ClinVar Miner

List of variants in gene SGCD reported by GeneDx

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Gene type:
ClinVar version:
Total variants: 148
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HGVS dbSNP gnomAD frequency
NM_000337.6(SGCD):c.192+192G>A rs9313890 0.98637
NM_000337.6(SGCD):c.575+167A>C rs32055 0.91859
NM_000337.6(SGCD):c.*6717G>A rs1827368 0.90216
NM_000337.6(SGCD):c.192+86A>G rs4434364 0.77068
NM_000337.6(SGCD):c.4-143A>G rs8180473 0.57632
NM_000337.6(SGCD):c.-43-245A>G rs11744154 0.41421
NM_000337.6(SGCD):c.-43-130G>A rs11740347 0.41389
NM_000337.6(SGCD):c.84T>C (p.Tyr28=) rs1801193 0.39558
NM_000337.6(SGCD):c.503-224T>G rs39925 0.37569
NM_000337.6(SGCD):c.382+232T>A rs181875 0.32738
NM_000337.6(SGCD):c.294+279C>A rs256826 0.20785
NM_000337.6(SGCD):c.*3772dup rs397841758 0.20069
NM_000337.6(SGCD):c.3+248C>T rs10447212 0.15850
NM_000337.6(SGCD):c.*5863C>T rs11953631 0.15411
NM_000337.6(SGCD):c.295-286G>A rs280475 0.13534
NM_000337.6(SGCD):c.*4092A>G rs56389540 0.09897
NM_000337.6(SGCD):c.*3650G>T rs72803044 0.08674
NM_000337.6(SGCD):c.*3962G>A rs56182215 0.08205
NM_000337.6(SGCD):c.*3687A>G rs72803046 0.08194
NM_000337.6(SGCD):c.700-141C>T rs72803039 0.06886
NM_000337.6(SGCD):c.*7300C>A rs72803048 0.06455
NM_000337.5(SGCD):c.-303A>T rs7725121 0.06375
NM_000337.6(SGCD):c.3+285A>G rs142576328 0.04772
NM_000337.6(SGCD):c.290G>A (p.Arg97Gln) rs45559835 0.04292
NM_000337.6(SGCD):c.294+124A>G rs115859006 0.04023
NM_000337.6(SGCD):c.502+246G>C rs138502989 0.02396
NM_000337.6(SGCD):c.383-171A>G rs888841 0.02355
NM_000337.6(SGCD):c.*7596A>G rs80115276 0.02244
NM_000337.6(SGCD):c.700-19T>C rs80086857 0.02231
NM_000337.6(SGCD):c.576-84G>T rs115753043 0.02060
NM_000337.6(SGCD):c.295-40T>A rs74571343 0.01950
NM_000337.6(SGCD):c.294+89A>G rs11957790 0.01883
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
NC_000005.10:g.156326739C>A rs114128937 0.01260
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_000337.5(SGCD):c.-179A>G rs77808502 0.00918
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.507G>A (p.Ala169=) rs10071079 0.00680
NM_000337.6(SGCD):c.192+121G>A rs114976142 0.00655
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_000337.6(SGCD):c.817C>T (p.Leu273=) rs375029639 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_000337.6(SGCD):c.3+20G>A rs187786098 0.00013
NM_000337.6(SGCD):c.755C>T (p.Thr252Met) rs199520526 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.*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.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.458A>G (p.Asp153Gly) rs752000538 0.00003
NM_000337.6(SGCD):c.494G>A (p.Arg165Gln) rs727503423 0.00003
NM_000337.6(SGCD):c.193-7A>G rs747018859 0.00002
NM_000337.6(SGCD):c.298A>C (p.Asn100His) rs1436273126 0.00002
NM_000337.6(SGCD):c.32G>A (p.Arg11Gln) rs752548592 0.00002
NM_000337.6(SGCD):c.630C>T (p.Ile210=) rs763051644 0.00002
NM_000337.6(SGCD):c.786G>A (p.Glu262=) rs1197695649 0.00002
NM_000337.6(SGCD):c.91C>T (p.Arg31Trp) rs202223676 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.42G>T (p.Met14Ile) rs1281906026 0.00001
NM_000337.6(SGCD):c.45T>A (p.Pro15=) rs727505092 0.00001
NM_000337.6(SGCD):c.493C>T (p.Arg165Ter) rs121909295 0.00001
NM_000337.6(SGCD):c.632A>G (p.Asn211Ser) rs794727901 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_000337.6(SGCD):c.799G>A (p.Ala267Thr) rs772799792 0.00001
NM_000337.6(SGCD):c.803A>G (p.Asn268Ser) rs762681488 0.00001
NM_000337.6(SGCD):c.85G>A (p.Gly29Ser) rs773399590 0.00001
NC_000005.10:g.156326901A>G rs915480419
NC_000005.10:g.156327060C>G rs1767843316
NM_000337.5(SGCD):c.-372C>G rs7717393
NM_000337.5(SGCD):c.-412A>T rs7724969
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.-94C>G rs13170573
NM_000337.6(SGCD):c.105G>C (p.Leu35=) rs193922392
NM_000337.6(SGCD):c.116T>C (p.Val39Ala) rs794729164
NM_000337.6(SGCD):c.192+4A>G rs750150347
NM_000337.6(SGCD):c.193-74171C>A rs6556621
NM_000337.6(SGCD):c.193-87del rs71577199
NM_000337.6(SGCD):c.193-88_193-87del rs71577199
NM_000337.6(SGCD):c.242_244del (p.Gly81del) rs794729165
NM_000337.6(SGCD):c.295-242TG[17] rs113243314
NM_000337.6(SGCD):c.295-242TG[19] rs113243314
NM_000337.6(SGCD):c.295-242TG[20] rs113243314
NM_000337.6(SGCD):c.295-242TG[22] rs113243314
NM_000337.6(SGCD):c.295-242TG[23] rs113243314
NM_000337.6(SGCD):c.295-242TG[24] rs113243314
NM_000337.6(SGCD):c.295-90C>T rs78134198
NM_000337.6(SGCD):c.3+19C>T rs182715924
NM_000337.6(SGCD):c.314A>G (p.Lys105Arg) rs1760622847
NM_000337.6(SGCD):c.333A>C (p.Thr111=) rs886042290
NM_000337.6(SGCD):c.337A>C (p.Asn113His) rs1760624404
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.4-69dup rs80276463
NM_000337.6(SGCD):c.516A>G (p.Thr172=) rs753952200
NM_000337.6(SGCD):c.538A>T (p.Thr180Ser) rs1187720404
NM_000337.6(SGCD):c.575+111_575+117del rs3832352
NM_000337.6(SGCD):c.576-133dup rs3215118
NM_000337.6(SGCD):c.576-14_576-10del rs1064794366
NM_000337.6(SGCD):c.576-15T>C rs918017706
NM_000337.6(SGCD):c.586C>A (p.Pro196Thr) rs1757387093
NM_000337.6(SGCD):c.594G>T (p.Arg198=) rs754875886
NM_000337.6(SGCD):c.699+11del rs2113178377
NM_000337.6(SGCD):c.699+12del rs2113178411
NM_000337.6(SGCD):c.699+13_699+15del rs397517924
NM_000337.6(SGCD):c.699+14del rs2113178436
NM_000337.6(SGCD):c.700-234dup rs562170881
NM_000337.6(SGCD):c.823C>T (p.Gln275Ter)
NM_000337.6(SGCD):c.89G>C (p.Trp30Ser) rs121909296
NM_000337.6(SGCD):c.97C>T (p.Arg33Ter) rs778760498

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