List of variants in gene PLK4 studied for chorioretinitis

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: 14

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HGVS	dbSNP	gnomAD frequency
NM_014264.5(PLK4):c.694T>A (p.Ser232Thr)	rs3811740	0.71105
NM_014264.5(PLK4):c.2109C>A (p.Ile703=)	rs74770705	0.00271
NM_014264.5(PLK4):c.926A>G (p.Lys309Arg)	rs543250835	0.00009
NM_014264.5(PLK4):c.1299_1303del (p.Phe433fs)	rs724159996	0.00003
NM_014264.5(PLK4):c.160G>A (p.Val54Ile)	rs771069245	0.00001
NM_014264.5(PLK4):c.1935+4A>T	rs758425287	0.00001
NM_014264.5(PLK4):c.2368G>A (p.Glu790Lys)	rs773200383	0.00001
NM_014264.5(PLK4):c.609A>G (p.Thr203=)	rs564323488	0.00001
NM_014264.5(PLK4):c.1177_1181del (p.Thr393fs)
NM_014264.5(PLK4):c.1658del (p.Pro553fs)
NM_014264.5(PLK4):c.176A>G (p.Asn59Ser)	rs1734999708
NM_014264.5(PLK4):c.2490G>T (p.Glu830Asp)	rs17012739
NM_014264.5(PLK4):c.2562+1G>C	rs1473460404
NM_014264.5(PLK4):c.2811-5C>G	rs724159995

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