ClinVar Miner

List of variants in gene B3GALNT2, TBCE studied for congenital vitreoretinal dysplasia

Included ClinVar conditions (42):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 10
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HGVS dbSNP
NM_152490.4(B3GALNT2):c.[1438_1455dup18];[979G>A]
NM_152490.5(B3GALNT2):c.1373G>A (p.Ser458Asn) rs202067569
NM_152490.5(B3GALNT2):c.1397G>A (p.Cys466Tyr) rs1572474424
NM_152490.5(B3GALNT2):c.1423C>T (p.Gln475Ter) rs367543077
NM_152490.5(B3GALNT2):c.1433C>T (p.Pro478Leu) rs373773440
NM_152490.5(B3GALNT2):c.1445C>T (p.Thr482Met) rs541697587
NM_152490.5(B3GALNT2):c.1468C>T (p.Arg490Trp) rs751445150
NM_152490.5(B3GALNT2):c.1474G>A (p.Gly492Ser) rs772910525
NM_152490.5(B3GALNT2):c.1486C>T (p.Arg496Ter)
NM_152490.5(B3GALNT2):c.1487G>A (p.Arg496Gln) rs111541487

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