ClinVar Miner

List of variants reported as not provided by Leiden Muscular Dystrophy pages (B3GALNT2)

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Total variants: 9
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HGVS dbSNP
NM_152490.5(B3GALNT2):c.1423C>T (p.Gln475Ter) rs367543077
NM_152490.5(B3GALNT2):c.306_307TG[1] (p.Val103fs) rs367543070
NM_152490.5(B3GALNT2):c.51_73dup (p.Ser25fs) rs367543069
NM_152490.5(B3GALNT2):c.726_727del (p.Val243fs) rs367543071
NM_152490.5(B3GALNT2):c.740G>A (p.Gly247Glu) rs367543072
NM_152490.5(B3GALNT2):c.755T>G (p.Val252Gly) rs367543073
NM_152490.5(B3GALNT2):c.802G>A (p.Val268Met) rs367543074
NM_152490.5(B3GALNT2):c.824_825dup (p.Ile276fs) rs367543075
NM_152490.5(B3GALNT2):c.875G>C (p.Arg292Pro) rs367543076

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