ClinVar Miner

List of variants studied for Orofaciodigital syndrome

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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_015910.7(WDPCP):c.160G>A (p.Asp54Asn) rs200322968 0.00011
NM_001288615.3(TTC23):c.456-1G>T rs772970039 0.00001
NM_015910.7(WDPCP):c.526_527del (p.Leu176fs) rs1575420160
NM_153376.3(CCDC96):c.114_120dup (p.Gly41fs) rs1723504197
NM_183065.4(TMEM107):c.295TTC[1] (p.Phe100del) rs752171066

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