List of variants in gene ERCC6, LOC126860933 studied for Cockayne syndrome type 2

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: 16

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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.2825C>T (p.Thr942Met)	rs2228525	0.01573
NM_000124.4(ERCC6):c.2875G>T (p.Val959Leu)	rs190863815	0.00075
NM_000124.4(ERCC6):c.2741C>T (p.Thr914Met)	rs142580756	0.00052
NM_000124.4(ERCC6):c.2829+11A>T	rs777251839	0.00005
NM_000124.4(ERCC6):c.2839C>T (p.Arg947Ter)	rs906755254	0.00004
NM_000124.4(ERCC6):c.2776G>C (p.Ala926Pro)	rs765252538	0.00002
NM_000124.4(ERCC6):c.2923C>T (p.Arg975Ter)	rs772801089	0.00002
NM_000124.4(ERCC6):c.2830-2A>G	rs373227647	0.00001
NM_000124.4(ERCC6):c.2796T>A (p.Tyr932Ter)
NM_000124.4(ERCC6):c.2800C>A (p.Pro934Thr)	rs1554875536
NM_000124.4(ERCC6):c.2807G>A (p.Trp936Ter)	rs1283213117
NM_000124.4(ERCC6):c.2828A>C (p.Gln943Pro)
NM_000124.4(ERCC6):c.2846G>A (p.Trp949Ter)	rs1850797541
NM_000124.4(ERCC6):c.2881_2882insTCTTCGT (p.Arg961fs)
NM_000124.4(ERCC6):c.2905G>A (p.Glu969Lys)	rs886047035

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