ClinVar Miner

List of variants in gene B4GALT7 studied for Ehlers-Danlos syndrome progeroid type

Included ClinVar conditions (4):
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Total variants: 26
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HGVS dbSNP
NM_007255.3(B4GALT7):c.122T>C (p.Leu41Pro) rs375845310
NM_007255.3(B4GALT7):c.185G>A (p.Arg62Lys) rs373059256
NM_007255.3(B4GALT7):c.218_219inv (p.Arg73His)
NM_007255.3(B4GALT7):c.219T>C (p.Arg73=) rs11537644
NM_007255.3(B4GALT7):c.225C>T (p.Cys75=) rs780427259
NM_007255.3(B4GALT7):c.277C>T (p.His93Tyr) rs142476892
NM_007255.3(B4GALT7):c.277dup (p.His93fs) rs879255634
NM_007255.3(B4GALT7):c.283C>G (p.Leu95Val) rs926913315
NM_007255.3(B4GALT7):c.297G>T (p.Val99=) rs114036939
NM_007255.3(B4GALT7):c.374G>A (p.Arg125Gln)
NM_007255.3(B4GALT7):c.387C>T (p.Tyr129=) rs200124872
NM_007255.3(B4GALT7):c.38G>A (p.Trp13Ter) rs200503833
NM_007255.3(B4GALT7):c.411C>T (p.Phe137=) rs142951817
NM_007255.3(B4GALT7):c.413+60C>G rs28499092
NM_007255.3(B4GALT7):c.421C>T (p.Arg141Trp) rs187063864
NM_007255.3(B4GALT7):c.557C>A (p.Ala186Asp) rs121917817
NM_007255.3(B4GALT7):c.589A>G (p.Lys197Glu) rs200732558
NM_007255.3(B4GALT7):c.617T>C (p.Leu206Pro) rs121917818
NM_007255.3(B4GALT7):c.641G>A (p.Cys214Tyr) rs753594601
NM_007255.3(B4GALT7):c.662T>C (p.Phe221Ser) rs1468472910
NM_007255.3(B4GALT7):c.676C>T (p.Arg226Cys) rs201489289
NM_007255.3(B4GALT7):c.687C>T (p.Asp229=) rs756942664
NM_007255.3(B4GALT7):c.697C>T (p.Arg233Trp) rs147617631
NM_007255.3(B4GALT7):c.777T>C (p.His259=) rs729459
NM_007255.3(B4GALT7):c.808C>T (p.Arg270Cys) rs28937869
NM_007255.3(B4GALT7):c.814G>A (p.Ala272Thr) rs146632722

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