ClinVar Miner

List of variants in gene SGCD reported by Fulgent Genetics, Fulgent Genetics

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Gene type:
ClinVar version:
Total variants: 80
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HGVS dbSNP gnomAD frequency
NM_000337.6(SGCD):c.*7596A>G rs80115276 0.02244
NM_000337.6(SGCD):c.507G>A (p.Ala169=) rs10071079 0.00680
NM_000337.6(SGCD):c.*158G>A rs187465743 0.00253
NM_000337.6(SGCD):c.*8110A>C rs796540027 0.00245
NM_000337.6(SGCD):c.699+71G>A rs187204080 0.00245
NM_000337.6(SGCD):c.*2604T>C rs541571525 0.00187
NM_000337.6(SGCD):c.*3845T>C rs528838126 0.00145
NM_000337.6(SGCD):c.*6065A>G rs183129118 0.00130
NM_000337.6(SGCD):c.*8356T>A rs576236693 0.00096
NM_000337.6(SGCD):c.*4993A>C rs62382385 0.00084
NM_000337.6(SGCD):c.*4608G>A rs541428502 0.00057
NM_000337.6(SGCD):c.*6833G>A rs137998497 0.00056
NM_000337.6(SGCD):c.*5591G>A rs746078886 0.00046
NM_000337.6(SGCD):c.*440G>A rs535200914 0.00038
NM_000337.6(SGCD):c.*6186C>T rs559185520 0.00030
NM_000337.6(SGCD):c.*7559G>C rs751653849 0.00028
NM_000337.6(SGCD):c.*2797A>T rs771116351 0.00027
NM_000337.6(SGCD):c.*5337G>A rs144968734 0.00021
NM_000337.6(SGCD):c.*7231A>T rs766236284 0.00020
NM_000337.6(SGCD):c.*5907T>C rs766068819 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.*1719G>A rs886060293 0.00014
NM_000337.6(SGCD):c.*3779T>C rs886060302 0.00014
NM_000337.6(SGCD):c.*1856A>T rs886060295 0.00013
NM_000337.6(SGCD):c.*753C>T rs543082767 0.00013
NM_000337.6(SGCD):c.755C>T (p.Thr252Met) rs199520526 0.00013
NM_000337.6(SGCD):c.*6127G>A rs527412372 0.00012
NM_000337.6(SGCD):c.451T>G (p.Ser151Ala) rs121909298 0.00012
NM_000337.6(SGCD):c.*2139C>T rs889080445 0.00011
NM_000337.6(SGCD):c.191T>C (p.Ile64Thr) rs376780156 0.00011
NM_000337.6(SGCD):c.*5467G>C rs749139391 0.00010
NM_000337.6(SGCD):c.*8380A>G rs556296196 0.00010
NM_000337.6(SGCD):c.3+11C>T rs374790317 0.00010
NM_000337.6(SGCD):c.160A>G (p.Ile54Val) rs200671745 0.00009
NM_000337.6(SGCD):c.*1047C>T rs999149586 0.00008
NM_000337.6(SGCD):c.*7298A>C rs886060321 0.00008
NM_000337.6(SGCD):c.*7507A>G rs75641902 0.00008
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.*1990C>T rs558206035 0.00006
NM_000337.6(SGCD):c.*5884A>G rs760303963 0.00005
NM_000337.6(SGCD):c.*7566C>T rs913397406 0.00004
NM_000337.6(SGCD):c.*906C>T rs886060292 0.00004
NM_000337.6(SGCD):c.292C>T (p.Pro98Ser) rs1437006739 0.00004
NM_000337.6(SGCD):c.393C>T (p.Ala131=) rs397517922 0.00004
NM_000337.6(SGCD):c.511G>A (p.Gly171Ser) rs764237334 0.00004
NM_000337.5(SGCD):c.-135C>T rs886060284 0.00003
NM_000337.6(SGCD):c.*3580G>A rs1214313359 0.00003
NM_000337.6(SGCD):c.-43-1G>A rs767016855 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.593G>A (p.Arg198Gln) rs750459196 0.00003
NM_000337.6(SGCD):c.699+72A>C rs376317697 0.00003
NM_000337.6(SGCD):c.716C>T (p.Ala239Val) rs377153196 0.00003
NM_000337.6(SGCD):c.*5749C>T rs886060310 0.00002
NM_000337.6(SGCD):c.1A>G (p.Met1Val) rs756367674 0.00002
NM_000337.6(SGCD):c.3+2T>A rs753979573 0.00002
NM_000337.6(SGCD):c.32G>A (p.Arg11Gln) rs752548592 0.00002
NM_000337.6(SGCD):c.91C>T (p.Arg31Trp) rs202223676 0.00002
NM_000337.6(SGCD):c.*5819G>T rs962759358 0.00001
NM_000337.6(SGCD):c.434C>G (p.Ser145Cys) rs1324593212 0.00001
NM_000337.6(SGCD):c.475G>A (p.Val159Ile) rs370327314 0.00001
NM_000337.6(SGCD):c.559C>T (p.Pro187Ser) rs769250018 0.00001
NM_000337.6(SGCD):c.*1906C>G rs540017785
NM_000337.6(SGCD):c.*1907G>A rs75063526
NM_000337.6(SGCD):c.*2813C>A rs886060297
NM_000337.6(SGCD):c.*2814G>A rs142023087
NM_000337.6(SGCD):c.*4935C>T rs1029399512
NM_000337.6(SGCD):c.*6223T>A rs886060313
NM_000337.6(SGCD):c.*6518C>T rs1165157961
NM_000337.6(SGCD):c.*6660dup rs57240389
NM_000337.6(SGCD):c.*6664C>T rs1010222786
NM_000337.6(SGCD):c.-44+1_-44+2dup rs1554093294
NM_000337.6(SGCD):c.-44+2T>A rs1300537737
NM_000337.6(SGCD):c.25C>T (p.His9Tyr) rs1320640424
NM_000337.6(SGCD):c.452C>T (p.Ser151Phe) rs766924806
NM_000337.6(SGCD):c.616A>G (p.Lys206Glu) rs1327580871
NM_000337.6(SGCD):c.699+13_699+15del rs397517924
NM_000337.6(SGCD):c.97C>T (p.Arg33Ter) rs778760498

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