ClinVar Miner

List of variants in gene LOC126860342, WRN studied for autosomal recessive disease

Included ClinVar conditions (1198):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 79
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HGVS dbSNP gnomAD frequency
NM_000553.6(WRN):c.4192-39T>C rs143460277 0.00208
NM_000553.6(WRN):c.4216C>T (p.Arg1406Ter) rs11574410 0.00118
NM_000553.6(WRN):c.4248T>C (p.Asp1416=) rs112024742 0.00053
NM_000553.6(WRN):c.4280G>C (p.Arg1427Thr) rs61751045 0.00006
NM_000553.6(WRN):c.4274C>T (p.Thr1425Met) rs143771120 0.00003
NM_000553.6(WRN):c.4203A>G (p.Ala1401=) rs777881622 0.00002
NM_000553.6(WRN):c.4217G>A (p.Arg1406Gln) rs758132889 0.00002
NM_000553.6(WRN):c.4223C>T (p.Pro1408Leu) rs764468799 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.4193C>T (p.Thr1398Ile) rs752795658 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.4228T>C (p.Trp1410Arg) rs768558349 0.00001
NM_000553.6(WRN):c.4229G>T (p.Trp1410Leu) rs780718250 0.00001
NM_000553.6(WRN):c.4240G>C (p.Gly1414Arg) rs747685773 0.00001
NM_000553.6(WRN):c.4242A>G (p.Gly1414=) rs1435342869 0.00001
NM_000553.6(WRN):c.4243A>G (p.Ser1415Gly) rs1436508029 0.00001
NM_000553.6(WRN):c.4245dup (p.Asp1416Ter) rs746732427 0.00001
NM_000553.6(WRN):c.4256A>C (p.Lys1419Thr) rs771261660 0.00001
NM_000553.6(WRN):c.4296T>G (p.Ser1432Arg) rs1457681720 0.00001
NC_000008.10:g.(?_30915954)_(31030628_?)dup
NC_000008.10:g.(?_30915958)_(31030624_?)dup
NC_000008.11:g.(?_31172985)_(31173112_?)del
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.4192-2A>T rs760110948
NM_000553.6(WRN):c.4192-3C>A rs1311481126
NM_000553.6(WRN):c.4192-3C>T rs1311481126
NM_000553.6(WRN):c.4192-9T>C
NM_000553.6(WRN):c.4192A>G (p.Thr1398Ala)
NM_000553.6(WRN):c.4194T>G (p.Thr1398=) rs756225803
NM_000553.6(WRN):c.4196C>T (p.Ser1399Leu)
NM_000553.6(WRN):c.4198T>G (p.Ser1400Ala)
NM_000553.6(WRN):c.4201G>A (p.Ala1401Thr)
NM_000553.6(WRN):c.4208G>T (p.Arg1403Ile)
NM_000553.6(WRN):c.4210_4213del (p.Lys1404fs) rs2130530010
NM_000553.6(WRN):c.4210_4215del (p.Lys1404_Arg1405del) rs1307086896
NM_000553.6(WRN):c.4213A>C (p.Arg1405=) rs2130530045
NM_000553.6(WRN):c.4217G>C (p.Arg1406Pro) rs758132889
NM_000553.6(WRN):c.4217_4222del (p.Arg1406_Leu1407del) rs2130530065
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.4225G>A (p.Val1409Met) rs1563396721
NM_000553.6(WRN):c.4226T>C (p.Val1409Ala)
NM_000553.6(WRN):c.4226T>G (p.Val1409Gly)
NM_000553.6(WRN):c.4231T>C (p.Phe1411Leu) rs1554539890
NM_000553.6(WRN):c.4236C>G (p.Ala1412=)
NM_000553.6(WRN):c.4240G>A (p.Gly1414Arg) rs747685773
NM_000553.6(WRN):c.4244G>A (p.Ser1415Asn)
NM_000553.6(WRN):c.4250C>A (p.Thr1417Asn) rs1804163340
NM_000553.6(WRN):c.4250C>G (p.Thr1417Ser)
NM_000553.6(WRN):c.4254C>T (p.Ser1418=)
NM_000553.6(WRN):c.4256A>G (p.Lys1419Arg) rs771261660
NM_000553.6(WRN):c.4263A>G (p.Leu1421=) rs2130530424
NM_000553.6(WRN):c.4271A>G (p.Lys1424Arg)
NM_000553.6(WRN):c.4275G>A (p.Thr1425=) rs753208401
NM_000553.6(WRN):c.4280G>A (p.Arg1427Lys) rs61751045
NM_000553.6(WRN):c.4281G>A (p.Arg1427=)
NM_000553.6(WRN):c.4281G>T (p.Arg1427Ser) rs1804164636
NM_000553.6(WRN):c.4282G>A (p.Gly1428Arg) rs2130530546
NM_000553.6(WRN):c.4284A>G (p.Gly1428=)
NM_000553.6(WRN):c.4284_4292del (p.Gly1429_Phe1431del)
NM_000553.6(WRN):c.4284del (p.Gly1429fs) rs2130530564
NM_000553.6(WRN):c.4285G>A (p.Gly1429Ser)
NM_000553.6(WRN):c.4286G>A (p.Gly1429Asp) rs1471724942
NM_000553.6(WRN):c.4288C>G (p.Leu1430Val)
NM_000553.6(WRN):c.4290T>C (p.Leu1430=) rs754076485
NM_000553.6(WRN):c.4292T>C (p.Phe1431Ser)
NM_000553.6(WRN):c.4293T>C (p.Phe1431=)
NM_000553.6(WRN):c.4293T>G (p.Phe1431Leu)
NM_000553.6(WRN):c.4294A>G (p.Ser1432Gly) rs1804165240

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