ClinVar Miner

List of variants in gene B4GALT7 reported as likely benign for Ehlers-Danlos syndrome

Included ClinVar conditions (43):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 7
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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.387C>T (p.Tyr129=) rs200124872
NM_007255.3(B4GALT7):c.411C>T (p.Phe137=) rs142951817
NM_007255.3(B4GALT7):c.589A>G (p.Lys197Glu) rs200732558
NM_007255.3(B4GALT7):c.676C>T (p.Arg226Cys) rs201489289
NM_007255.3(B4GALT7):c.697C>T (p.Arg233Trp) rs147617631

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