List of variants in gene ELN reported as benign for Cutis laxa, autosomal dominant 1

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: 43

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HGVS	dbSNP	gnomAD frequency
NM_000501.4(ELN):c.1315+17C>T	rs2856728	0.79828
NM_000501.4(ELN):c.1414+24C>T	rs28763986	0.60222
NM_000501.4(ELN):c.*383T>G	rs184490734	0.00783
NM_000501.4(ELN):c.*548G>A	rs117454480	0.00696
NM_000501.4(ELN):c.1388A>G (p.Lys463Arg)	rs34945509	0.00505
NM_000501.4(ELN):c.*172G>A	rs56120764	0.00427
NM_000501.4(ELN):c.*1195C>T	rs115872030	0.00381
NM_000501.4(ELN):c.921A>G (p.Ala307=)	rs6979788	0.00327
NM_000501.4(ELN):c.1821G>C (p.Gly607=)	rs144835575	0.00109
NM_000501.4(ELN):c.259T>C (p.Phe87Leu)	rs140411170	0.00080
NM_000501.4(ELN):c.1232T>G (p.Val411Gly)	rs200180992	0.00073
NM_000501.4(ELN):c.212C>T (p.Ala71Val)	rs41350445	0.00073
NM_000501.4(ELN):c.1507G>A (p.Val503Met)	rs41523046	0.00057
NM_000501.4(ELN):c.470-10C>G	rs200663056	0.00053
NM_000501.4(ELN):c.278C>T (p.Pro93Leu)	rs181019457	0.00048
NM_000501.4(ELN):c.326G>A (p.Gly109Asp)	rs145519139	0.00040
NM_000501.4(ELN):c.366A>G (p.Gly122=)	rs61734587	0.00034
NM_000501.4(ELN):c.647G>T (p.Gly216Val)	rs145612009	0.00034
NM_000501.4(ELN):c.931G>A (p.Ala311Thr)	rs41376344	0.00034
NM_000501.4(ELN):c.1999C>T (p.Pro667Ser)	rs142316834	0.00031
NM_000501.4(ELN):c.*562A>C	rs539096901	0.00029
NM_000501.4(ELN):c.1994-7T>G	rs375277198	0.00020
NM_000501.4(ELN):c.1467C>T (p.Val489=)	rs200512332	0.00017
NM_000501.4(ELN):c.1338C>T (p.Ala446=)	rs146576615	0.00016
NM_000501.4(ELN):c.249C>T (p.Pro83=)	rs565001805	0.00016
NM_000501.4(ELN):c.232+3G>A	rs377172364	0.00015
NM_000501.4(ELN):c.1317C>T (p.Pro439=)	rs201861098	0.00014
NM_000501.4(ELN):c.1271G>A (p.Gly424Glu)	rs782725817	0.00010
NM_000501.4(ELN):c.460G>A (p.Val154Met)	rs145669576	0.00010
NM_000501.4(ELN):c.1234G>A (p.Gly412Arg)	rs375116795	0.00006
NM_000501.4(ELN):c.886G>A (p.Ala296Thr)	rs782335529	0.00006
NM_000501.4(ELN):c.1674C>T (p.Gly558=)	rs182784538	0.00004
NM_000501.4(ELN):c.2077C>T (p.Pro693Ser)	rs369804770	0.00004
NM_000501.4(ELN):c.2132-5T>A	rs539160518	0.00004
NM_000501.4(ELN):c.470-5G>A	rs368292481	0.00003
NM_000501.4(ELN):c.134-10C>G	rs782069123	0.00001
NM_000501.4(ELN):c.1640G>A (p.Gly547Asp)	rs150248865	0.00001
NM_000501.4(ELN):c.767C>T (p.Ala256Val)	rs782285456	0.00001
NM_000501.4(ELN):c.*636G>A	rs533779578
NM_000501.4(ELN):c.1269C>T (p.Val423=)	rs61734583
NM_000501.4(ELN):c.1741G>C (p.Gly581Arg)	rs17855988
NM_000501.4(ELN):c.1819G>C (p.Gly607Arg)	rs781963804
NM_000501.4(ELN):c.328G>A (p.Ala110Thr)	rs137953195

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