List of variants in gene combination LOC126860342, WRN reported as likely benign for autosomal recessive disease

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: 30

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HGVS	dbSNP	gnomAD frequency
NM_000553.6(WRN):c.4216C>T (p.Arg1406Ter)	rs11574410	0.00118
NM_000553.6(WRN):c.4203A>G (p.Ala1401=)	rs777881622	0.00002
NM_000553.6(WRN):c.4251C>T (p.Thr1417=)	rs772748725	0.00002
NM_000553.6(WRN):c.4192-11A>G	rs766704571	0.00001
NM_000553.6(WRN):c.4192-4A>G	rs752010553	0.00001
NM_000553.6(WRN):c.4197A>T (p.Ser1399=)	rs1220777931	0.00001
NM_000553.6(WRN):c.4200T>G (p.Ser1400=)	rs1368036411	0.00001
NM_000553.6(WRN):c.4242A>G (p.Gly1414=)	rs1435342869	0.00001
NM_000553.6(WRN):c.4245dup (p.Asp1416Ter)	rs746732427	0.00001
NM_000553.6(WRN):c.4192-13C>A	rs763246492
NM_000553.6(WRN):c.4192-13C>G
NM_000553.6(WRN):c.4192-14dup	rs2130529810
NM_000553.6(WRN):c.4192-15_4192-12del	rs1236288066
NM_000553.6(WRN):c.4192-16T>A
NM_000553.6(WRN):c.4192-18T>C
NM_000553.6(WRN):c.4192-9T>C
NM_000553.6(WRN):c.4194T>G (p.Thr1398=)	rs756225803
NM_000553.6(WRN):c.4213A>C (p.Arg1405=)	rs2130530045
NM_000553.6(WRN):c.4218A>G (p.Arg1406=)
NM_000553.6(WRN):c.4219T>C (p.Leu1407=)	rs2130530116
NM_000553.6(WRN):c.4219_4220dup (p.Leu1407fs)
NM_000553.6(WRN):c.4224T>G (p.Pro1408=)	rs1804161611
NM_000553.6(WRN):c.4236C>G (p.Ala1412=)
NM_000553.6(WRN):c.4254C>T (p.Ser1418=)
NM_000553.6(WRN):c.4263A>G (p.Leu1421=)	rs2130530424
NM_000553.6(WRN):c.4275G>A (p.Thr1425=)	rs753208401
NM_000553.6(WRN):c.4281G>A (p.Arg1427=)
NM_000553.6(WRN):c.4284A>G (p.Gly1428=)
NM_000553.6(WRN):c.4290T>C (p.Leu1430=)	rs754076485
NM_000553.6(WRN):c.4293T>C (p.Phe1431=)

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