List of variants in gene ERCC6 reported as benign for autosomal recessive disease

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

Total variants: 28

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HGVS	dbSNP	gnomAD frequency
NM_000124.4(ERCC6):c.1992+32A>G	rs4253162	0.85763
NM_000124.4(ERCC6):c.1821+7C>T	rs4253132	0.84443
NM_000124.4(ERCC6):c.135C>G (p.Leu45=)	rs2228524	0.62551
NM_000124.4(ERCC6):c.*379C>G	rs4253234	0.31692
NM_000124.4(ERCC6):c.3637A>G (p.Arg1213Gly)	rs2228527	0.19565
NM_000124.4(ERCC6):c.3289A>G (p.Met1097Val)	rs2228526	0.19072
NM_000124.4(ERCC6):c.4238A>G (p.Gln1413Arg)	rs2228529	0.18890
NM_000124.4(ERCC6):c.2382+33T>C	rs3750749	0.10128
NM_000124.4(ERCC6):c.*1830T>C	rs11101137	0.09932
NM_000124.4(ERCC6):c.*3823T>C	rs73297748	0.09918
NM_000124.4(ERCC6):c.*53T>C	rs4253231	0.09905
NM_000124.4(ERCC6):c.411G>A (p.Leu137=)	rs4253013	0.09896
NM_000124.4(ERCC6):c.*933G>A	rs3750751	0.07801
NM_000124.4(ERCC6):c.1964_1966del	rs147228327	0.06626
NM_000124.4(ERCC6):c.4322C>T (p.Thr1441Ile)	rs4253230	0.02217
NM_000124.4(ERCC6):c.528A>G (p.Arg176=)	rs4253027	0.01480
NM_000124.4(ERCC6):c.*2137A>G	rs114723899	0.01395
NM_000124.4(ERCC6):c.3177T>C (p.Ser1059=)	rs4253207	0.01168
NM_000124.4(ERCC6):c.*3395A>C	rs142122327	0.00812
NM_000124.4(ERCC6):c.1146G>A (p.Glu382=)	rs4253045	0.00681
NM_000124.4(ERCC6):c.*1872C>T	rs115281814	0.00673
NM_000124.4(ERCC6):c.3010C>T (p.Leu1004=)	rs2274097	0.00466
NM_000124.4(ERCC6):c.*1275C>G	rs182177140	0.00456
NM_000124.4(ERCC6):c.4114G>A (p.Gly1372Arg)	rs4253227	0.00363
NM_000124.4(ERCC6):c.3965G>T (p.Gly1322Val)	rs4253219	0.00009
NM_000124.4(ERCC6):c.*2946C>T	rs146529081
NM_000124.4(ERCC6):c.3689G>C (p.Arg1230Pro)	rs4253211
NM_000124.4(ERCC6):c.3774A>G (p.Lys1258=)	rs35756610

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