ClinVar Miner

List of variants reported as uncertain significance for Bloom syndrome

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 440
Download table as spreadsheet
HGVS dbSNP
NC_000015.10:g.(?_90747387)_(90815285_?)dup
NC_000015.10:g.(?_90766904)_(90767029_?)del
NM_000057.3(BLM):c.*108C>T rs28363374
NM_000057.3(BLM):c.*77T>A rs116293756
NM_000057.3(BLM):c.-29C>T rs886051549
NM_000057.3(BLM):c.-65C>T rs577293550
NM_000057.3(BLM):c.-70G>T rs552669203
NM_000057.3(BLM):c.1006A>G (p.Ser336Gly)
NM_000057.3(BLM):c.1027T>G (p.Ser343Ala) rs776620199
NM_000057.3(BLM):c.1044G>T (p.Met348Ile)
NM_000057.3(BLM):c.1054G>A (p.Glu352Lys)
NM_000057.3(BLM):c.1064C>G (p.Pro355Arg) rs1022898915
NM_000057.3(BLM):c.1070C>T (p.Thr357Ile) rs1555419001
NM_000057.3(BLM):c.1087G>A (p.Ala363Thr) rs200364297
NM_000057.3(BLM):c.1088C>T (p.Ala363Val)
NM_000057.3(BLM):c.1091G>A (p.Arg364Lys)
NM_000057.3(BLM):c.1096A>C (p.Ile366Leu) rs552913880
NM_000057.3(BLM):c.1097T>C (p.Ile366Thr) rs571152089
NM_000057.3(BLM):c.1118T>A (p.Ile373Asn) rs1060500630
NM_000057.3(BLM):c.1121A>G (p.His374Arg) rs776225502
NM_000057.3(BLM):c.1132_1134delCACinsTAT (p.His378Tyr) rs1555419713
NM_000057.3(BLM):c.114A>G (p.Lys38=) rs770017301
NM_000057.3(BLM):c.1156A>G (p.Ile386Val)
NM_000057.3(BLM):c.1166A>G (p.Asp389Gly) rs1555419732
NM_000057.3(BLM):c.1195G>A (p.Glu399Lys) rs538728271
NM_000057.3(BLM):c.11T>C (p.Val4Ala) rs144706057
NM_000057.3(BLM):c.1201C>T (p.Leu401Phe) rs151150267
NM_000057.3(BLM):c.1210C>T (p.Arg404Trp) rs770721765
NM_000057.3(BLM):c.1211G>A (p.Arg404Gln) rs776516663
NM_000057.3(BLM):c.1216A>G (p.Ile406Val)
NM_000057.3(BLM):c.1221-6C>G rs1555419778
NM_000057.3(BLM):c.1223G>A (p.Arg408Lys) rs1338335954
NM_000057.3(BLM):c.1228C>T (p.Leu410Phe)
NM_000057.3(BLM):c.1231C>G (p.Leu411Val)
NM_000057.3(BLM):c.1235C>T (p.Thr412Met) rs775209685
NM_000057.3(BLM):c.1237G>A (p.Glu413Lys) rs887921909
NM_000057.3(BLM):c.124T>C (p.Ser42Pro) rs1291378382
NM_000057.3(BLM):c.1270_1272delCTT (p.Leu424del) rs777886082
NM_000057.3(BLM):c.129_130insTAT (p.Ser43_Asp44insTyr) rs778786003
NM_000057.3(BLM):c.1315A>G (p.Met439Val) rs201231857
NM_000057.3(BLM):c.1319A>G (p.Glu440Gly)
NM_000057.3(BLM):c.1331G>T (p.Cys444Phe) rs1555419834
NM_000057.3(BLM):c.1336A>T (p.Thr446Ser)
NM_000057.3(BLM):c.1346C>G (p.Ser449Cys) rs967698170
