ClinVar Miner

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

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 14
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NM_001122606.1(LAMP2):c.183T>A (p.Tyr61Ter) rs397516736
NM_001122606.1(LAMP2):c.183T>G (p.Tyr61Ter) rs397516736
NM_002294.2(LAMP2):c.128_129dupAT (p.Ala44Metfs) rs730880344
NM_002294.2(LAMP2):c.183+1G>A rs727503120
NM_002294.2(LAMP2):c.191delT (p.Val64Glufs) rs397516738
NM_002294.2(LAMP2):c.217_218insA (p.Thr73Asnfs) rs397516739
NM_002294.2(LAMP2):c.463delA (p.Ser155Valfs) rs193922649
NM_002294.2(LAMP2):c.864+3_864+6delGAGT rs397516751
NM_002294.2(LAMP2):c.865-1G>C rs397516752
NM_002294.2(LAMP2):c.912T>G (p.Tyr304Ter) rs876657648
NM_002294.2(LAMP2):c.929-1G>A rs727504262
NM_002294.2(LAMP2):c.999delA (p.Glu334Serfs) rs727504557

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