List of variants in gene combination EYS, PHF3 reported as pathogenic by Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg

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: 6

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HGVS	dbSNP	gnomAD frequency
NM_001142800.2(EYS):c.9317_9336del (p.Thr3106fs)	rs1326370032	0.00003
NM_001142800.2(EYS):c.8648_8655del (p.Thr2883fs)	rs528919874
NM_001142800.2(EYS):c.9036del (p.Leu3013fs)	rs1225304963
NM_001142800.2(EYS):c.9079_9082del (p.Arg3027fs)	rs1427770112
NM_001142800.2(EYS):c.9100_9103del (p.Tyr3034fs)
NM_001142800.2(EYS):c.9349_9358del (p.Phe3117fs)

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