List of variants in gene ELN reported as likely benign for cutis laxa

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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: 21

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HGVS	dbSNP	gnomAD frequency
NM_000501.4(ELN):c.427+8C>T	rs55868272	0.01032
NM_000501.4(ELN):c.1622-13C>T	rs41362346	0.00728
NM_000501.4(ELN):c.*429C>T	rs62476387	0.00365
NM_000501.4(ELN):c.2132G>A (p.Gly711Asp)	rs41511151	0.00318
NM_000501.4(ELN):c.1828G>A (p.Gly610Ser)	rs140425210	0.00288
NM_000501.4(ELN):c.1566T>A (p.Gly522=)	rs61734584	0.00283
NM_000501.4(ELN):c.1861G>A (p.Ala621Thr)	rs150404125	0.00142
NM_000501.4(ELN):c.2109C>T (p.Phe703=)	rs149755814	0.00032
NM_000501.4(ELN):c.861G>A (p.Gly287=)	rs368610108	0.00024
NM_000501.4(ELN):c.381G>A (p.Ala127=)	rs148216123	0.00019
NM_000501.4(ELN):c.249C>T (p.Pro83=)	rs565001805	0.00016
NM_000501.4(ELN):c.710G>C (p.Gly237Ala)	rs934014841	0.00012
NM_000501.4(ELN):c.1825C>T (p.Leu609Phe)	rs200133966	0.00011
NM_000501.4(ELN):c.659C>T (p.Pro220Leu)	rs201012726	0.00006
NM_000501.4(ELN):c.473C>T (p.Ala158Val)	rs201137255	0.00005
NM_000501.4(ELN):c.478T>C (p.Phe160Leu)	rs781857513	0.00004
NM_000501.4(ELN):c.853G>A (p.Val285Met)	rs199709542	0.00004
NM_000501.4(ELN):c.2131+14C>T	rs782790041	0.00002
NM_000501.4(ELN):c.1281C>T (p.Pro427=)	rs376496267	0.00001
NM_000501.4(ELN):c.163+13A>G	rs782388951	0.00001
NM_000501.4(ELN):c.1269C>G (p.Val423=)	rs61734583

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