ClinVar Miner

List of variants in gene B3GALT6 reported as uncertain significance for Ehlers-Danlos syndrome progeroid type

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 8
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NM_080605.4(B3GALT6):c.17G>A (p.Arg6Gln) rs1131691530
NM_080605.4(B3GALT6):c.236C>G (p.Thr79Arg) rs1409554936
NM_080605.4(B3GALT6):c.31C>T (p.Arg11Trp) rs1039242906
NM_080605.4(B3GALT6):c.341C>A (p.Ala114Glu) rs558454078
NM_080605.4(B3GALT6):c.35C>G (p.Ala12Gly) rs900539403
NM_080605.4(B3GALT6):c.446del (p.Phe149fs) rs1553151257
NM_080605.4(B3GALT6):c.655G>A (p.Val219Met) rs1557526653
NM_080605.4(B3GALT6):c.795A>C (p.Glu265Asp)

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