ClinVar Miner

List of variants studied for 3M syndrome 3 by Fulgent Genetics, Fulgent Genetics

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Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_032040.5(CCDC8):c.1045G>C (p.Ala349Pro) rs28498765 0.01123
NM_032040.5(CCDC8):c.1094A>C (p.Asp365Ala) rs141966158 0.00001

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