ClinVar Miner

List of variants studied for Orofacial-digital syndrome III

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_001077418.3(TMEM231):c.373C>G (p.Pro125Ala) rs1442638461 0.00008
NM_001408.3(CELSR2):c.8235_8246dup (p.Glu2749_Glu2752dup) rs773722162
NM_003611.3(OFD1):c.1246del (p.Gln416fs) rs886039813

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