NM_000057.3(BLM):c.134A>G (p.Asn45Ser) rs1555418242
NM_000057.3(BLM):c.137A>G (p.Asn46Ser)
NM_000057.3(BLM):c.1388T>G (p.Val463Gly) rs1555419857
NM_000057.3(BLM):c.1397G>A (p.Gly466Glu)
NM_000057.3(BLM):c.13C>T (p.Pro5Ser)
NM_000057.3(BLM):c.1430C>T (p.Thr477Ile)
NM_000057.3(BLM):c.1432G>C (p.Gly478Arg) rs1490929990
NM_000057.3(BLM):c.1433G>C (p.Gly478Ala) rs759810567
NM_000057.3(BLM):c.1436T>G (p.Phe479Cys) rs1418071613
NM_000057.3(BLM):c.1437C>G (p.Phe479Leu)
NM_000057.3(BLM):c.1462G>A (p.Glu488Lys) rs1477193473
NM_000057.3(BLM):c.1467G>A (p.Arg489=) rs56257041
NM_000057.3(BLM):c.1468C>T (p.Pro490Ser)
NM_000057.3(BLM):c.1469C>G (p.Pro490Arg) rs878853553
NM_000057.3(BLM):c.1474T>C (p.Phe492Leu) rs764182382
NM_000057.3(BLM):c.1481C>T (p.Thr494Ile) rs751600686
NM_000057.3(BLM):c.1490A>C (p.Gln497Pro) rs368547042
NM_000057.3(BLM):c.1490A>G (p.Gln497Arg)
NM_000057.3(BLM):c.1495T>A (p.Ser499Thr) rs371965329
NM_000057.3(BLM):c.1496C>T (p.Ser499Phe) rs778700833
NM_000057.3(BLM):c.14C>T (p.Pro5Leu)
NM_000057.3(BLM):c.1505G>C (p.Ser502Thr) rs908599703
NM_000057.3(BLM):c.1515G>T (p.Trp505Cys) rs1286401716
NM_000057.3(BLM):c.1519G>A (p.Glu507Lys) rs192491153
NM_000057.3(BLM):c.1559T>C (p.Phe520Ser)
NM_000057.3(BLM):c.1568A>T (p.Asn523Ile)
NM_000057.3(BLM):c.157T>A (p.Ser53Thr) rs1555418248
NM_000057.3(BLM):c.1601A>G (p.Asn534Ser) rs35224686
NM_000057.3(BLM):c.1610C>A (p.Thr537Asn) rs1555419928
NM_000057.3(BLM):c.1613C>T (p.Ala538Val) rs778593808
NM_000057.3(BLM):c.1618A>G (p.Ile540Val) rs1060500641
NM_000057.3(BLM):c.1624G>T (p.Asp542Tyr) rs1555419932
NM_000057.3(BLM):c.1631A>G (p.Glu544Gly)
NM_000057.3(BLM):c.1634_1639del6 (p.Arg545_Glu546del) rs1555419934
NM_000057.3(BLM):c.1640C>T (p.Thr547Ile) rs758161226
NM_000057.3(BLM):c.1652A>G (p.Tyr551Cys) rs746571244
NM_000057.3(BLM):c.1688A>T (p.Asp563Val)
NM_000057.3(BLM):c.1691A>G (p.Asp564Gly) rs1555419944
NM_000057.3(BLM):c.1695_1697dup (p.Asp566_Trp567insAsp) rs768095141
NM_000057.3(BLM):c.1712T>C (p.Met571Thr) rs587778109
NM_000057.3(BLM):c.1730G>A (p.Ser577Asn)
NM_000057.3(BLM):c.1741A>G (p.Thr581Ala) rs587778108
NM_000057.3(BLM):c.1772G>A (p.Arg591Gln)
NM_000057.3(BLM):c.178T>A (p.Leu60Ile) rs138542210
NM_000057.3(BLM):c.1808C>G (p.Ala603Gly)
NM_000057.3(BLM):c.1825C>A (p.Pro609Thr) rs770255643
NM_000057.3(BLM):c.182G>T (p.Arg61Ile) rs1060500644
NM_000057.3(BLM):c.1838C>T (p.Thr613Ile)
