ClinVar Miner

List of variants studied for 3M syndrome 3 by Baylor Genetics

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_032040.5(CCDC8):c.43C>T (p.Arg15Trp) rs200189331 0.00022
NM_032040.5(CCDC8):c.287C>G (p.Thr96Arg) rs758816408 0.00003
NM_032040.5(CCDC8):c.803_807delinsT (p.Lys268fs) rs1973237748

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