ClinVar Miner

List of variants in gene combination LOC129934236, ST3GAL5 reported as likely benign for GM3 synthase deficiency

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Total variants: 28
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HGVS dbSNP gnomAD frequency
NM_003896.4(ST3GAL5):c.66G>A (p.Ala22=) rs916185846 0.00011
NM_003896.4(ST3GAL5):c.15G>A (p.Ala5=) rs1688074501 0.00001
NM_003896.4(ST3GAL5):c.18G>A (p.Ala6=) rs988720177 0.00001
NM_003896.4(ST3GAL5):c.9G>T (p.Thr3=) rs1359970598 0.00001
NM_003896.4(ST3GAL5):c.15G>C (p.Ala5=)
NM_003896.4(ST3GAL5):c.18G>T (p.Ala6=)
NM_003896.4(ST3GAL5):c.24C>T (p.Cys8=)
NM_003896.4(ST3GAL5):c.27G>A (p.Ala9=) rs2104282150
NM_003896.4(ST3GAL5):c.36T>C (p.Arg12=) rs2104282104
NM_003896.4(ST3GAL5):c.39C>T (p.Pro13=)
NM_003896.4(ST3GAL5):c.40C>T (p.Leu14=)
NM_003896.4(ST3GAL5):c.48G>A (p.Pro16=) rs2104282001
NM_003896.4(ST3GAL5):c.51G>A (p.Arg17=)
NM_003896.4(ST3GAL5):c.63G>A (p.Ala21=) rs1255248442
NM_003896.4(ST3GAL5):c.66G>T (p.Ala22=)
NM_003896.4(ST3GAL5):c.6G>A (p.Arg2=)
NM_003896.4(ST3GAL5):c.72T>A (p.Pro24=)
NM_003896.4(ST3GAL5):c.75C>G (p.Ala25=)
NM_003896.4(ST3GAL5):c.82+10G>A
NM_003896.4(ST3GAL5):c.82+10G>T
NM_003896.4(ST3GAL5):c.82+10dup
NM_003896.4(ST3GAL5):c.82+15C>A
NM_003896.4(ST3GAL5):c.82+19T>C rs2104281541
NM_003896.4(ST3GAL5):c.82+20C>G
NM_003896.4(ST3GAL5):c.82+7G>A
NM_003896.4(ST3GAL5):c.82+7G>C
NM_003896.4(ST3GAL5):c.82+7G>T
NM_003896.4(ST3GAL5):c.9G>A (p.Thr3=)

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