ClinVar Miner

List of variants reported as likely pathogenic for 3M syndrome 3 by Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre

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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_032040.5(CCDC8):c.963del (p.Ala323fs)	rs746873023	0.00004
NM_032040.5(CCDC8):c.324_331del (p.Ser108fs)	rs2513602574

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