List of variants reported as likely pathogenic for Bloom syndrome by Baylor Genetics

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

Total variants: 95

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HGVS	dbSNP	gnomAD frequency
NM_000057.4(BLM):c.3558+1G>T	rs148969222	0.00005
NM_000057.4(BLM):c.3210+2del	rs587779886	0.00003
NM_000057.4(BLM):c.98+1G>C	rs750293380	0.00003
NM_000057.4(BLM):c.670C>T (p.Gln224Ter)	rs918752814	0.00002
NM_000057.4(BLM):c.1154del (p.Thr385fs)	rs1409782833	0.00001
NM_000057.4(BLM):c.1301C>G (p.Ser434Ter)	rs754203833	0.00001
NM_000057.4(BLM):c.2015A>G (p.Gln672Arg)	rs747281324	0.00001
NM_000057.4(BLM):c.2407T>C (p.Trp803Arg)	rs148394770	0.00001
NM_000057.4(BLM):c.2823+2T>A	rs1896712920	0.00001
NM_000057.4(BLM):c.3163T>C (p.Cys1055Arg)	rs746218707	0.00001
NM_000057.4(BLM):c.3222_3223del (p.Asp1076fs)	rs1555423753	0.00001
NM_000057.4(BLM):c.3359-2A>G	rs1243923870	0.00001
NM_000057.4(BLM):c.3667dup (p.Thr1223fs)	rs1057517154	0.00001
NM_000057.4(BLM):c.1087+1G>A	rs1179486581
NM_000057.4(BLM):c.1087+1G>T	rs1179486581
NM_000057.4(BLM):c.1088-1G>A	rs1555419696
NM_000057.4(BLM):c.1220+1G>T	rs1555419748
NM_000057.4(BLM):c.1220+2T>G	rs1369220541
NM_000057.4(BLM):c.1221-2A>C	rs1555419779
NM_000057.4(BLM):c.1237G>T (p.Glu413Ter)	rs887921909
NM_000057.4(BLM):c.1399dup (p.Asp467fs)	rs1555419862
NM_000057.4(BLM):c.1429_1432del (p.Thr477fs)	rs1555419873
NM_000057.4(BLM):c.1430_1431del (p.Thr477fs)	rs2505425503
NM_000057.4(BLM):c.1450A>T (p.Lys484Ter)	rs2505425763
NM_000057.4(BLM):c.1487del (p.Leu496fs)	rs2151158316
NM_000057.4(BLM):c.1515G>A (p.Trp505Ter)	rs1286401716
NM_000057.4(BLM):c.1545del (p.Asn515fs)	rs2505426939
NM_000057.4(BLM):c.1622del (p.Asn541fs)	rs2505427549
NM_000057.4(BLM):c.1632_1635del (p.Arg545fs)	rs1205301894
NM_000057.4(BLM):c.1740del (p.Thr581fs)	rs1057517432
NM_000057.4(BLM):c.1882+2T>C	rs2505429939
NM_000057.4(BLM):c.1889C>G (p.Ser630Ter)	rs2151160492
NM_000057.4(BLM):c.1894C>T (p.Gln632Ter)	rs746857727
NM_000057.4(BLM):c.1953_1956del (p.His651fs)	rs2505434766
NM_000057.4(BLM):c.2023dup (p.Ala675fs)	rs2505435138
NM_000057.4(BLM):c.2086_2087del (p.Ser696fs)	rs2505441027
NM_000057.4(BLM):c.213_214del (p.Ser72fs)	rs960430492
NM_000057.4(BLM):c.2145del (p.Pro715_Leu716insTer)	rs757221938
NM_000057.4(BLM):c.2181_2188del (p.Thr728fs)	rs2505441838
NM_000057.4(BLM):c.2268del (p.Asp757fs)	rs747341586
NM_000057.4(BLM):c.2291_2292del (p.Tyr764fs)	rs1555420602
NM_000057.4(BLM):c.2349_2350del (p.Leu783_Tyr784insTer)	rs1555420844
NM_000057.4(BLM):c.2404_2407del (p.Gln802fs)	rs1567045235
NM_000057.4(BLM):c.2407-2A>G	rs2151166047
