ClinVar Miner

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

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 75
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HGVS dbSNP gnomAD frequency
NM_000057.4(BLM):c.2555+7T>C rs3815003 0.37072
NM_000057.4(BLM):c.3102G>A (p.Thr1034=) rs2227933 0.17570
NM_000057.4(BLM):c.3945C>T (p.Leu1315=) rs1063147 0.15526
NM_000057.4(BLM):c.3531C>A (p.Ala1177=) rs2227934 0.15517
NM_000057.4(BLM):c.3961G>A (p.Val1321Ile) rs7167216 0.08093
NM_000057.4(BLM):c.2603C>T (p.Pro868Leu) rs2227935 0.06742
NM_000057.4(BLM):c.419A>G (p.Glu140Gly) rs35886055 0.00958
NM_000057.4(BLM):c.*108C>T rs28363374 0.00823
NM_000057.4(BLM):c.2075-12G>T rs28385027 0.00541
NM_000057.4(BLM):c.3960C>T (p.Pro1320=) rs56009845 0.00502
NM_000057.4(BLM):c.4076+4T>G rs183176301 0.00436
NM_000057.4(BLM):c.3128C>A (p.Ala1043Asp) rs2229035 0.00421
NM_000057.4(BLM):c.1122T>C (p.His374=) rs28385009 0.00382
NM_000057.4(BLM):c.1722A>G (p.Leu574=) rs28385011 0.00379
NM_000057.4(BLM):c.893C>T (p.Thr298Met) rs28384991 0.00346
NM_000057.4(BLM):c.2160C>T (p.Ile720=) rs28385028 0.00303
NM_000057.4(BLM):c.1928G>A (p.Arg643His) rs12720097 0.00278
NM_000057.4(BLM):c.2075-14T>C rs28385026 0.00240
NM_000057.4(BLM):c.4077-10C>T rs145310008 0.00233
NM_000057.4(BLM):c.2119C>T (p.Pro707Ser) rs146077918 0.00172
NM_000057.4(BLM):c.2268A>G (p.Lys756=) rs146013879 0.00163
NM_000057.4(BLM):c.*77T>A rs116293756 0.00133
NM_000057.4(BLM):c.3849G>A (p.Gln1283=) rs140524886 0.00115
NM_000057.4(BLM):c.11T>C (p.Val4Ala) rs144706057 0.00102
NM_000057.4(BLM):c.3879A>G (p.Glu1293=) rs28377085 0.00098
NM_000057.4(BLM):c.3359-13A>G rs200250931 0.00093
NM_000057.4(BLM):c.3592G>A (p.Val1198Met) rs142928725 0.00090
NM_000057.4(BLM):c.2362C>A (p.Leu788Ile) rs149754073 0.00086
NM_000057.4(BLM):c.968A>G (p.Lys323Arg) rs146504061 0.00056
NM_000057.4(BLM):c.3020-15C>T rs200210516 0.00047
NM_000057.4(BLM):c.3798T>G (p.Val1266=) rs138831180 0.00043
NM_000057.4(BLM):c.1467G>A (p.Arg489=) rs56257041 0.00034
NM_000057.4(BLM):c.3041A>G (p.His1014Arg) rs145022945 0.00032
NM_000057.4(BLM):c.3625T>A (p.Ser1209Thr) rs1801256 0.00031
NM_000057.4(BLM):c.-65C>T rs577293550 0.00019
NM_000057.4(BLM):c.1642C>T (p.Gln548Ter) rs200389141 0.00017
NM_000057.4(BLM):c.3751+10C>T rs199685140 0.00016
NM_000057.4(BLM):c.-70G>T rs552669203 0.00013
NM_000057.4(BLM):c.3828G>A (p.Ala1276=) rs369383272 0.00013
NM_000057.4(BLM):c.4113G>A (p.Thr1371=) rs61754135 0.00013
NM_000057.4(BLM):c.*142T>C rs1040068612 0.00012
NM_000057.4(BLM):c.2333C>G (p.Ser778Cys) rs139610577 0.00012
NM_000057.4(BLM):c.1315A>G (p.Met439Val) rs201231857 0.00011
NM_000057.4(BLM):c.2839A>G (p.Ile947Val) rs189925962 0.00010
NM_000057.4(BLM):c.2293G>A (p.Val765Ile) rs191789336 0.00009
NM_000057.4(BLM):c.2739C>T (p.Leu913=) rs759223856 0.00009
NM_000057.4(BLM):c.178T>A (p.Leu60Ile) rs138542210 0.00007
NM_000057.4(BLM):c.2475G>A (p.Pro825=) rs147587050 0.00006
NM_000057.4(BLM):c.2898C>G (p.Leu966=) rs201220226 0.00006
NM_000057.4(BLM):c.3071A>G (p.Tyr1024Cys) rs201676342 0.00006
NM_000057.4(BLM):c.3558+1G>T rs148969222 0.00006
NM_000057.4(BLM):c.4126A>G (p.Ile1376Val) rs587779892 0.00006
NM_000057.4(BLM):c.2695C>T (p.Arg899Ter) rs587779884 0.00004
NM_000057.4(BLM):c.451A>G (p.Ile151Val) rs780472557 0.00004
NM_000057.4(BLM):c.847A>G (p.Thr283Ala) rs149598003 0.00004
NM_000057.4(BLM):c.-29C>T rs886051549 0.00003
NM_000057.4(BLM):c.1936A>G (p.Ser646Gly) rs370293537 0.00003
NM_000057.4(BLM):c.-59T>A rs1438250598 0.00001
NM_000057.4(BLM):c.1785A>T (p.Ser595=) rs79871543 0.00001
NM_000057.4(BLM):c.2211G>C (p.Leu737=) rs933356579 0.00001
NM_000057.4(BLM):c.2271C>G (p.Asp757Glu) rs773761682 0.00001
NM_000057.4(BLM):c.2490G>A (p.Thr830=) rs765233032 0.00001
NM_000057.4(BLM):c.2740G>A (p.Ala914Thr) rs372013507 0.00001
NM_000057.4(BLM):c.2744C>T (p.Ala915Val) rs775026151 0.00001
NM_000057.4(BLM):c.3933C>T (p.Ala1311=) rs756451802 0.00001
NM_000057.4(BLM):c.696C>A (p.Ser232Arg) rs201845548 0.00001
NM_000057.4(BLM):c.98+6T>G rs886051550 0.00001
NM_000057.4(BLM):c.-33G>C rs938444227
NM_000057.4(BLM):c.2206dup (p.Tyr736fs) rs886051551
NM_000057.4(BLM):c.2207_2212delinsTAGATTC (p.Tyr736fs) rs113993962
NM_000057.4(BLM):c.3418C>T (p.His1140Tyr) rs746602812
NM_000057.4(BLM):c.3827C>A (p.Ala1276Glu) rs760554566
NM_000057.4(BLM):c.3930T>G (p.Ser1310Arg) rs886051552
NM_000057.4(BLM):c.4251A>C (p.Ser1417=) rs886051553
NM_000057.4(BLM):c.436G>C (p.Asp146His) rs1895616204

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