-286G>A
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+20G>A rs187786098
NM_000337.5(SGCD):c.3+248C>T
NM_000337.5(SGCD):c.32G>A (p.Arg11Gln) rs752548592
NM_000337.5(SGCD):c.382+232T>A
NM_000337.5(SGCD):c.383-11A>T rs727504584
NM_000337.5(SGCD):c.383-171A>G
NM_000337.5(SGCD):c.383-33CTCTCTAT[2] rs727504998
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.4-143A>G
NM_000337.5(SGCD):c.4-169A>C
NM_000337.5(SGCD):c.4-41G>T
NM_000337.5(SGCD):c.402T>C (p.Ala134=) rs190935424
NM_000337.5(SGCD):c.45T>A (p.Pro15=) rs727505092
NM_000337.5(SGCD):c.493C>T (p.Arg165Ter) rs121909295
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.510G>A (p.Glu170=) rs368838376
NM_000337.5(SGCD):c.543T>G (p.Pro181=) rs200451694
NM_000337.5(SGCD):c.575+167A>C
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.699+71G>A rs187204080
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.755C>T (p.Thr252Met) rs199520526
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.793G>A (p.Val265Ile) rs772185467
NM_000337.5(SGCD):c.817C>T (p.Leu273=) rs375029639
NM_000337.5(SGCD):c.84T>C (p.Tyr28=) rs1801193
NM_000337.5(SGCD):c.89G>C (p.Trp30Ser) rs121909296
NM_000337.5(SGCD):c.92G>A (p.Arg31Gln) rs200476861
NM_000337.5:c.295-40T>A
NM_001128209.2(SGCD):c.696+13_696+15del rs397517924

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