List of variants in gene CFAP74 reported as pathogenic for Ciliary dyskinesia, primary, 49, without situs inversus

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_001304360.2(CFAP74):c.983G>A (p.Gly328Asp)	rs570149409	0.00003
NM_001304360.2(CFAP74):c.4331G>C (p.Ser1444Thr)	rs755467514	0.00001
NM_001304360.2(CFAP74):c.1706dup (p.Gly570fs)	rs761237701
NM_001304360.2(CFAP74):c.3532G>A (p.Asp1178Asn)	rs559543526
NM_001304360.2(CFAP74):c.4380_4381dup (p.Phe1461fs)	rs578234038
NM_001304360.2(CFAP74):c.652C>T (p.Arg218Trp)	rs533425606
NM_001304360.2(CFAP74):c.907del (p.Gln303fs)	rs1406976795

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