ClinVar Miner

List of variants in gene NFIX reported as pathogenic for Marshall-Smith syndrome; Sotos syndrome 2

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Total variants: 7
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HGVS dbSNP
NC_000019.9:g.(?_13186329)_(13189569_?)dup
NC_000019.9:g.(?_13186349)_(13189549_?)del
NM_002501.4(NFIX):c.136A>T (p.Lys46Ter) rs1568268397
NM_002501.4(NFIX):c.232A>T (p.Lys78Ter)
NM_002501.4(NFIX):c.303dup (p.Cys102fs)
NM_002501.4(NFIX):c.358del (p.Leu120fs) rs1555696611
NM_002501.4(NFIX):c.43_49dup (p.Glu17fs)

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