ClinVar Miner

List of variants studied for X-linked syndromic intellectual disability by Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine

Included ClinVar conditions (165):
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ClinVar version:
Total variants: 19
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HGVS dbSNP
NM_001110792.2(MECP2):c.844C>T (p.Arg282Ter) rs61750240
NM_002294.2(LAMP2):c.(?_398)-60_(741_?)+68del
NM_002294.2(LAMP2):c.(?_929)_(1233_?)del
NM_002294.2(LAMP2):c.1020del (p.Gly341fs) rs727504597
NM_002294.2(LAMP2):c.1093+1G>A rs727504742
NM_002294.2(LAMP2):c.121del (p.Cys41fs) rs727504600
NM_002294.2(LAMP2):c.128_129dup (p.Ala44fs) rs730880344
NM_002294.2(LAMP2):c.293G>A (p.Trp98Ter) rs397516740
NM_002294.2(LAMP2):c.294G>A (p.Trp98Ter) rs876657696
NM_002294.2(LAMP2):c.463del (p.Ser155fs) rs193922649
NM_002294.2(LAMP2):c.65-2A>G rs397516743
NM_002294.2(LAMP2):c.851_852del (p.Phe284fs) rs727504648
NM_002294.2(LAMP2):c.864+1G>T rs727503119
NM_002294.2(LAMP2):c.877C>T (p.Arg293Ter) rs727503118
NM_002294.2(LAMP2):c.912T>G (p.Tyr304Ter) rs876657648
NM_002294.2(LAMP2):c.928G>A (p.Val310Ile) rs104894858
NM_002294.2(LAMP2):c.929-1G>A rs727504262
NM_017547.4(FOXRED1):c.612_615dup (p.Ala206fs) rs398124308
NM_199069.2(NDUFAF3):c.180_181insT (p.Asp61Ter) rs752864722

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