ClinVar Miner

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

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Total variants: 15
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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.155T>A (p.Ile52Asn) rs2143630846
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.328C>G (p.Leu110Val) rs778316728
NM_005324.5(H3-3B):c.35C>T (p.Thr12Ile) rs2545911185
NM_005324.5(H3-3B):c.365C>G (p.Pro122Arg) rs2143629995
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.50C>A (p.Pro17His)
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.88G>C (p.Ala30Pro) rs2143631293
NM_005324.5(H3-3B):c.91C>T (p.Pro31Ser)

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