List of variants in gene H3-3B reported as pathogenic for Bryant-Li-Bhoj neurodevelopmental syndrome 2

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_005324.5(H3-3B):c.155T>A (p.Ile52Asn)	rs2143630846
NM_005324.5(H3-3B):c.25C>T (p.Arg9Cys)	rs2061653458
NM_005324.5(H3-3B):c.365C>G (p.Pro122Arg)	rs2143629995
NM_005324.5(H3-3B):c.377A>G (p.Gln126Arg)	rs2143629984
NM_005324.5(H3-3B):c.88G>C (p.Ala30Pro)	rs2143631293

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