NM_000057.3(BLM):c.1850T>C (p.Ile617Thr) rs868510206
NM_000057.3(BLM):c.1856_1858delTCT (p.Phe619del) rs1555419996
NM_000057.3(BLM):c.1863G>C (p.Glu621Asp) rs374965438
NM_000057.3(BLM):c.1864T>C (p.Ser622Pro)
NM_000057.3(BLM):c.1868T>C (p.Ile623Thr)
NM_000057.3(BLM):c.186T>G (p.Asn62Lys) rs146735953
NM_000057.3(BLM):c.1877A>T (p.Tyr626Phe) rs374569385
NM_000057.3(BLM):c.1881T>C (p.Thr627=) rs148678729
NM_000057.3(BLM):c.1888T>C (p.Ser630Pro)
NM_000057.3(BLM):c.1894C>A (p.Gln632Lys) rs746857727
NM_000057.3(BLM):c.1913A>C (p.Asn638Thr) rs587778110
NM_000057.3(BLM):c.1913A>G (p.Asn638Ser) rs587778110
NM_000057.3(BLM):c.191A>C (p.Asp64Ala) rs140382474
NM_000057.3(BLM):c.191A>T (p.Asp64Val) rs140382474
NM_000057.3(BLM):c.1924G>A (p.Glu642Lys) rs201458487
NM_000057.3(BLM):c.1927C>T (p.Arg643Cys) rs373090621
NM_000057.3(BLM):c.1928G>A (p.Arg643His) rs12720097
NM_000057.3(BLM):c.1934A>G (p.Gln645Arg) rs377563699
NM_000057.3(BLM):c.1936A>G (p.Ser646Gly) rs370293537
NM_000057.3(BLM):c.1940T>C (p.Leu647Pro) rs1555420162
NM_000057.3(BLM):c.1964T>C (p.Met655Thr) rs748567176
NM_000057.3(BLM):c.1967_1969delTGA (p.Met656del) rs1555420164
NM_000057.3(BLM):c.1972A>G (p.Ile658Val)
NM_000057.3(BLM):c.1973T>C (p.Ile658Thr)
NM_000057.3(BLM):c.1978C>T (p.His660Tyr) rs139688226
NM_000057.3(BLM):c.199G>A (p.Val67Ile)
NM_000057.3(BLM):c.2015A>G (p.Gln672Arg) rs747281324
NM_000057.3(BLM):c.2045G>A (p.Gly682Asp)
NM_000057.3(BLM):c.204C>A (p.Thr68=) rs199927688
NM_000057.3(BLM):c.2051A>C (p.Asp684Ala)
NM_000057.3(BLM):c.205G>A (p.Glu69Lys) rs746195311
NM_000057.3(BLM):c.2069C>T (p.Pro690Leu) rs761589072
NM_000057.3(BLM):c.208G>A (p.Asp70Asn) rs769957028
NM_000057.3(BLM):c.2122G>C (p.Gly708Arg) rs1555420390
NM_000057.3(BLM):c.2143C>T (p.Pro715Ser) rs1060500636
NM_000057.3(BLM):c.2150G>C (p.Arg717Thr) rs28406486
NM_000057.3(BLM):c.2155C>T (p.Leu719Phe) rs587779881
NM_000057.3(BLM):c.2160C>T (p.Ile720=) rs28385028
NM_000057.3(BLM):c.2161G>A (p.Val721Ile) rs559554788
NM_000057.3(BLM):c.2171T>C (p.Val724Ala)
NM_000057.3(BLM):c.2183C>G (p.Thr728Ser)
NM_000057.3(BLM):c.2194A>T (p.Ile732Phe) rs1555420546
NM_000057.3(BLM):c.2213C>G (p.Thr738Arg) rs1474290499
NM_000057.3(BLM):c.2237C>T (p.Ala746Val) rs769498533
NM_000057.3(BLM):c.2263A>G (p.Lys755Glu) rs142551229
NM_000057.3(BLM):c.2268A>G (p.Lys756=) rs146013879
