List of variants reported as pathogenic for Primary ciliary dyskinesia 22

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Total variants: 10

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HGVS	dbSNP	gnomAD frequency
NM_015896.4(ZMYND10):c.47T>G (p.Val16Gly)	rs138815960	0.00019
NM_015896.4(ZMYND10):c.797T>C (p.Leu266Pro)	rs200913791	0.00004
NM_015896.4(ZMYND10):c.490C>T (p.Gln164Ter)	rs376314608	0.00003
NM_015896.4(ZMYND10):c.967C>T (p.Gln323Ter)	rs397515460	0.00001
NM_015896.4(ZMYND10):c.300del (p.Phe101fs)	rs587777043
NM_015896.4(ZMYND10):c.31del (p.Glu11fs)
NM_015896.4(ZMYND10):c.486dup (p.Ser163fs)	rs587777044
NM_015896.4(ZMYND10):c.593_594del (p.Val198fs)	rs587777045
NM_015896.4(ZMYND10):c.700+2T>C
NM_015896.4(ZMYND10):c.747del (p.Ser250fs)	rs2109356853

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