ClinVar Miner

List of variants in gene B3GALT6 studied for Ehlers-Danlos syndrome

Included ClinVar conditions (36):
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Gene type:
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Total variants: 15
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HGVS dbSNP
NM_080605.4(B3GALT6):c.138C>T (p.Ser46=) rs190796582
NM_080605.4(B3GALT6):c.16C>T (p.Arg6Trp) rs397514722
NM_080605.4(B3GALT6):c.17G>A (p.Arg6Gln) rs1131691530
NM_080605.4(B3GALT6):c.22_36dup (p.Trp8_Ala12dup) rs1553151151
NM_080605.4(B3GALT6):c.236C>G (p.Thr79Arg) rs1409554936
NM_080605.4(B3GALT6):c.341C>A (p.Ala114Glu)
NM_080605.4(B3GALT6):c.353del (p.Asp118fs) rs750088530
NM_080605.4(B3GALT6):c.35C>G (p.Ala12Gly) rs900539403
NM_080605.4(B3GALT6):c.388G>A (p.Glu130Lys)
NM_080605.4(B3GALT6):c.415_423del (p.Met139_Ala141del) rs786200942
NM_080605.4(B3GALT6):c.446del (p.Phe149fs) rs1553151257
NM_080605.4(B3GALT6):c.545A>G (p.Tyr182Cys) rs1314046622
NM_080605.4(B3GALT6):c.588del (p.Arg197fs) rs533071750
NM_080605.4(B3GALT6):c.655G>A (p.Val219Met) rs1557526653
NM_080605.4(B3GALT6):c.925T>A (p.Ser309Thr) rs397514721

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