NM_000057.3(BLM):c.226C>A (p.Pro76Thr) rs768843912
NM_000057.3(BLM):c.226C>T (p.Pro76Ser) rs768843912
NM_000057.3(BLM):c.2289A>G (p.Leu763=)
NM_000057.3(BLM):c.228_233del (p.Leu77_Pro78del) rs1555418278
NM_000057.3(BLM):c.229C>G (p.Leu77Val) rs1555418283
NM_000057.3(BLM):c.2302G>A (p.Glu768Lys) rs1060500640
NM_000057.3(BLM):c.2312G>A (p.Cys771Tyr) rs1555420831
NM_000057.3(BLM):c.2315C>T (p.Ala772Val)
NM_000057.3(BLM):c.2340G>A (p.Leu780=)
NM_000057.3(BLM):c.2351A>G (p.Tyr784Cys) rs753635754
NM_000057.3(BLM):c.2357G>A (p.Arg786Lys)
NM_000057.3(BLM):c.2360A>G (p.Lys787Arg)
NM_000057.3(BLM):c.2362C>G (p.Leu788Val)
NM_000057.3(BLM):c.2367G>C (p.Leu789Phe) rs1060500651
NM_000057.3(BLM):c.2371C>T (p.Arg791Cys) rs55880859
NM_000057.3(BLM):c.238A>G (p.Thr80Ala) rs1555418290
NM_000057.3(BLM):c.2407-5A>G rs1555420870
NM_000057.3(BLM):c.2407-7delC rs769184675
NM_000057.3(BLM):c.2407-9del rs747699258
NM_000057.3(BLM):c.241A>G (p.Thr81Ala) rs1060500637
NM_000057.3(BLM):c.2422C>T (p.Arg808Cys) rs759330541
NM_000057.3(BLM):c.2428G>C (p.Asp810His) rs765143263
NM_000057.3(BLM):c.2432A>G (p.Tyr811Cys) rs145029382
NM_000057.3(BLM):c.2434A>C (p.Lys812Gln) rs763827222
NM_000057.3(BLM):c.2452C>G (p.Arg818Gly) rs1279814185
NM_000057.3(BLM):c.2452C>T (p.Arg818Cys) rs1279814185
NM_000057.3(BLM):c.2453G>A (p.Arg818His) rs780514723
NM_000057.3(BLM):c.245A>G (p.Asn82Ser) rs1555418292
NM_000057.3(BLM):c.2474C>T (p.Pro825Leu) rs749632465
NM_000057.3(BLM):c.2475G>A (p.Pro825=) rs147587050
NM_000057.3(BLM):c.2480T>A (p.Met827Lys) rs748250819
NM_000057.3(BLM):c.248A>G (p.Gln83Arg) rs377192173
NM_000057.3(BLM):c.2490G>A (p.Thr830=) rs765233032
NM_000057.3(BLM):c.2497G>A (p.Ala833Thr)
NM_000057.3(BLM):c.24T>G (p.Asn8Lys) rs1060500635
NM_000057.3(BLM):c.2506A>G (p.Arg836Gly) rs577806633
NM_000057.3(BLM):c.2515A>G (p.Lys839Glu) rs201427280
NM_000057.3(BLM):c.2516A>G (p.Lys839Arg) rs756815062
NM_000057.3(BLM):c.2524C>A (p.Leu842Met) rs1209722688
NM_000057.3(BLM):c.2540T>G (p.Ile847Ser)
NM_000057.3(BLM):c.2552A>G (p.Gln851Arg) rs1454270314
NM_000057.3(BLM):c.2556-8T>C
NM_000057.3(BLM):c.2561G>A (p.Ser854Asn) rs758692622
NM_000057.3(BLM):c.2563A>G (p.Met855Val)
NM_000057.3(BLM):c.2570T>C (p.Phe857Ser)
NM_000057.3(BLM):c.2572A>G (p.Asn858Asp) rs1555422355
NM_000057.3(BLM):c.2594A>G (p.Tyr865Cys) rs777842626
NM_000057.3(BLM):c.2603C>G (p.Pro868Arg)
