ClinVar Miner

List of variants reported for Choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome by Fulgent Genetics, Fulgent Genetics

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_006701.5(TXNL4A):c.423C>T (p.Arg141=) rs143131944 0.00053
NM_006701.5(TXNL4A):c.74T>A (p.Val25Glu) rs142690672 0.00003
NC_000018.9:g.77733765C>A rs727502793

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