List of variants in gene combination EYS, PHF3 reported as pathogenic for Retinitis pigmentosa

Minimum submission review status:		Collection method:
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: 12

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HGVS	dbSNP	gnomAD frequency
NM_001142800.2(EYS):c.9209T>C (p.Ile3070Thr)	rs183589498	0.00013
NM_001142800.2(EYS):c.9392G>C (p.Gly3131Ala)	rs772888249	0.00006
NM_001142800.2(EYS):c.9405T>A (p.Tyr3135Ter)	rs137853190	0.00006
NM_001142800.2(EYS):c.8805C>A (p.Tyr2935Ter)	rs527236067	0.00002
NM_001370348.2(PHF3):c.8063_8068del	rs1296130120	0.00001
NM_001142800.2(EYS):c.8648_8655del (p.Thr2883fs)	rs528919874
NM_001142800.2(EYS):c.8793_8796del (p.Gln2931fs)	rs1554163919
NM_001142800.2(EYS):c.9182_9185del (p.Asn3061fs)
NM_001142800.2(EYS):c.9223_9232del (p.Asn3075fs)	rs1582139308
NM_001142800.2(EYS):c.9286_9295del (p.Val3096fs)	rs770748359
NM_001142800.2(EYS):c.9299_9302del (p.Thr3100fs)	rs769824975
NM_001142800.2(EYS):c.9376_9379del (p.Ile3127fs)	rs1166245419

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