ClinVar Miner

List of variants in gene NUS1 studied for autosomal dominant non-syndromic intellectual disability

Included ClinVar conditions (47):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 26
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HGVS dbSNP gnomAD frequency
NM_138459.5(NUS1):c.-16T>C rs9767451 0.94753
NM_138459.5(NUS1):c.506C>G (p.Pro169Arg) rs150646335 0.00116
NM_138459.5(NUS1):c.16G>C (p.Glu6Gln) rs1374617888 0.00001
NM_138459.5(NUS1):c.119G>A (p.Cys40Tyr)
NM_138459.5(NUS1):c.128_141del (p.Ala43fs)
NM_138459.5(NUS1):c.128_141dup (p.Val48fs) rs1554200722
NM_138459.5(NUS1):c.220_244del (p.Gly74fs)
NM_138459.5(NUS1):c.238_263del (p.Ala80fs) rs1582461267
NM_138459.5(NUS1):c.250C>G (p.Arg84Gly) rs750035599
NM_138459.5(NUS1):c.26G>A (p.Trp9Ter) rs2114674308
NM_138459.5(NUS1):c.328C>T (p.Gln110Ter)
NM_138459.5(NUS1):c.366GTG[1] (p.Trp123del)
NM_138459.5(NUS1):c.405C>G (p.Tyr135Ter)
NM_138459.5(NUS1):c.415+1G>A rs1772975334
NM_138459.5(NUS1):c.439A>T (p.Arg147Ter)
NM_138459.5(NUS1):c.472G>T (p.Glu158Ter)
NM_138459.5(NUS1):c.48_49del (p.Cys17fs)
NM_138459.5(NUS1):c.671A>G (p.Asp224Gly) rs2114687510
NM_138459.5(NUS1):c.677dup (p.Leu226fs)
NM_138459.5(NUS1):c.692-2A>G rs2114693876
NM_138459.5(NUS1):c.734G>T (p.Gly245Val) rs1773460199
NM_138459.5(NUS1):c.743del (p.Asp248fs) rs1554202698
NM_138459.5(NUS1):c.752T>G (p.Leu251Ter) rs1773460504
NM_138459.5(NUS1):c.791+6T>G
NM_138459.5(NUS1):c.869G>A (p.Arg290His) rs886037858
NM_138459.5(NUS1):c.99G>A (p.Trp33Ter) rs2114674415

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