ClinVar Miner

List of variants in gene ERCC6, LOC126860933 studied for UV-sensitive syndrome

Included ClinVar conditions (6):

Cockayne syndrome type 1; UV-sensitive syndrome 2
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
UV-sensitive syndrome 1
UV-sensitive syndrome 2
UV-sensitive syndrome 3

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: 2

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HGVS	dbSNP	gnomAD frequency
NM_000124.4(ERCC6):c.2751C>T (p.Gly917=)	rs2229760	0.31596
NM_000124.4(ERCC6):c.2830-2A>G	rs373227647	0.00001

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