ClinVar Miner

List of variants in gene SGCD reported by Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine

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Gene type:
ClinVar version:
Total variants: 45
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HGVS dbSNP
NM_000337.5(SGCD):c.*2A>C rs200757725
NM_000337.5(SGCD):c.-148_-122del rs727504478
NM_000337.5(SGCD):c.-179A>G rs77808502
NM_000337.5(SGCD):c.-303A>T rs7725121
NM_000337.5(SGCD):c.-352T>C rs727503419
NM_000337.5(SGCD):c.-372C>G rs7717393
NM_000337.5(SGCD):c.-378G>T rs531296131
NM_000337.5(SGCD):c.-404G>A rs192662989
NM_000337.5(SGCD):c.-412A>T rs7724969
NM_000337.5(SGCD):c.-41A>T rs369889635
NM_000337.5(SGCD):c.-44+11G>A rs184722381
NM_000337.5(SGCD):c.-44G>T rs727503420
NM_000337.5(SGCD):c.-59G>A rs375477247
NM_000337.5(SGCD):c.-94C>G rs13170573
NM_000337.5(SGCD):c.105G>C (p.Leu35=) rs193922392
NM_000337.5(SGCD):c.123C>G (p.Leu41=) rs200670993
NM_000337.5(SGCD):c.144G>C (p.Val48=) rs372152495
NM_000337.5(SGCD):c.177C>T (p.Val59=) rs727505265
NM_000337.5(SGCD):c.193-12G>T rs727503421
NM_000337.5(SGCD):c.213G>A (p.Arg71=) rs74846539
NM_000337.5(SGCD):c.290G>A (p.Arg97Gln) rs45559835
NM_000337.5(SGCD):c.294+1G>A rs727503422
NM_000337.5(SGCD):c.294+8T>C rs11748588
NM_000337.5(SGCD):c.383-11A>T rs727504584
NM_000337.5(SGCD):c.383-33CTCTCTAT[2] rs727504998
NM_000337.5(SGCD):c.390del (p.Ala131fs) rs397517921
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.4-12C>T rs727504580
NM_000337.5(SGCD):c.451T>G (p.Ser151Ala) rs121909298
NM_000337.5(SGCD):c.45T>A (p.Pro15=) rs727505092
NM_000337.5(SGCD):c.494G>A (p.Arg165Gln) rs727503423
NM_000337.5(SGCD):c.506C>T (p.Ala169Val) rs876658001
NM_000337.5(SGCD):c.507G>A (p.Ala169=) rs10071079
NM_000337.5(SGCD):c.697G>A (p.Glu233Lys) rs768979513
NM_000337.5(SGCD):c.699+18C>G rs180898690
NM_000337.5(SGCD):c.699+71G>A rs187204080
NM_000337.5(SGCD):c.699+72A>C rs376317697
NM_000337.5(SGCD):c.69C>T (p.Tyr23=) rs397517923
NM_000337.5(SGCD):c.731C>T (p.Pro244Leu) rs375159661
NM_000337.5(SGCD):c.839C>A (p.Ser280Tyr) rs397516337
NM_000337.5(SGCD):c.848A>G (p.Gln283Arg) rs397516338
NM_000337.5(SGCD):c.84T>C (p.Tyr28=) rs1801193
NM_000337.5(SGCD):c.92G>A (p.Arg31Gln) rs200476861
NM_001128209.2(SGCD):c.696+13_696+15del rs397517924

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