NM_000057.4(BLM):c.2410G>T (p.Gly804Ter)	rs1412341951
NM_000057.4(BLM):c.2516del (p.Lys839fs)	rs2505457182
NM_000057.4(BLM):c.2522T>C (p.Ile841Thr)	rs767086502
NM_000057.4(BLM):c.2555+1G>A	rs1555420917
NM_000057.4(BLM):c.2595T>A (p.Tyr865Ter)	rs1060503989
NM_000057.4(BLM):c.2603del (p.Pro868fs)	rs2505495426
NM_000057.4(BLM):c.2642G>A (p.Trp881Ter)	rs2505495712
NM_000057.4(BLM):c.2654_2660delinsTG (p.His885fs)	rs2505495794
NM_000057.4(BLM):c.2662+2T>G	rs1567052324
NM_000057.4(BLM):c.2663-1G>A	rs1444037196
NM_000057.4(BLM):c.2677dup (p.Ile893fs)	rs2505501266
NM_000057.4(BLM):c.2756del (p.His919fs)	rs2505501858
NM_000057.4(BLM):c.2918dup (p.Tyr973Ter)	rs2505516486
NM_000057.4(BLM):c.299dup (p.Arg101fs)	rs768777000
NM_000057.4(BLM):c.3007A>T (p.Arg1003Ter)	rs2505517110
NM_000057.4(BLM):c.303_304del (p.Gly102fs)	rs1489224386
NM_000057.4(BLM):c.3210+1G>A	rs2505525790
NM_000057.4(BLM):c.3265del (p.Gln1089fs)	rs2505534618
NM_000057.4(BLM):c.3343del (p.Val1115fs)	rs2505535024
NM_000057.4(BLM):c.3358+1G>A	rs1214154774
NM_000057.4(BLM):c.3358+1G>T	rs1214154774
NM_000057.4(BLM):c.3359-1G>A	rs2505546593
NM_000057.4(BLM):c.3421delinsTTTTT (p.Asn1141fs)	rs2505546989
NM_000057.4(BLM):c.3427G>T (p.Glu1143Ter)	rs140387675
NM_000057.4(BLM):c.3437_3438del (p.Leu1145_Phe1146insTer)	rs770592505
NM_000057.4(BLM):c.3504dup (p.Ala1169fs)	rs2505547571
NM_000057.4(BLM):c.3611T>G (p.Leu1204Ter)	rs2505549800
NM_000057.4(BLM):c.3678C>A (p.Cys1226Ter)	rs1897236255
NM_000057.4(BLM):c.3845del (p.Leu1282fs)	rs1897350204
NM_000057.4(BLM):c.3863G>A (p.Trp1288Ter)	rs2151198389
NM_000057.4(BLM):c.3866dup (p.Ser1290fs)	rs2505561919
NM_000057.4(BLM):c.3874+2T>C	rs1555424890
NM_000057.4(BLM):c.3975C>A (p.Tyr1325Ter)	rs2151199869
NM_000057.4(BLM):c.418G>T (p.Glu140Ter)	rs2151147324
NM_000057.4(BLM):c.516del (p.Gln174fs)	rs2505393049
NM_000057.4(BLM):c.550C>T (p.Gln184Ter)	rs971200482
NM_000057.4(BLM):c.646G>T (p.Glu216Ter)	rs779934502
NM_000057.4(BLM):c.709del (p.Cys237fs)	rs1217879599
NM_000057.4(BLM):c.729del (p.Ile243fs)	rs2505394659
NM_000057.4(BLM):c.746del (p.Asn249fs)	rs1043718482
NM_000057.4(BLM):c.74T>G (p.Leu25Ter)	rs1895534883
NM_000057.4(BLM):c.75_78del (p.Leu25fs)	rs2505385125
NM_000057.4(BLM):c.800-2A>G	rs1895690125
NM_000057.4(BLM):c.804_805del (p.Asn268fs)	rs2505399445
NM_000057.4(BLM):c.855del (p.Val286fs)	rs2151149598
NM_000057.4(BLM):c.8_9dup (p.Val4fs)	rs2505384718
NM_000057.4(BLM):c.959+1_959+9del	rs765061205
NM_000057.4(BLM):c.960-1G>A	rs1596223715
NM_000057.4(BLM):c.960-2A>C	rs1286600850
NM_000057.4(BLM):c.960-2A>G	rs1286600850
NM_000057.4:c.959+2_959+3insAlu

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