List of variants in gene CFAP300 reported as pathogenic for not provided

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Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 11

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HGVS	dbSNP	gnomAD frequency
NM_032930.3(CFAP300):c.313C>T (p.Gln105Ter)	rs2496335021	0.00002
NM_032930.3(CFAP300):c.433A>T (p.Arg145Ter)	rs754773453	0.00002
NM_032930.3(CFAP300):c.289G>T (p.Glu97Ter)	rs763307794	0.00001
NM_032930.3(CFAP300):c.361C>T (p.Arg121Ter)	rs561237622	0.00001
NM_032930.3(CFAP300):c.613C>T (p.Arg205Ter)	rs140641107	0.00001
NC_000011.9:g.(?_101918202)_(101918647_?)del
NM_032930.3(CFAP300):c.183_192+10del
NM_032930.3(CFAP300):c.198_200delinsCC (p.Phe67fs)	rs1555069023
NM_032930.3(CFAP300):c.430C>T (p.Arg144Ter)	rs762224876
NM_032930.3(CFAP300):c.478C>T (p.Gln160Ter)	rs2496352247
NM_032930.3(CFAP300):c.487A>T (p.Arg163Ter)

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