ClinVar Miner

List of variants reported as affects for p phenotype

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Total variants: 11
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HGVS dbSNP
B3GALT3, 1-BP INS, 537A
B3GALT3, 202C-T
NM_003781.3(B3GALNT1):c.797A>C (p.Glu266Ala) rs28937582
NM_003781.3(B3GALNT1):c.811G>A (p.Gly271Arg) rs104893683
NM_017436.6(A4GALT):c.1029dup (p.Thr344Hisfs) rs387906280
NM_017436.6(A4GALT):c.240_242del (p.Phe81del) rs387906279
NM_017436.6(A4GALT):c.548T>A (p.Met183Lys) rs74315453
NM_017436.6(A4GALT):c.560G>A (p.Gly187Asp) rs28940572
NM_017436.6(A4GALT):c.631C>G (p.Gln211Glu) rs397514502
NM_017436.6(A4GALT):c.752C>T (p.Pro251Leu) rs28940571
NM_017436.6(A4GALT):c.783G>A (p.Trp261Ter) rs74315454

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