ClinVar Miner

List of variants studied for Bloom syndrome by Illumina Clinical Services Laboratory,Illumina

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ClinVar version:
Total variants: 75
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HGVS dbSNP
NM_000057.4(BLM):c.*108C>T rs28363374
NM_000057.4(BLM):c.*142T>C
NM_000057.4(BLM):c.*77T>A rs116293756
NM_000057.4(BLM):c.-29C>T rs886051549
NM_000057.4(BLM):c.-33G>C
NM_000057.4(BLM):c.-59T>A
NM_000057.4(BLM):c.-65C>T rs577293550
NM_000057.4(BLM):c.-70G>T rs552669203
NM_000057.4(BLM):c.1122T>C (p.His374=) rs28385009
NM_000057.4(BLM):c.11T>C (p.Val4Ala) rs144706057
NM_000057.4(BLM):c.1315A>G (p.Met439Val) rs201231857
NM_000057.4(BLM):c.1467G>A (p.Arg489=) rs56257041
NM_000057.4(BLM):c.1642C>T (p.Gln548Ter) rs200389141
NM_000057.4(BLM):c.1722A>G (p.Leu574=) rs28385011
NM_000057.4(BLM):c.1785A>T (p.Ser595=) rs79871543
NM_000057.4(BLM):c.178T>A (p.Leu60Ile) rs138542210
NM_000057.4(BLM):c.1928G>A (p.Arg643His) rs12720097
NM_000057.4(BLM):c.1936A>G (p.Ser646Gly) rs370293537
NM_000057.4(BLM):c.2075-12G>T rs28385027
NM_000057.4(BLM):c.2075-14T>C rs28385026
NM_000057.4(BLM):c.2119C>T (p.Pro707Ser) rs146077918
NM_000057.4(BLM):c.2160C>T (p.Ile720=) rs28385028
NM_000057.4(BLM):c.2206dup (p.Tyr736fs) rs886051551
NM_000057.4(BLM):c.2207_2212delinsTAGATTC (p.Tyr736fs) rs113993962
NM_000057.4(BLM):c.2211G>C (p.Leu737=)
NM_000057.4(BLM):c.2268A>G (p.Lys756=) rs146013879
NM_000057.4(BLM):c.2271C>G (p.Asp757Glu)
NM_000057.4(BLM):c.2293G>A (p.Val765Ile) rs191789336
NM_000057.4(BLM):c.2333C>G (p.Ser778Cys) rs139610577
NM_000057.4(BLM):c.2362C>A (p.Leu788Ile) rs149754073
NM_000057.4(BLM):c.2475G>A (p.Pro825=) rs147587050
NM_000057.4(BLM):c.2490G>A (p.Thr830=) rs765233032
NM_000057.4(BLM):c.2555+7T>C rs3815003
NM_000057.4(BLM):c.2603C>T (p.Pro868Leu) rs2227935
NM_000057.4(BLM):c.2695C>T (p.Arg899Ter) rs587779884
NM_000057.4(BLM):c.2739C>T (p.Leu913=) rs759223856
NM_000057.4(BLM):c.2740G>A (p.Ala914Thr) rs372013507
NM_000057.4(BLM):c.2744C>T (p.Ala915Val) rs775026151
NM_000057.4(BLM):c.2839A>G (p.Ile947Val) rs189925962
NM_000057.4(BLM):c.2898C>G (p.Leu966=) rs201220226
NM_000057.4(BLM):c.3020-15C>T
NM_000057.4(BLM):c.3041A>G (p.His1014Arg) rs145022945
NM_000057.4(BLM):c.3071A>G (p.Tyr1024Cys) rs201676342
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.3359-13A>G rs200250931
NM_000057.4(BLM):c.3418C>T (p.His1140Tyr) rs746602812
NM_000057.4(BLM):c.3531C>A (p.Ala1177=) rs2227934
NM_000057.4(BLM):c.3558+1G>T rs148969222
NM_000057.4(BLM):c.3592G>A (p.Val1198Met) rs142928725
NM_000057.4(BLM):c.3625T>A (p.Ser1209Thr) rs1801256
NM_000057.4(BLM):c.3751+10C>T rs199685140
NM_000057.4(BLM):c.3798T>G (p.Val1266=) rs138831180
NM_000057.4(BLM):c.3827C>A (p.Ala1276Glu) rs760554566
NM_000057.4(BLM):c.3828G>A (p.Ala1276=) rs369383272
NM_000057.4(BLM):c.3849G>A (p.Gln1283=) rs140524886
NM_000057.4(BLM):c.3879A>G (p.Glu1293=) rs28377085
NM_000057.4(BLM):c.3930T>G (p.Ser1310Arg) rs886051552
NM_000057.4(BLM):c.3933C>T (p.Ala1311=)
NM_000057.4(BLM):c.3945C>T (p.Leu1315=) rs1063147
NM_000057.4(BLM):c.3960C>T (p.Pro1320=) rs56009845
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.4113G>A (p.Thr1371=) rs61754135
NM_000057.4(BLM):c.4126A>G (p.Ile1376Val) rs587779892
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.436G>C (p.Asp146His)
NM_000057.4(BLM):c.451A>G (p.Ile151Val) rs780472557
NM_000057.4(BLM):c.696C>A (p.Ser232Arg) rs201845548
NM_000057.4(BLM):c.847A>G (p.Thr283Ala) rs149598003
NM_000057.4(BLM):c.893C>T (p.Thr298Met) rs28384991
NM_000057.4(BLM):c.968A>G (p.Lys323Arg) rs146504061
NM_000057.4(BLM):c.98+6T>G rs886051550

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