ClinVar Miner

List of variants reported as pathogenic for congenital disorder of glycosylation, type IAA

Included ClinVar conditions (1):
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Total variants: 23
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HGVS dbSNP gnomAD frequency
NC_000006.11:g.(?_116441236)_(119252888_?)del
NC_000006.11:g.(?_117996834)_(117997268_?)del
NC_000006.11:g.(?_118014185)_(118014350_?)del
NM_138459.5(NUS1):c.110G>A (p.Trp37Ter)
NM_138459.5(NUS1):c.119_132dup (p.Ser45fs)
NM_138459.5(NUS1):c.15C>A (p.Tyr5Ter) rs1449400618
NM_138459.5(NUS1):c.225del (p.Ser76fs)
NM_138459.5(NUS1):c.234_280dup (p.Leu94fs)
NM_138459.5(NUS1):c.250dup (p.Arg84fs)
NM_138459.5(NUS1):c.368_372del (p.Trp123fs)
NM_138459.5(NUS1):c.378del (p.Val127fs)
NM_138459.5(NUS1):c.415+2T>G
NM_138459.5(NUS1):c.482del (p.Gly161fs)
NM_138459.5(NUS1):c.565A>T (p.Lys189Ter)
NM_138459.5(NUS1):c.695C>G (p.Ser232Ter)
NM_138459.5(NUS1):c.719T>G (p.Leu240Ter) rs2114693896
NM_138459.5(NUS1):c.74G>A (p.Trp25Ter) rs1772963498
NM_138459.5(NUS1):c.74_75delinsAA (p.Trp25Ter) rs2114674385
NM_138459.5(NUS1):c.765_769dup (p.His257fs) rs2114693926
NM_138459.5(NUS1):c.836_837dup (p.Ala280fs)
NM_138459.5(NUS1):c.869G>A (p.Arg290His) rs886037858
NM_138459.5(NUS1):c.94_101del (p.Thr32fs)
NM_138459.5(NUS1):c.99dup (p.Asn34fs) rs1582461023

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