ClinVar Miner

List of variants studied for Cockayne syndrome type 2 by Ocular Genomics Institute, Massachusetts Eye and Ear

Included ClinVar conditions (4):

Cockayne syndrome type 2
DE SANCTIS-CACCHIONE SYNDROME; Cerebrooculofacioskeletal syndrome 1; Cockayne syndrome type 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

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_000124.4(ERCC6):c.2125G>A (p.Val709Ile)	rs369437807	0.00007
NM_000124.4(ERCC6):c.2989A>G (p.Lys997Glu)	rs375181157	0.00005

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