ClinVar Miner

List of variants reported as likely pathogenic for X-linked syndromic intellectual disability by Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine

Included ClinVar conditions (165):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
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HGVS dbSNP
NM_002294.2(LAMP2):c.(?_398)-60_(741_?)+68del
NM_002294.2(LAMP2):c.(?_929)_(1233_?)del
NM_002294.2(LAMP2):c.128_129dup (p.Ala44fs) rs730880344
NM_002294.2(LAMP2):c.463del (p.Ser155fs) rs193922649
NM_002294.2(LAMP2):c.912T>G (p.Tyr304Ter) rs876657648
NM_002294.2(LAMP2):c.929-1G>A rs727504262
NM_017547.4(FOXRED1):c.612_615dup (p.Ala206fs) rs398124308

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