ClinVar Miner

List of variants studied for Cockayne syndrome type 2 by Juno Genomics, Hangzhou Juno Genomics, Inc

Included ClinVar conditions (6):

Cerebrooculofacioskeletal syndrome 1; Cockayne syndrome type 2
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
DE SANCTIS-CACCHIONE SYNDROME; Cerebrooculofacioskeletal syndrome 1; Cockayne syndrome type 2; UV-sensitive syndrome 1; Premature ovarian failure 11; Lung cancer

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
		ClinVar version:

Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_000124.4(ERCC6):c.1939G>A (p.Glu647Lys)	rs1163269726	0.00001
NM_000124.4(ERCC6):c.2481AGA[2] (p.Glu829del)	rs886047036
NM_000124.4(ERCC6):c.2828A>C (p.Gln943Pro)

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