ClinVar Miner

List of variants reported as likely benign for Ehlers-Danlos syndrome progeroid type

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 10
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HGVS dbSNP
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
NM_080605.4(B3GALT6):c.138C>T (p.Ser46=) rs190796582
NM_080605.4(B3GALT6):c.515C>T (p.Ala172Val) rs200646244
NM_080605.4(B3GALT6):c.753G>A (p.Pro251=) rs370328225

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