List of variants reported as pathogenic for Intellectual disability, autosomal dominant 55, with seizures

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Total variants: 17

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HGVS	dbSNP	gnomAD frequency
GRCh38/hg38 6q21-23.1(chr6:113857248-130442177)x1
NC_000006.12:g.(117676084_117693041)_(117693166_117694030)del
NM_138459.5(NUS1):c.128_141del (p.Ala43fs)	rs1554200722
NM_138459.5(NUS1):c.128_141dup (p.Val48fs)	rs1554200722
NM_138459.5(NUS1):c.238_263del (p.Ala80fs)	rs1582461267
NM_138459.5(NUS1):c.279del (p.Leu94fs)
NM_138459.5(NUS1):c.328C>T (p.Gln110Ter)	rs2481983720
NM_138459.5(NUS1):c.405C>G (p.Tyr135Ter)	rs1407880094
NM_138459.5(NUS1):c.415+1G>A	rs1772975334
NM_138459.5(NUS1):c.472G>T (p.Glu158Ter)	rs1773264504
NM_138459.5(NUS1):c.48_49del (p.Cys17fs)	rs2481982381
NM_138459.5(NUS1):c.647dup (p.Arg217fs)	rs2482016135
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	rs2482032266
NM_138459.5(NUS1):c.99G>A (p.Trp33Ter)	rs2114674415

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