ClinVar Miner

List of variants in gene B3GNT4 reported by Ambry Genetics

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Total variants: 56
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HGVS dbSNP gnomAD frequency
NM_030765.4(B3GNT4):c.802A>G (p.Arg268Gly) rs144265607 0.00034
NM_030765.4(B3GNT4):c.682G>A (p.Val228Met) rs145634810 0.00021
NM_030765.4(B3GNT4):c.869G>A (p.Arg290His) rs147517845 0.00018
NM_030765.4(B3GNT4):c.1049G>A (p.Arg350His) rs146461022 0.00016
NM_030765.4(B3GNT4):c.109A>G (p.Ser37Gly) rs141924852 0.00015
NM_030765.4(B3GNT4):c.573C>A (p.Phe191Leu) rs774168455 0.00014
NM_030765.4(B3GNT4):c.217C>T (p.His73Tyr) rs555830032 0.00013
NM_030765.4(B3GNT4):c.346A>G (p.Lys116Glu) rs144184548 0.00009
NM_030765.4(B3GNT4):c.910G>A (p.Asp304Asn) rs754320135 0.00007
NM_030765.4(B3GNT4):c.469T>C (p.Phe157Leu) rs768079578 0.00005
NM_030765.4(B3GNT4):c.991C>T (p.Arg331Trp) rs576126195 0.00005
NM_030765.4(B3GNT4):c.995G>A (p.Arg332Gln) rs758915606 0.00005
NM_030765.4(B3GNT4):c.203C>T (p.Pro68Leu) rs759338574 0.00003
NM_030765.4(B3GNT4):c.769A>G (p.Lys257Glu) rs1953933075 0.00003
NM_030765.4(B3GNT4):c.604C>A (p.Arg202Ser) rs772447869 0.00002
NM_030765.4(B3GNT4):c.796A>G (p.Met266Val) rs572271254 0.00002
NM_030765.4(B3GNT4):c.1069T>G (p.Trp357Gly) rs146520085 0.00001
NM_030765.4(B3GNT4):c.1030G>A (p.Gly344Arg) rs765978651
NM_030765.4(B3GNT4):c.1033C>G (p.Leu345Val) rs1288174641
NM_030765.4(B3GNT4):c.1048C>T (p.Arg350Cys)
NM_030765.4(B3GNT4):c.104C>T (p.Ser35Leu)
NM_030765.4(B3GNT4):c.10C>T (p.Pro4Ser)
NM_030765.4(B3GNT4):c.1108T>G (p.Cys370Gly) rs1322126262
NM_030765.4(B3GNT4):c.1123A>C (p.Ile375Leu)
NM_030765.4(B3GNT4):c.1133G>A (p.Arg378His) rs1441659240
NM_030765.4(B3GNT4):c.176C>T (p.Pro59Leu)
NM_030765.4(B3GNT4):c.179C>T (p.Thr60Met)
NM_030765.4(B3GNT4):c.189G>C (p.Gln63His)
NM_030765.4(B3GNT4):c.208A>T (p.Thr70Ser)
NM_030765.4(B3GNT4):c.221G>A (p.Ser74Asn)
NM_030765.4(B3GNT4):c.236A>G (p.Asn79Ser)
NM_030765.4(B3GNT4):c.250A>G (p.Ser84Gly)
NM_030765.4(B3GNT4):c.268C>T (p.Pro90Ser) rs760803526
NM_030765.4(B3GNT4):c.317C>G (p.Ser106Cys) rs1041072856
NM_030765.4(B3GNT4):c.401G>A (p.Arg134His)
NM_030765.4(B3GNT4):c.415A>C (p.Ser139Arg)
NM_030765.4(B3GNT4):c.423G>T (p.Trp141Cys)
NM_030765.4(B3GNT4):c.452G>A (p.Arg151Gln)
NM_030765.4(B3GNT4):c.467T>G (p.Val156Gly)
NM_030765.4(B3GNT4):c.493G>T (p.Ala165Ser)
NM_030765.4(B3GNT4):c.503C>T (p.Ala168Val)
NM_030765.4(B3GNT4):c.518A>G (p.Tyr173Cys)
NM_030765.4(B3GNT4):c.52G>A (p.Gly18Ser) rs1420030263
NM_030765.4(B3GNT4):c.537T>G (p.Asp179Glu)
NM_030765.4(B3GNT4):c.558C>A (p.Phe186Leu)
NM_030765.4(B3GNT4):c.560C>A (p.Thr187Asn)
NM_030765.4(B3GNT4):c.597C>G (p.His199Gln)
NM_030765.4(B3GNT4):c.632C>T (p.Ala211Val) rs1204704799
NM_030765.4(B3GNT4):c.648G>T (p.Lys216Asn) rs377393964
NM_030765.4(B3GNT4):c.673G>A (p.Val225Ile) rs140444368
NM_030765.4(B3GNT4):c.679A>G (p.Asn227Asp)
NM_030765.4(B3GNT4):c.821C>T (p.Pro274Leu)
NM_030765.4(B3GNT4):c.823T>A (p.Tyr275Asn)
NM_030765.4(B3GNT4):c.839G>T (p.Gly280Val)
NM_030765.4(B3GNT4):c.862G>A (p.Val288Met)
NM_030765.4(B3GNT4):c.891T>A (p.Asp297Glu)

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