ClinVar Miner

List of variants studied for Primary ciliary dyskinesia 7 by Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein

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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_001277115.2(DNAH11):c.3425+1_3425+4del	rs2534634118
NM_001277115.2(DNAH11):c.3601G>T (p.Glu1201Ter)	rs2534636903

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