ClinVar Miner

List of variants in gene B3GALNT2 reported as uncertain significance by Ambry Genetics

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Gene type:
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Total variants: 19
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HGVS dbSNP gnomAD frequency
NM_152490.5(B3GALNT2):c.865C>T (p.Leu289Phe) rs185213208 0.00032
NM_152490.5(B3GALNT2):c.400G>C (p.Asp134His) rs370993648 0.00019
NM_152490.5(B3GALNT2):c.169G>A (p.Val57Met) rs142756842 0.00016
NM_152490.5(B3GALNT2):c.1019A>G (p.Tyr340Cys) rs773864097 0.00006
NM_152490.5(B3GALNT2):c.29C>G (p.Pro10Arg) rs1335073175 0.00004
NM_152490.5(B3GALNT2):c.628G>A (p.Val210Met) rs781198538 0.00004
NM_152490.5(B3GALNT2):c.64C>T (p.Arg22Trp) rs962461243 0.00004
NM_152490.5(B3GALNT2):c.555+5G>A rs373909279 0.00001
NM_152490.5(B3GALNT2):c.694G>A (p.Gly232Ser) rs775573521 0.00001
NM_152490.5(B3GALNT2):c.826A>G (p.Ile276Val) rs533620649 0.00001
NM_152490.5(B3GALNT2):c.1088T>G (p.Leu363Arg)
NM_152490.5(B3GALNT2):c.1211G>C (p.Ser404Thr)
NM_152490.5(B3GALNT2):c.22C>G (p.Leu8Val) rs1685731091
NM_152490.5(B3GALNT2):c.259C>G (p.Arg87Gly) rs747653180
NM_152490.5(B3GALNT2):c.356A>T (p.Asn119Ile)
NM_152490.5(B3GALNT2):c.458A>T (p.Tyr153Phe) rs757111780
NM_152490.5(B3GALNT2):c.614T>C (p.Leu205Pro) rs1553349873
NM_152490.5(B3GALNT2):c.642C>G (p.Ile214Met)
NM_152490.5(B3GALNT2):c.679A>T (p.Ser227Cys)

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