ClinVar Miner

List of variants in gene ST3GAL5 reported as pathogenic for GM3 synthase deficiency

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Gene type:
ClinVar version:
Total variants: 33
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HGVS dbSNP gnomAD frequency
NM_003896.4(ST3GAL5):c.1063G>A (p.Glu355Lys) rs534438354 0.00013
NM_003896.4(ST3GAL5):c.282del (p.Met94fs) rs1383734078 0.00002
NM_003896.4(ST3GAL5):c.862C>T (p.Arg288Ter) rs104893668 0.00002
NM_003896.4(ST3GAL5):c.147G>A (p.Trp49Ter) rs778265926 0.00001
NM_003896.4(ST3GAL5):c.333T>G (p.Tyr111Ter) rs368298013 0.00001
NM_003896.4(ST3GAL5):c.601G>A (p.Gly201Arg) rs771732955 0.00001
NC_000002.11:g.(?_86073480)_(86075347_?)del
NC_000002.11:g.(?_86088284)_(86090628_?)del
NM_003896.4(ST3GAL5):c.1000C>T (p.Arg334Ter) rs200541102
NM_003896.4(ST3GAL5):c.1000del (p.Arg334fs)
NM_003896.4(ST3GAL5):c.1001del (p.Arg334fs)
NM_003896.4(ST3GAL5):c.1008+1G>A
NM_003896.4(ST3GAL5):c.1024G>A (p.Gly342Ser) rs367638648
NM_003896.4(ST3GAL5):c.1030_1031del (p.Ile344fs) rs2104584644
NM_003896.4(ST3GAL5):c.124del (p.Cys42fs) rs777319882
NM_003896.4(ST3GAL5):c.154C>T (p.Arg52Ter)
NM_003896.4(ST3GAL5):c.271G>T (p.Glu91Ter)
NM_003896.4(ST3GAL5):c.289del (p.Met97fs)
NM_003896.4(ST3GAL5):c.289dup (p.Met97fs)
NM_003896.4(ST3GAL5):c.297T>G (p.Tyr99Ter) rs1423247945
NM_003896.4(ST3GAL5):c.318+1del rs1684687070
NM_003896.4(ST3GAL5):c.332dup (p.Tyr111Ter) rs1683047204
NM_003896.4(ST3GAL5):c.337C>T (p.Gln113Ter)
NM_003896.4(ST3GAL5):c.353del (p.Lys118fs) rs754643632
NM_003896.4(ST3GAL5):c.359del (p.Cys120fs)
NM_003896.4(ST3GAL5):c.374_381del (p.Ala125fs)
NM_003896.4(ST3GAL5):c.422T>G (p.Leu141Ter)
NM_003896.4(ST3GAL5):c.538G>T (p.Glu180Ter)
NM_003896.4(ST3GAL5):c.567del (p.Lys190fs) rs2103959087
NM_003896.4(ST3GAL5):c.584G>C (p.Cys195Ser) rs886037930
NM_003896.4(ST3GAL5):c.694G>T (p.Glu232Ter)
NM_003896.4(ST3GAL5):c.794del (p.Leu265fs) rs1444819796
NM_003896.4(ST3GAL5):c.895dup (p.Ile299fs)

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