ClinVar Miner

List of variants studied for 3M syndrome 3 by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_032040.5(CCDC8):c.1027C>T (p.Gln343Ter) rs559473497
NM_032040.5(CCDC8):c.3G>A (p.Met1Ile)
NM_032040.5(CCDC8):c.4_22dup (p.Val8fs)
NM_032040.5(CCDC8):c.860del (p.Gln287fs) rs778999067
NM_032040.5(CCDC8):c.976del (p.Asp326fs)

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