ClinVar Miner

List of variants in gene combination ARID1B, LOC115308161 reported as benign for Coffin-Siris syndrome 1

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Gene type:
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Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_001374828.1(ARID1B):c.612A>G (p.Gln204=) rs78253128 0.00509
NM_001374828.1(ARID1B):c.591GCA[9] (p.Gln213_Gln214dup) rs587779743

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