List of variants in gene CFAP300 studied for ciliopathy

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 10

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HGVS	dbSNP	gnomAD frequency
NM_032930.3(CFAP300):c.192+59A>C	rs7934495	0.56242
NM_032930.3(CFAP300):c.433A>T (p.Arg145Ter)	rs754773453	0.00002
NM_032930.3(CFAP300):c.776A>G (p.His259Arg)	rs1555071691	0.00002
NM_032930.3(CFAP300):c.361C>T (p.Arg121Ter)	rs561237622	0.00001
NM_032930.3(CFAP300):c.110+16A>G	rs12804542
NM_032930.3(CFAP300):c.154C>T (p.Gln52Ter)	rs767760877
NM_032930.3(CFAP300):c.175A>T (p.Lys59Ter)
NM_032930.3(CFAP300):c.198_200delinsCC (p.Phe67fs)	rs1555069023
NM_032930.3(CFAP300):c.200del (p.Phe67fs)	rs745839898
NM_032930.3(CFAP300):c.430C>T (p.Arg144Ter)	rs762224876

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