ClinVar Miner

List of variants in gene B3GALT6 reported as pathogenic 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_080605.4(B3GALT6):c.16C>T (p.Arg6Trp) rs397514722
NM_080605.4(B3GALT6):c.353del (p.Asp118fs) rs750088530
NM_080605.4(B3GALT6):c.415_423del (p.Met139_Ala141del) rs786200942
NM_080605.4(B3GALT6):c.545A>G (p.Tyr182Cys) rs1314046622
NM_080605.4(B3GALT6):c.556T>C (p.Phe186Leu) rs1553151294
NM_080605.4(B3GALT6):c.588del (p.Arg197fs) rs533071750
NM_080605.4(B3GALT6):c.925T>A (p.Ser309Thr) rs397514721

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