ClinVar Miner

List of variants in gene combination B3GALNT2, TBCE reported as uncertain significance for cobblestone lissencephaly

Included ClinVar conditions (33):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 7
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HGVS dbSNP
NM_152490.5(B3GALNT2):c.1373G>A (p.Ser458Asn) rs202067569
NM_152490.5(B3GALNT2):c.1397G>A (p.Cys466Tyr)
NM_152490.5(B3GALNT2):c.1433C>T (p.Pro478Leu)
NM_152490.5(B3GALNT2):c.1445C>T (p.Thr482Met)
NM_152490.5(B3GALNT2):c.1468C>T (p.Arg490Trp)
NM_152490.5(B3GALNT2):c.1474G>A (p.Gly492Ser)
NM_152490.5(B3GALNT2):c.1487G>A (p.Arg496Gln) rs111541487

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