List of variants reported as uncertain significance for cutis laxa, autosomal dominant 1 by Illumina Laboratory Services, Illumina

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Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 30

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HGVS	dbSNP	gnomAD frequency
NM_000501.4(ELN):c.*238C>T	rs546341976	0.00038
NM_000501.4(ELN):c.1909G>A (p.Ala637Thr)	rs536177240	0.00026
NM_000501.4(ELN):c.*95C>T	rs181078432	0.00019
NM_000501.4(ELN):c.*489G>T	rs886062432	0.00014
NM_000501.4(ELN):c.1339G>A (p.Ala447Thr)	rs139335797	0.00013
NM_000501.4(ELN):c.35G>T (p.Gly12Val)	rs367634266	0.00012
NM_000501.4(ELN):c.*570G>A	rs565400803	0.00010
NM_000501.4(ELN):c.*532C>T	rs939778506	0.00009
NM_000501.4(ELN):c.*591C>T	rs782460313	0.00009
NM_000501.4(ELN):c.*644G>A	rs759507028	0.00008
NM_000501.4(ELN):c.*629T>C	rs776424755	0.00006
NM_000501.4(ELN):c.*664G>A	rs952638605	0.00004
NM_000501.4(ELN):c.*663C>T	rs886062433	0.00003
NM_000501.4(ELN):c.*794C>T	rs185988110	0.00003
NM_000501.4(ELN):c.*251C>T	rs886062430	0.00002
NM_000501.4(ELN):c.*631C>T	rs1168466814	0.00002
NM_000501.4(ELN):c.*997G>T	rs886062434	0.00002
NM_000501.4(ELN):c.1097-8C>G	rs781785100	0.00002
NM_000501.4(ELN):c.133+6G>A	rs1216357938	0.00002
NM_000501.4(ELN):c.1470T>C (p.Gly490=)	rs576324025	0.00001
NM_000501.4(ELN):c.1606G>T (p.Ala536Ser)	rs374253638	0.00001
NM_000501.4(ELN):c.*102C>T	rs1464325009
NM_000501.4(ELN):c.*171C>T	rs781941957
NM_000501.4(ELN):c.*264C>A	rs1309771565
NM_000501.4(ELN):c.*358C>T	rs1489252176
NM_000501.4(ELN):c.*458C>T	rs886062431
NM_000501.4(ELN):c.*578T>C	rs1798608245
NM_000501.4(ELN):c.1941C>A (p.Leu647=)	rs782117709
NM_000501.4(ELN):c.483C>A (p.Pro161=)	rs150690195
NM_000501.4(ELN):c.717G>T (p.Ala239=)	rs782502253

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