ClinVar Miner

List of variants reported as likely pathogenic by Medical Genetics Unit,University of L'Aquila

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 2
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HGVS dbSNP
NM_001144769.3(DST):c.608C>A (p.Ala203Glu) rs201871537
NM_015548.5(DST):c.11476A>T (p.Lys3826Ter) rs1562435373

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