C0008780[trait identifier] AND "New Leaf Center"[submitter] - ClinVar - NCBI

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Items: 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1325693	NM_178821.3(DAW1):c.197T>A (p.Leu66Ter)	DAW1 (L51* +1 more)	Single nucleotide variant (nonsense +1 more)	Ciliary dyskinesia, primary, 52 +1 more	GPathogenic
Select item 1325691	NM_178821.3(DAW1):c.357G>A (p.Trp119Ter)	DAW1 (W104* +1 more)	Single nucleotide variant (nonsense +1 more)	Ciliary dyskinesia, primary, 52 +1 more	GPathogenic
Select item 1325631	NM_178821.3(DAW1):c.427A>G (p.Asn143Asp)	DAW1 (N128D +1 more)	Single nucleotide variant (missense variant +1 more)	Ciliary dyskinesia, primary, 52 +1 more	GPathogenic
Select item 1325692	NM_178821.3(DAW1):c.1091G>C (p.Ser364Thr)	DAW1 (S349T +1 more)	Single nucleotide variant (missense variant +1 more)	Ciliary dyskinesia, primary, 52 +1 more	GPathogenic
Select item 1325694	NM_178821.3(DAW1):c.1116G>T (p.Trp372Cys)	DAW1 (W357C +1 more)	Single nucleotide variant (missense variant +1 more)	Ciliary dyskinesia, primary, 52 +1 more	GPathogenic

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