List of variants reported as likely pathogenic for Werner syndrome by Invitae

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

Total variants: 97

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HGVS	dbSNP	gnomAD frequency
NM_000553.6(WRN):c.3819+1G>A	rs748618811	0.00002
NM_000553.6(WRN):c.3820-2A>G	rs759685032	0.00002
NM_000553.6(WRN):c.1351-1G>A	rs1170732591	0.00001
NM_000553.6(WRN):c.1431+2T>C	rs1455462438	0.00001
NM_000553.6(WRN):c.1652+1G>A	rs777096501	0.00001
NM_000553.6(WRN):c.1829+5G>A	rs751015040	0.00001
NM_000553.6(WRN):c.1899-2A>T	rs1175230246	0.00001
NM_000553.6(WRN):c.209+5G>A	rs754208761	0.00001
NM_000553.6(WRN):c.3309+1G>A	rs1281075870	0.00001
NM_000553.6(WRN):c.3460-1G>A	rs1802899166	0.00001
NM_000553.6(WRN):c.355+1G>T	rs775196937	0.00001
NM_000553.6(WRN):c.3983-1G>T	rs752465293	0.00001
NM_000553.6(WRN):c.504+1G>T	rs1163988347	0.00001
NM_000553.6(WRN):c.97-1G>A	rs780988648	0.00001
NC_000008.10:g.(?_30941261)_(30947513_?)del
NC_000008.10:g.(?_30941261)_(30947629_?)del
NC_000008.10:g.(?_30966107)_(30974054_?)del
NC_000008.10:g.(?_30969285)_(30975255_?)del
NC_000008.10:g.(?_30977883)_(31003833_?)del
NC_000008.10:g.(?_30981889)_(30989970_?)del
NC_000008.10:g.(?_30989976)_(30998629_?)del
NC_000008.10:g.(?_31007847)_(31024756_?)del
NC_000008.10:g.(?_31012248)_(31013983_?)del
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.111G>C (p.Lys37Asn)
NM_000553.6(WRN):c.1350+1G>A	rs752202315
NM_000553.6(WRN):c.1350+1G>C
NM_000553.6(WRN):c.1350+1G>T	rs752202315
NM_000553.6(WRN):c.1351-1_1351delinsTT	rs1813480415
NM_000553.6(WRN):c.1351-2A>G	rs1563341296
NM_000553.6(WRN):c.1432-2A>T	rs1389423879
NM_000553.6(WRN):c.1432-2_1433del
NM_000553.6(WRN):c.1576+1G>A
NM_000553.6(WRN):c.1576+1dup	rs2130157703
NM_000553.6(WRN):c.1577-2A>G
NM_000553.6(WRN):c.1653-2A>G	rs1434118877
NM_000553.6(WRN):c.1653-2A>T	rs1434118877
NM_000553.6(WRN):c.1720+1G>T
NM_000553.6(WRN):c.1720+5G>A	rs1813707238
NM_000553.6(WRN):c.1721-1G>A
NM_000553.6(WRN):c.1829+2T>C
NM_000553.6(WRN):c.1898+2T>G	rs772319506
NM_000553.6(WRN):c.1981+1G>A
NM_000553.6(WRN):c.1981+1G>C	rs1814007969
NM_000553.6(WRN):c.2088+1G>T
NM_000553.6(WRN):c.2089-1G>C	rs2130282582
NM_000553.6(WRN):c.2245_2448+1213del
NM_000553.6(WRN):c.2273+1G>A	rs2130284894
NM_000553.6(WRN):c.2273+2T>C
NM_000553.6(WRN):c.2448+1G>A	rs2130306367
NM_000553.6(WRN):c.2448+1_2448+2insGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAGAGATGAAATTCAGG	rs2130306240
NM_000553.6(WRN):c.2449-2A>C	rs1585483030
NM_000553.6(WRN):c.2630+1G>A	rs1279240593
NM_000553.6(WRN):c.2732+1G>A	rs1047229701
NM_000553.6(WRN):c.2732+1G>C	rs1047229701
NM_000553.6(WRN):c.2733-1G>A	rs754056304
NM_000553.6(WRN):c.2733-1_2733del	rs1801859348
NM_000553.6(WRN):c.2826-1G>C	rs756880457
NM_000553.6(WRN):c.2922_2968-316del
NM_000553.6(WRN):c.2967+1G>A	rs1474054365
NM_000553.6(WRN):c.2968-1G>A	rs1300106191
NM_000553.6(WRN):c.2968-1G>C
NM_000553.6(WRN):c.3233+1G>C	rs1563376793
NM_000553.6(WRN):c.3234-1G>A	rs866300270
NM_000553.6(WRN):c.3234-2A>C	rs1554533006
NM_000553.6(WRN):c.3309+1G>T	rs1281075870
NM_000553.6(WRN):c.3309+2T>G
NM_000553.6(WRN):c.3381_3383+76del	rs1585517902
NM_000553.6(WRN):c.3459+1G>A
NM_000553.6(WRN):c.3459+2T>G	rs2130439413
NM_000553.6(WRN):c.3460-1G>C
NM_000553.6(WRN):c.3460-2A>G	rs281865159
NM_000553.6(WRN):c.3572+1G>T	rs2130441377
NM_000553.6(WRN):c.3687+2T>C
NM_000553.6(WRN):c.3688-2A>G	rs2130469632
NM_000553.6(WRN):c.3819+1G>C	rs748618811
NM_000553.6(WRN):c.3820-1G>A	rs1803425342
NM_000553.6(WRN):c.3820-2A>C	rs759685032
NM_000553.6(WRN):c.3982+1G>A	rs1381370500
NM_000553.6(WRN):c.3982+1G>C	rs1381370500
NM_000553.6(WRN):c.3982+1G>T	rs1381370500
NM_000553.6(WRN):c.504+1G>A	rs1163988347
NM_000553.6(WRN):c.505-1G>A
NM_000553.6(WRN):c.505-2A>G	rs2130048793
NM_000553.6(WRN):c.654+2T>C
NM_000553.6(WRN):c.724+513A>G
NM_000553.6(WRN):c.724+515A>G
NM_000553.6(WRN):c.724_724+3del	rs1554519449
NM_000553.6(WRN):c.725-1G>A
NM_000553.6(WRN):c.725-1G>C
NM_000553.6(WRN):c.725-2A>G
NM_000553.6(WRN):c.839+1G>A	rs2130095451
NM_000553.6(WRN):c.840-1G>C	rs1395775047
NM_000553.6(WRN):c.96+1G>A
NM_000553.6(WRN):c.96+1G>T

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