NM_000057.3(BLM):c.2605A>C (p.Lys869Gln) rs1555422363
NM_000057.3(BLM):c.2619G>C (p.Lys873Asn) rs146723808
NM_000057.3(BLM):c.2635C>G (p.Leu879Val)
NM_000057.3(BLM):c.2638G>C (p.Glu880Gln) rs201770808
NM_000057.3(BLM):c.2656C>A (p.His886Asn) rs765636566
NM_000057.3(BLM):c.2662T>C (p.Tyr888His) rs758696992
NM_000057.3(BLM):c.2663-5G>A rs1161787867
NM_000057.3(BLM):c.2672G>A (p.Gly891Glu) rs763471784
NM_000057.3(BLM):c.2674A>G (p.Ile892Val) rs764587569
NM_000057.3(BLM):c.267_269del (p.Phe90del) rs1555418301
NM_000057.3(BLM):c.2696G>A (p.Arg899Gln) rs748054605
NM_000057.3(BLM):c.2720C>T (p.Thr907Met) rs367953471
NM_000057.3(BLM):c.2726A>C (p.Gln909Pro)
NM_000057.3(BLM):c.2729G>C (p.Arg910Thr)
NM_000057.3(BLM):c.2739C>T (p.Leu913=) rs759223856
NM_000057.3(BLM):c.2740G>A (p.Ala914Thr) rs372013507
NM_000057.3(BLM):c.2744C>T (p.Ala915Val) rs775026151
NM_000057.3(BLM):c.2746C>G (p.Leu916Val) rs1424143421
NM_000057.3(BLM):c.274A>G (p.Asn92Asp) rs200690226
NM_000057.3(BLM):c.2768G>C (p.Ser923Thr) rs1219485932
NM_000057.3(BLM):c.2787A>C (p.Glu929Asp) rs764679551
NM_000057.3(BLM):c.2806A>G (p.Asn936Asp) rs1422513540
NM_000057.3(BLM):c.280C>T (p.Pro94Ser)
NM_000057.3(BLM):c.2822A>G (p.Gln941Arg) rs762267785
NM_000057.3(BLM):c.2840T>C (p.Ile947Thr) rs1024172175
NM_000057.3(BLM):c.2858T>C (p.Ile953Thr) rs587778102
NM_000057.3(BLM):c.2867C>T (p.Pro956Leu)
NM_000057.3(BLM):c.2873T>A (p.Val958Glu) rs1555423088
NM_000057.3(BLM):c.2881G>T (p.Val961Leu) rs1060500639
NM_000057.3(BLM):c.2882T>C (p.Val961Ala)
NM_000057.3(BLM):c.2917T>A (p.Tyr973Asn) rs1555423104
NM_000057.3(BLM):c.2950G>A (p.Gly984Arg) rs755784410
NM_000057.3(BLM):c.2956A>G (p.Ile986Val)
NM_000057.3(BLM):c.2957T>C (p.Ile986Thr) rs1060500631
NM_000057.3(BLM):c.2960C>G (p.Ser987Cys) rs1555423111
NM_000057.3(BLM):c.2960C>T (p.Ser987Phe) rs1555423111
NM_000057.3(BLM):c.2965T>C (p.Cys989Arg) rs1555423112
NM_000057.3(BLM):c.2980A>G (p.Thr994Ala) rs1060500632
NM_000057.3(BLM):c.2983T>C (p.Tyr995His) rs142723411
NM_000057.3(BLM):c.2996C>G (p.Thr999Ser)
NM_000057.3(BLM):c.3000A>T (p.Arg1000Ser)
NM_000057.3(BLM):c.3013A>G (p.Ile1005Val) rs201829983
NM_000057.3(BLM):c.3015A>G (p.Ile1005Met)
NM_000057.3(BLM):c.3021G>A (p.Met1007Ile)
NM_000057.3(BLM):c.3029A>T (p.Asp1010Val)
NM_000057.3(BLM):c.302G>C (p.Arg101Thr)
NM_000057.3(BLM):c.3031G>A (p.Gly1011Arg) rs370073229
