ClinVar Miner

List of variants reported as likely benign for Bloom syndrome

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Total variants: 54
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HGVS dbSNP
NM_000057.4(BLM):c.1088-38C>T
NM_000057.4(BLM):c.1088-39C>T
NM_000057.4(BLM):c.1088-40T>C
NM_000057.4(BLM):c.1122T>C (p.His374=) rs28385009
NM_000057.4(BLM):c.1296T>C (p.Pro432=) rs1555419811
NM_000057.4(BLM):c.1305T>C (p.Leu435=) rs778967807
NM_000057.4(BLM):c.1467G>A (p.Arg489=) rs56257041
NM_000057.4(BLM):c.1788A>G (p.Val596=) rs1555419972
NM_000057.4(BLM):c.201T>C (p.Val67=) rs563887813
NM_000057.4(BLM):c.204C>A (p.Thr68=) rs199927688
NM_000057.4(BLM):c.2070G>T (p.Pro690=) rs148078150
NM_000057.4(BLM):c.2074+56G>A
NM_000057.4(BLM):c.2106T>A (p.Pro702=) rs529421306
NM_000057.4(BLM):c.2119C>T (p.Pro707Ser) rs146077918
NM_000057.4(BLM):c.2210_2211insA (p.Thr738fs)
NM_000057.4(BLM):c.2212_2213insTTC (p.Thr738delinsIlePro)
NM_000057.4(BLM):c.2229C>T (p.Asp743=) rs889046632
NM_000057.4(BLM):c.2310C>T (p.Ile770=) rs759705000
NM_000057.4(BLM):c.254G>C (p.Arg85Thr) rs141503266
NM_000057.4(BLM):c.2603C>T (p.Pro868Leu) rs2227935
NM_000057.4(BLM):c.2709C>T (p.Thr903=) rs1555422522
NM_000057.4(BLM):c.2784T>C (p.Asp928=) rs1032746564
NM_000057.4(BLM):c.2838A>T (p.Thr946=) rs200850440
NM_000057.4(BLM):c.2871C>T (p.Asp957=) rs878853554
NM_000057.4(BLM):c.2898C>G (p.Leu966=) rs201220226
NM_000057.4(BLM):c.3019+17T>C
NM_000057.4(BLM):c.3102G>A (p.Thr1034=) rs2227933
NM_000057.4(BLM):c.3128C>A (p.Ala1043Asp) rs2229035
NM_000057.4(BLM):c.3358+7_3358+13del rs1555423799
NM_000057.4(BLM):c.3358+9T>C rs1555423800
NM_000057.4(BLM):c.342T>C (p.Thr114=) rs746257638
NM_000057.4(BLM):c.3447G>A (p.Leu1149=) rs1195487968
NM_000057.4(BLM):c.3531C>A (p.Ala1177=) rs2227934
NM_000057.4(BLM):c.3592G>A (p.Val1198Met) rs142928725
NM_000057.4(BLM):c.3613G>A (p.Val1205Ile) rs28385141
NM_000057.4(BLM):c.3747T>A (p.Leu1249=) rs776748831
NM_000057.4(BLM):c.3875-6T>C
NM_000057.4(BLM):c.3934G>A (p.Ala1312Thr) rs527291754
NM_000057.4(BLM):c.3945C>T (p.Leu1315=) rs1063147
NM_000057.4(BLM):c.3957A>T (p.Ile1319=) rs1555425082
NM_000057.4(BLM):c.3961G>A (p.Val1321Ile) rs7167216
NM_000057.4(BLM):c.4076+4T>G rs183176301
NM_000057.4(BLM):c.4077-10C>T rs145310008
NM_000057.4(BLM):c.4110A>G (p.Lys1370=) rs1555425406
NM_000057.4(BLM):c.4122C>T (p.Ser1374=) rs145277875
NM_000057.4(BLM):c.419A>G (p.Glu140Gly) rs35886055
NM_000057.4(BLM):c.4251A>C (p.Ser1417=) rs886051553
NM_000057.4(BLM):c.486T>C (p.Thr162=)
NM_000057.4(BLM):c.489T>C (p.Ser163=) rs781044650
NM_000057.4(BLM):c.702T>C (p.Asp234=) rs1271054585
NM_000057.4(BLM):c.861A>G (p.Pro287=) rs1555418666
NM_000057.4(BLM):c.893C>T (p.Thr298Met) rs28384991
NM_000057.4(BLM):c.963G>A (p.Thr321=)
NM_000057.4(BLM):c.99-9A>T rs1419730289

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