List of variants in gene ERCC6 reported as uncertain significance by CeGaT Center for Human Genetics Tuebingen

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 14

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HGVS	dbSNP	gnomAD frequency
NM_000124.4(ERCC6):c.4223A>C (p.Glu1408Ala)	rs61760167	0.00154
NM_000124.4(ERCC6):c.150G>A (p.Val50=)	rs80133923	0.00073
NM_000124.4(ERCC6):c.670C>T (p.Leu224Phe)	rs150935953	0.00025
NM_000124.4(ERCC6):c.1772C>T (p.Pro591Leu)	rs115876786	0.00024
NM_000124.4(ERCC6):c.4216G>A (p.Glu1406Lys)	rs145622432	0.00014
NM_000124.4(ERCC6):c.2335T>G (p.Phe779Val)	rs764456630	0.00004
NM_000124.4(ERCC6):c.352C>T (p.His118Tyr)	rs377708438	0.00004
NM_000124.4(ERCC6):c.4211G>A (p.Arg1404His)	rs755854972	0.00004
NM_000124.4(ERCC6):c.916G>T (p.Ala306Ser)	rs760618206	0.00002
NM_000124.4(ERCC6):c.1606T>C (p.Leu536=)	rs759447711	0.00001
NM_000124.4(ERCC6):c.1760C>T (p.Thr587Met)	rs767709344	0.00001
NM_000124.4(ERCC6):c.2013C>T (p.Ile671=)	rs546407915	0.00001
NM_000124.4(ERCC6):c.1762T>C (p.Trp588Arg)
NM_000124.4(ERCC6):c.233A>G (p.His78Arg)

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