List of variants in gene H3-3B reported as likely 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: 10

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HGVS	dbSNP	gnomAD frequency
NM_005324.5(H3-3B):c.119A>G (p.His40Arg)	rs1555585486
NM_005324.5(H3-3B):c.11C>T (p.Thr4Ile)
NM_005324.5(H3-3B):c.23C>T (p.Ala8Val)	rs1555585522
NM_005324.5(H3-3B):c.25C>T (p.Arg9Cys)	rs2061653458
NM_005324.5(H3-3B):c.35C>T (p.Thr12Ile)	rs2545911185
NM_005324.5(H3-3B):c.376C>A (p.Gln126Lys)	rs2545910776
NM_005324.5(H3-3B):c.377A>G (p.Gln126Arg)	rs2143629984
NM_005324.5(H3-3B):c.52C>T (p.Arg18Cys)	rs2545911172
NM_005324.5(H3-3B):c.68C>G (p.Thr23Arg)	rs2143631320
NM_005324.5(H3-3B):c.91C>T (p.Pro31Ser)

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