NM_000057.3(BLM):c.3041A>G (p.His1014Arg) rs145022945
NM_000057.3(BLM):c.3044C>T (p.Thr1015Ile) rs202196488
NM_000057.3(BLM):c.3062A>G (p.Asn1021Ser) rs369629509
NM_000057.3(BLM):c.3062A>T (p.Asn1021Ile) rs369629509
NM_000057.3(BLM):c.3065A>C (p.Asn1022Thr)
NM_000057.3(BLM):c.3071A>G (p.Tyr1024Cys) rs201676342
NM_000057.3(BLM):c.3079G>A (p.Val1027Ile) rs1300299815
NM_000057.3(BLM):c.3083A>G (p.His1028Arg)
NM_000057.3(BLM):c.3091G>A (p.Glu1031Lys)
NM_000057.3(BLM):c.3098T>C (p.Ile1033Thr) rs1060500647
NM_000057.3(BLM):c.3113G>C (p.Arg1038Thr) rs1555423425
NM_000057.3(BLM):c.311C>T (p.Ser104Leu) rs367543030
NM_000057.3(BLM):c.3131A>G (p.Tyr1044Cys) rs747571272
NM_000057.3(BLM):c.3163T>C (p.Cys1055Arg) rs746218707
NM_000057.3(BLM):c.3167A>G (p.Lys1056Arg)
NM_000057.3(BLM):c.3191A>G (p.Asp1064Gly) rs367543032
NM_000057.3(BLM):c.3210+4A>G rs776621429
NM_000057.3(BLM):c.321_323del (p.Leu108del) rs1555418313
NM_000057.3(BLM):c.3229G>A (p.Val1077Met) rs779096973
NM_000057.3(BLM):c.3236A>G (p.Asp1079Gly) rs776714693
NM_000057.3(BLM):c.3238G>A (p.Asp1080Asn) rs771767745
NM_000057.3(BLM):c.3238G>C (p.Asp1080His) rs771767745
NM_000057.3(BLM):c.3242T>A (p.Val1081Glu) rs762716289
NM_000057.3(BLM):c.326C>G (p.Pro109Arg) rs1555418317
NM_000057.3(BLM):c.3272A>G (p.His1091Arg) rs750954124
NM_000057.3(BLM):c.3286G>A (p.Gly1096Arg) rs1334208387
NM_000057.3(BLM):c.3287G>T (p.Gly1096Val) rs893352310
NM_000057.3(BLM):c.3305A>G (p.His1102Arg)
NM_000057.3(BLM):c.3310G>A (p.Gly1104Ser) rs141269464
NM_000057.3(BLM):c.3311G>A (p.Gly1104Asp) rs150784889
NM_000057.3(BLM):c.3340C>T (p.Leu1114=)
NM_000057.3(BLM):c.3341T>C (p.Leu1114Pro) rs1444338168
NM_000057.3(BLM):c.3346G>C (p.Asp1116His) rs936749145
NM_000057.3(BLM):c.3354C>A (p.Phe1118Leu) rs1351493073
NM_000057.3(BLM):c.3358G>A (p.Gly1120Arg) rs139773499
NM_000057.3(BLM):c.3359-13A>G rs200250931
NM_000057.3(BLM):c.3360G>T (p.Gly1120=)
NM_000057.3(BLM):c.3362G>T (p.Ser1121Ile)
NM_000057.3(BLM):c.3386G>A (p.Gly1129Asp) rs375841213
NM_000057.3(BLM):c.3397A>G (p.Lys1133Glu) rs145027663
NM_000057.3(BLM):c.3400G>A (p.Gly1134Arg)
NM_000057.3(BLM):c.3401G>A (p.Gly1134Glu) rs1555424286
NM_000057.3(BLM):c.3416G>A (p.Arg1139Gln) rs771776126
NM_000057.3(BLM):c.3416G>C (p.Arg1139Pro) rs771776126
NM_000057.3(BLM):c.3418C>T (p.His1140Tyr) rs746602812
NM_000057.3(BLM):c.3427G>A (p.Glu1143Lys) rs140387675
