ClinVar Miner

List of variants in gene NUS1 reported as uncertain significance for congenital disorder of glycosylation type I

Included ClinVar conditions (31):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 6
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NM_138459.5(NUS1):c.198_199delinsAT (p.Arg67Cys) rs1562172820
NM_138459.5(NUS1):c.506C>G (p.Pro169Arg)
NM_138459.5(NUS1):c.640A>G (p.Lys214Glu)
NM_138459.5(NUS1):c.790G>A (p.Val264Ile) rs1562183021
NM_138459.5(NUS1):c.803C>A (p.Ser268Tyr) rs1554202852
NM_138459.5(NUS1):c.869G>A (p.Arg290His) rs886037858

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