ClinVar Miner

List of variants in gene combination ERCC6, LOC126860933 reported as benign for age related macular degeneration, susceptibility to

Included ClinVar conditions (9):

Afibrinogenemia; Atypical hemolytic-uremic syndrome with I factor anomaly; Age related macular degeneration 13
Age related macular degeneration 13
Age related macular degeneration 15
Age related macular degeneration 5
Atypical hemolytic-uremic syndrome with I factor anomaly; Age related macular degeneration 13; Factor I deficiency
Complement component 9 deficiency; Age related macular degeneration 15
DE SANCTIS-CACCHIONE SYNDROME; Cerebrooculofacioskeletal syndrome 1; Cockayne syndrome type 2; Lung carcinoma; UV-sensitive syndrome 1; Age related macular degeneration 5; Premature ovarian failure 11
DE SANCTIS-CACCHIONE SYNDROME; Cerebrooculofacioskeletal syndrome 1; Cockayne syndrome type 2; UV-sensitive syndrome 1; Age related macular degeneration 5; Premature ovarian failure 11; Lung cancer
Macular degeneration, age-related, 13, susceptibility to

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: 2

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HGVS	dbSNP	gnomAD frequency
NM_000124.4(ERCC6):c.2825C>T (p.Thr942Met)	rs2228525	0.01573
NM_000124.4(ERCC6):c.2875G>T (p.Val959Leu)	rs190863815	0.00075

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