List of variants in gene ERCC6 reported by OMIM

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: 14

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HGVS	dbSNP	gnomAD frequency
NM_000124.4(ERCC6):c.3862C>T (p.Arg1288Ter)	rs185142838	0.00025
NM_000124.4(ERCC6):c.2203C>T (p.Arg735Ter)	rs121917901	0.00005
NM_000124.4(ERCC6):c.2047C>T (p.Arg683Ter)	rs121917904	0.00004
NM_000124.4(ERCC6):c.229C>T (p.Arg77Ter)	rs121917903	0.00001
NM_000124.4(ERCC6):c.1034_1035insT (p.Lys345fs)	rs1590474873
NM_000124.4(ERCC6):c.1518del (p.Lys506fs)	rs786205168
NM_000124.4(ERCC6):c.1550G>A (p.Trp517Ter)	rs121917900
NM_000124.4(ERCC6):c.1971_1974dup (p.Thr659fs)	rs2132552521
NM_000124.4(ERCC6):c.2254A>G (p.Met752Val)	rs1590413260
NM_000124.4(ERCC6):c.2960T>C (p.Leu987Pro)	rs121917905
NM_000124.4(ERCC6):c.3284C>G (p.Pro1095Arg)	rs4253208
NM_000124.4(ERCC6):c.3715_3716del (p.Lys1239fs)	rs758341467
NM_000124.4(ERCC6):c.643G>T (p.Glu215Ter)	rs875989810
NM_000124.4(ERCC6):c.972dup (p.Glu325fs)	rs387906262

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