ClinVar Miner

List of variants studied for Segawa syndrome, autosomal recessive by Fulgent Genetics,Fulgent Genetics

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Total variants: 6
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NM_199292.3(TH):c.405+1G>A rs1554923802
NM_199292.3(TH):c.499G>A (p.Val167Met) rs142046543
NM_199292.3(TH):c.545T>C (p.Val182Ala) rs147569564
NM_199292.3(TH):c.678G>A (p.Ser226=)
NM_199292.3(TH):c.698G>A (p.Arg233His) rs80338892
NM_199292.3(TH):c.772G>A (p.Glu258Lys) rs536382000

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