ClinVar Miner

List of variants in gene LOC129934236, ST3GAL5 studied for GM3 synthase deficiency

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Total variants: 67
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HGVS dbSNP gnomAD frequency
NM_003896.3(ST3GAL5):c.-141T>C rs28364794 0.49269
NM_003896.3(ST3GAL5):c.-140C>A rs28364795 0.32699
NM_003896.4(ST3GAL5):c.37C>T (p.Pro13Ser) rs559756386 0.00354
NM_003896.3(ST3GAL5):c.-91G>A rs879798501 0.00197
NM_003896.4(ST3GAL5):c.66G>A (p.Ala22=) rs916185846 0.00011
NM_003896.4(ST3GAL5):c.11A>T (p.Lys4Met) rs1399913199 0.00005
NM_003896.4(ST3GAL5):c.7A>T (p.Thr3Ser) rs1441880596 0.00005
NM_003896.3(ST3GAL5):c.-95G>T rs1271027038 0.00004
NM_003896.4(ST3GAL5):c.20G>A (p.Gly7Asp) rs752086854 0.00003
NM_003896.4(ST3GAL5):c.82+5G>T rs1014430106 0.00003
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.70C>T (p.Pro24Ser) rs952271385 0.00001
NM_003896.4(ST3GAL5):c.82+1G>C rs878854615 0.00001
NM_003896.4(ST3GAL5):c.8C>A (p.Thr3Lys) rs913893607 0.00001
NM_003896.4(ST3GAL5):c.9G>T (p.Thr3=) rs1359970598 0.00001
NM_003896.3(ST3GAL5):c.-102G>C rs886056395
NM_003896.3(ST3GAL5):c.-103G>C rs947227790
NM_003896.3(ST3GAL5):c.-99G>A rs1045409068
NM_003896.4(ST3GAL5):c.-43G>T rs928733801
NM_003896.4(ST3GAL5):c.-53G>A rs886056394
NM_003896.4(ST3GAL5):c.10A>T (p.Lys4Ter)
NM_003896.4(ST3GAL5):c.15G>C (p.Ala5=)
NM_003896.4(ST3GAL5):c.16G>A (p.Ala6Thr) rs1688074283
NM_003896.4(ST3GAL5):c.18G>T (p.Ala6=)
NM_003896.4(ST3GAL5):c.20G>T (p.Gly7Val)
NM_003896.4(ST3GAL5):c.24C>T (p.Cys8=)
NM_003896.4(ST3GAL5):c.26C>G (p.Ala9Gly) rs1297672649
NM_003896.4(ST3GAL5):c.27G>A (p.Ala9=) rs2104282150
NM_003896.4(ST3GAL5):c.32_39del (p.Arg11fs) rs2104282063
NM_003896.4(ST3GAL5):c.34C>T (p.Arg12Cys) rs1688072283
NM_003896.4(ST3GAL5):c.36T>C (p.Arg12=) rs2104282104
NM_003896.4(ST3GAL5):c.37C>A (p.Pro13Thr) rs559756386
NM_003896.4(ST3GAL5):c.39C>T (p.Pro13=)
NM_003896.4(ST3GAL5):c.40C>T (p.Leu14=)
NM_003896.4(ST3GAL5):c.40dup (p.Leu14fs)
NM_003896.4(ST3GAL5):c.43C>A (p.Gln15Lys)
NM_003896.4(ST3GAL5):c.44A>G (p.Gln15Arg) rs1280213817
NM_003896.4(ST3GAL5):c.47_62del (p.Pro16fs)
NM_003896.4(ST3GAL5):c.48G>A (p.Pro16=) rs2104282001
NM_003896.4(ST3GAL5):c.4C>G (p.Arg2Gly) rs1688076303
NM_003896.4(ST3GAL5):c.4C>T (p.Arg2Trp) rs1688076303
NM_003896.4(ST3GAL5):c.51G>A (p.Arg17=)
NM_003896.4(ST3GAL5):c.5G>T (p.Arg2Leu) rs1469697796
NM_003896.4(ST3GAL5):c.63G>A (p.Ala21=) rs1255248442
NM_003896.4(ST3GAL5):c.64del (p.Ala22fs)
NM_003896.4(ST3GAL5):c.66G>T (p.Ala22=)
NM_003896.4(ST3GAL5):c.68C>T (p.Ala23Val) rs985025319
NM_003896.4(ST3GAL5):c.6G>A (p.Arg2=)
NM_003896.4(ST3GAL5):c.70C>A (p.Pro24Thr)
NM_003896.4(ST3GAL5):c.72T>A (p.Pro24=)
NM_003896.4(ST3GAL5):c.75C>G (p.Ala25=)
NM_003896.4(ST3GAL5):c.77G>C (p.Gly26Ala) rs1688068633
NM_003896.4(ST3GAL5):c.79C>T (p.Arg27Ter) rs1688068423
NM_003896.4(ST3GAL5):c.80G>A (p.Arg27Gln) rs1688068233
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+4C>T rs2104281726
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.8C>G (p.Thr3Arg) rs913893607
NM_003896.4(ST3GAL5):c.9G>A (p.Thr3=)

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