ClinVar Miner

List of variants reported as likely pathogenic by MOLECULAR BIOLOGY LABORATORY,INSTITUTO NACIONAL DE PEDIATRIA

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Total variants: 3
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HGVS dbSNP
NM_000202.8(IDS):c.1003C>T (p.His335Tyr) rs869025302
NM_000202.8(IDS):c.1025A>C (p.His342Pro) rs869025303
NM_000202.8(IDS):c.133G>C (p.Asp45His) rs869025301

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