ClinVar Miner

List of variants in gene B3GALNT2 reported as likely pathogenic for cobblestone lissencephaly

Included ClinVar conditions (33):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 9
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HGVS dbSNP
NM_152490.5(B3GALNT2):c.169G>A (p.Val57Met) rs142756842
NM_152490.5(B3GALNT2):c.652-2A>G rs1553347936
NM_152490.5(B3GALNT2):c.740G>A (p.Gly247Glu) rs367543072
NM_152490.5(B3GALNT2):c.755T>G (p.Val252Gly) rs367543073
NM_152490.5(B3GALNT2):c.762+1G>A rs757347274
NM_152490.5(B3GALNT2):c.802G>A (p.Val268Met) rs367543074
NM_152490.5(B3GALNT2):c.824_825dup (p.Ile276fs) rs367543075
NM_152490.5(B3GALNT2):c.842-1G>C
NM_152490.5(B3GALNT2):c.875G>C (p.Arg292Pro) rs367543076

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