ClinVar Miner

List of variants studied for Snijders Blok-Campeau syndrome by MGZ Medical Genetics Center

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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_001005273.3(CHD3):c.2656C>T (p.His886Tyr) rs2151569587
NM_001005273.3(CHD3):c.2975A>G (p.Gln992Arg)
NM_001005273.3(CHD3):c.3797G>A (p.Arg1266Gln)
NM_001005273.3(CHD3):c.4004G>A (p.Arg1335Gln)
NM_001005273.3(CHD3):c.4274T>C (p.Met1425Thr)

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