ClinVar Miner

List of variants in gene SGCD studied for not specified

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Total variants: 73
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HGVS dbSNP gnomAD frequency
NM_000337.6(SGCD):c.84T>C (p.Tyr28=) rs1801193 0.39558
NM_000337.5(SGCD):c.-303A>T rs7725121 0.06375
NM_000337.6(SGCD):c.290G>A (p.Arg97Gln) rs45559835 0.04292
NM_000337.6(SGCD):c.700-19T>C rs80086857 0.02231
NM_000337.6(SGCD):c.295-40T>A rs74571343 0.01950
NM_000337.5(SGCD):c.-179A>G rs77808502 0.00918
NM_000337.6(SGCD):c.507G>A (p.Ala169=) rs10071079 0.00680
NM_000337.6(SGCD):c.294+8T>C rs11748588 0.00640
NM_000337.6(SGCD):c.699+71G>A rs187204080 0.00245
NM_000337.6(SGCD):c.*2A>C rs200757725 0.00241
NM_000337.6(SGCD):c.213G>A (p.Arg71=) rs74846539 0.00115
NM_000337.6(SGCD):c.144G>C (p.Val48=) rs372152495 0.00106
NM_000337.5(SGCD):c.-352T>C rs727503419 0.00043
NM_000337.6(SGCD):c.543T>G (p.Pro181=) rs200451694 0.00041
NM_000337.6(SGCD):c.510G>A (p.Glu170=) rs368838376 0.00029
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_000337.5(SGCD):c.-404G>A rs192662989 0.00016
NM_000337.6(SGCD):c.92G>A (p.Arg31Gln) rs200476861 0.00016
NM_000337.6(SGCD):c.123C>G (p.Leu41=) rs200670993 0.00015
NM_000337.5(SGCD):c.-378G>T rs531296131 0.00013
NM_000337.6(SGCD):c.3+20G>A rs187786098 0.00013
NM_000337.6(SGCD):c.451T>G (p.Ser151Ala) rs121909298 0.00012
NM_000337.6(SGCD):c.191T>C (p.Ile64Thr) rs376780156 0.00011
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.394G>A (p.Val132Ile) rs367819390 0.00010
NM_000337.6(SGCD):c.793G>A (p.Val265Ile) rs772185467 0.00010
NM_000337.6(SGCD):c.160A>G (p.Ile54Val) rs200671745 0.00009
NM_000337.6(SGCD):c.717G>A (p.Ala239=) rs145430692 0.00009
NM_000337.6(SGCD):c.-59G>A rs375477247 0.00008
NM_000337.6(SGCD):c.566A>G (p.Lys189Arg) rs538002169 0.00008
NM_000337.6(SGCD):c.*4A>G rs144825977 0.00007
NM_000337.6(SGCD):c.402T>C (p.Ala134=) rs190935424 0.00007
NM_000337.6(SGCD):c.-44+11G>A rs184722381 0.00006
NM_000337.6(SGCD):c.295-20C>A rs144250417 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.4-12C>T rs727504580 0.00004
NM_000337.6(SGCD):c.-44G>T rs727503420 0.00003
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.494G>A (p.Arg165Gln) rs727503423 0.00003
NM_000337.6(SGCD):c.697G>A (p.Glu233Lys) rs768979513 0.00003
NM_000337.6(SGCD):c.699+72A>C rs376317697 0.00003
NM_000337.6(SGCD):c.731C>T (p.Pro244Leu) rs375159661 0.00003
NM_000337.6(SGCD):c.-41A>T rs369889635 0.00001
NM_000337.6(SGCD):c.193-12G>T rs727503421 0.00001
NM_000337.6(SGCD):c.31C>T (p.Arg11Trp) rs566181541 0.00001
NM_000337.6(SGCD):c.340A>G (p.Ile114Val) rs760206240 0.00001
NM_000337.6(SGCD):c.45T>A (p.Pro15=) rs727505092 0.00001
NM_000337.6(SGCD):c.506C>T (p.Ala169Val) rs876658001 0.00001
NC_000005.9:g.(?_155753766)_(155771688_155935610)dup
NM_000337.5(SGCD):c.-148_-122del27 rs727504478
NM_000337.5(SGCD):c.-372C>G rs7717393
NM_000337.5(SGCD):c.-412A>T rs7724969
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.-94C>G rs13170573
NM_000337.6(SGCD):c.105G>C (p.Leu35=) rs193922392
NM_000337.6(SGCD):c.177C>T (p.Val59=) rs727505265
NM_000337.6(SGCD):c.3+19C>T rs182715924
NM_000337.6(SGCD):c.383-11A>T rs727504584
NM_000337.6(SGCD):c.383-33CTCTCTAT[2] rs727504998
NM_000337.6(SGCD):c.383-33CTCTCTAT[4] rs727504998
NM_000337.6(SGCD):c.576-14_576-10del rs1064794366
NM_000337.6(SGCD):c.576-15T>C rs918017706
NM_000337.6(SGCD):c.699+13_699+15del rs397517924
NM_000337.6(SGCD):c.839C>A (p.Ser280Tyr) rs397516337
NM_000337.6(SGCD):c.91C>G (p.Arg31Gly) rs202223676

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