ClinVar Miner

List of variants studied for complex neurodevelopmental disorder by Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

Included ClinVar conditions (298):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_024818.6(UBA5):c.1111G>A (p.Ala371Thr) rs114925667 0.00169
NM_152743.4(BRAT1):c.294dup (p.Leu99fs) rs776913277 0.00022
NM_001032221.6(STXBP1):c.1099C>T (p.Arg367Ter) rs796053366
NM_001110792.2(MECP2):c.844C>T (p.Arg282Ter) rs61750240
NM_001127222.2(CACNA1A):c.6303+1G>A rs1600088360
NM_001323289.2(CDKL5):c.2842C>T (p.Arg948Ter) rs1555955296
NM_024818.6(UBA5):c.367_368insGA (p.Ala123fs)

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