ClinVar Miner

List of variants in gene WRN reported as likely pathogenic

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Gene type:
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Total variants: 56
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HGVS dbSNP
NC_000008.10:g.(?_30966107)_(30974054_?)del
NC_000008.10:g.(?_30969285_30975255del
NC_000008.10:g.(?_30989976_30998629del
NC_000008.10:g.(?_31012248_31013983del
NC_000008.11:g.(?_31111605)_(31132516_?)del
NC_000008.11:g.(?_31150335)_(31167236_?)del
NC_000008.11:g.31059257_31099267del
NM_000553.6(WRN):c.1105C>T (p.Arg369Ter) rs17847577
NM_000553.6(WRN):c.1165del (p.Arg389fs) rs878854131
NM_000553.6(WRN):c.1350+1G>A
NM_000553.6(WRN):c.1351-1G>A rs1170732591
NM_000553.6(WRN):c.1351-1_1351delinsTT
NM_000553.6(WRN):c.1351-2A>G rs1563341296
NM_000553.6(WRN):c.1431+2T>C rs1455462438
NM_000553.6(WRN):c.1432-2A>T
NM_000553.6(WRN):c.1576+1dup
NM_000553.6(WRN):c.1578del (p.Leu528fs) rs780555196
NM_000553.6(WRN):c.1652+1G>A rs777096501
NM_000553.6(WRN):c.1653-2A>T
NM_000553.6(WRN):c.1720+5G>A
NM_000553.6(WRN):c.1822C>T (p.Gln608Ter)
NM_000553.6(WRN):c.1898+2T>G rs772319506
NM_000553.6(WRN):c.2089-1G>C
NM_000553.6(WRN):c.210-1G>A rs758988621
NM_000553.6(WRN):c.2245_2448+1213del
NM_000553.6(WRN):c.2273+1G>A
NM_000553.6(WRN):c.2416del (p.Ile806fs)
NM_000553.6(WRN):c.2449-2A>C rs1585483030
NM_000553.6(WRN):c.2732+1G>C
NM_000553.6(WRN):c.2922_2968-316del
NM_000553.6(WRN):c.2959C>T (p.Arg987Ter) rs747319628
NM_000553.6(WRN):c.2967+1G>A
NM_000553.6(WRN):c.2968-1G>A
NM_000553.6(WRN):c.3233+1G>C rs1563376793
NM_000553.6(WRN):c.3309+1G>A rs1281075870
NM_000553.6(WRN):c.3309+1G>T
NM_000553.6(WRN):c.3381_3383+76del rs1585517902
NM_000553.6(WRN):c.3384-1G>A rs776963381
NM_000553.6(WRN):c.348del (p.Met117fs) rs1563329555
NM_000553.6(WRN):c.353dup (p.Val119fs)
NM_000553.6(WRN):c.355+1G>T
NM_000553.6(WRN):c.3819+1G>A rs748618811
NM_000553.6(WRN):c.3819+1G>C
NM_000553.6(WRN):c.3820-1G>A
NM_000553.6(WRN):c.3820-2A>C
NM_000553.6(WRN):c.3820-2A>G
NM_000553.6(WRN):c.3982+1G>T
NM_000553.6(WRN):c.3983-1G>T rs752465293
NM_000553.6(WRN):c.487_488del (p.Asp163fs) rs797045118
NM_000553.6(WRN):c.504+1G>A
NM_000553.6(WRN):c.504+1G>T
NM_000553.6(WRN):c.561A>G (p.Lys187=) rs775802030
NM_000553.6(WRN):c.724+1G>A rs1339616347
NM_000553.6(WRN):c.724+1G>T rs1339616347
NM_000553.6(WRN):c.724_724+3del rs1554519449
NM_000553.6(WRN):c.97-1G>A

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