ClinVar Miner

List of variants studied for complex neurodevelopmental disorder by Lyon Laboratory, Cold Spring Harbor Laboratory

Included ClinVar conditions (297):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_000228.3(LAMB3):c.133T>G (p.Ser45Ala) rs796051883
NM_014520.4(MYBBP1A):c.139C>T (p.Gln47Ter) rs758083465
Single allele

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