ClinVar Miner

List of variants reported as likely pathogenic for Danon disease by Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
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NM_002294.3(LAMP2):c.912T>G (p.Tyr304Ter) rs876657648
NM_002294.3(LAMP2):c.929-1G>A rs727504262
NM_013995.2(LAMP2):c.128_129dup (p.Ala44fs) rs730880344
NM_013995.2(LAMP2):c.463del (p.Ser155fs) rs193922649

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