ClinVar Miner

List of variants in gene B3GALNT2 reported by PreventionGenetics, part of Exact Sciences

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Gene type:
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Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_152490.5(B3GALNT2):c.321= (p.Glu107=) rs291396 0.53906
NM_152490.5(B3GALNT2):c.152A>G (p.Tyr51Cys) rs61742900 0.00622
NM_152490.5(B3GALNT2):c.81G>T (p.Pro27=) rs766891631 0.00024
NM_152490.5(B3GALNT2):c.-20G>C rs886038734 0.00013
NM_152490.5(B3GALNT2):c.279A>C (p.Ile93=) rs148341787 0.00010
NM_152490.5(B3GALNT2):c.397G>A (p.Glu133Lys) rs146090744 0.00004
NM_152490.5(B3GALNT2):c.537T>C (p.Leu179=) rs775836647 0.00003
NM_152490.5(B3GALNT2):c.1089C>T (p.Leu363=) rs1057522976 0.00001
NM_152490.5(B3GALNT2):c.1311+1G>C rs1379052702 0.00001
NM_152490.5(B3GALNT2):c.842-4A>G rs750335648 0.00001
NM_152490.5(B3GALNT2):c.113-1405G>A
NM_152490.5(B3GALNT2):c.204C>T (p.Asn68=) rs1057182171

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