ClinVar Miner

List of variants studied for Bryant-Li-Bhoj neurodevelopmental syndrome 1 by Institute of Human Genetics, University of Leipzig Medical Center

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_002107.7(H3-3A):c.250C>G (p.Arg84Gly) rs1657904113
NM_002107.7(H3-3A):c.271G>C (p.Gly91Arg) rs2102737050

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