ClinVar Miner

List of variants studied for Intellectual disability, autosomal recessive 66 by OMIM

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_020374.4(C12orf4):c.983T>C (p.Leu328Pro) rs1468772495 0.00005
NM_020374.4(FERRY3):c.1360C>T (p.Arg454Ter) rs749969789 0.00001
NM_020374.4(FERRY3):c.639_640insACAA (p.Gln214fs) rs730882197

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