NM_000057.3(BLM):c.343C>T (p.Pro115Ser)
NM_000057.3(BLM):c.3449T>C (p.Ile1150Thr) rs1378138456
NM_000057.3(BLM):c.344C>T (p.Pro115Leu)
NM_000057.3(BLM):c.3472G>A (p.Asp1158Asn)
NM_000057.3(BLM):c.3485A>G (p.Asn1162Ser) rs1237460907
NM_000057.3(BLM):c.3500C>G (p.Ala1167Gly) rs987150263
NM_000057.3(BLM):c.3505G>A (p.Ala1169Thr) rs777492549
NM_000057.3(BLM):c.3511G>A (p.Val1171Met) rs770585247
NM_000057.3(BLM):c.3520G>A (p.Gly1174Arg)
NM_000057.3(BLM):c.3556A>G (p.Lys1186Glu)
NM_000057.3(BLM):c.3558+1G>T rs148969222
NM_000057.3(BLM):c.3558+3A>G rs766386042
NM_000057.3(BLM):c.3569T>C (p.Met1190Thr) rs1555424373
NM_000057.3(BLM):c.3608C>T (p.Ala1203Val) rs757088548
NM_000057.3(BLM):c.3625T>A (p.Ser1209Thr) rs1801256
NM_000057.3(BLM):c.362C>G (p.Thr121Ser)
NM_000057.3(BLM):c.3642G>A (p.Met1214Ile) rs377253486
NM_000057.3(BLM):c.3651A>T (p.Lys1217Asn) rs587779887
NM_000057.3(BLM):c.3658G>A (p.Gly1220Arg)
NM_000057.3(BLM):c.3668C>G (p.Thr1223Arg)
NM_000057.3(BLM):c.3685C>G (p.Leu1229Val) rs1555424395
NM_000057.3(BLM):c.368A>G (p.Gln123Arg) rs371223446
NM_000057.3(BLM):c.371A>G (p.Asn124Ser) rs770825975
NM_000057.3(BLM):c.3733A>T (p.Thr1245Ser) rs1555424403
NM_000057.3(BLM):c.3743A>T (p.Lys1248Met) rs1555424404
NM_000057.3(BLM):c.3751+10C>T rs199685140
NM_000057.3(BLM):c.3751G>C (p.Glu1251Gln) rs587779888
NM_000057.3(BLM):c.376C>T (p.Pro126Ser)
NM_000057.3(BLM):c.377C>T (p.Pro126Leu) rs1060500650
NM_000057.3(BLM):c.3781C>T (p.Leu1261Phe)
NM_000057.3(BLM):c.379A>G (p.Thr127Ala)
NM_000057.3(BLM):c.3826G>A (p.Ala1276Thr)
NM_000057.3(BLM):c.3827C>A (p.Ala1276Glu) rs760554566
NM_000057.3(BLM):c.3865A>T (p.Thr1289Ser) rs1060500645
NM_000057.3(BLM):c.3869C>T (p.Ser1290Leu) rs1031421025
NM_000057.3(BLM):c.3872C>T (p.Pro1291Leu) rs373003917
NM_000057.3(BLM):c.3875C>A (p.Ala1292Asp)
NM_000057.3(BLM):c.3879A>G (p.Glu1293=) rs28377085
NM_000057.3(BLM):c.3892G>A (p.Gly1298Arg) rs587779889
NM_000057.3(BLM):c.3922G>A (p.Gly1308Arg) rs768010078
NM_000057.3(BLM):c.3923G>A (p.Gly1308Glu) rs750865930
NM_000057.3(BLM):c.3924A>T (p.Gly1308=) rs1019687102
NM_000057.3(BLM):c.3926G>C (p.Arg1309Thr)
NM_000057.3(BLM):c.3930T>G (p.Ser1310Arg) rs886051552
NM_000057.3(BLM):c.3934G>A (p.Ala1312Thr) rs527291754
NM_000057.3(BLM):c.3944_3945delTCinsCT (p.Leu1315Pro)
NM_000057.3(BLM):c.3949G>A (p.Glu1317Lys) rs730880251
NM_000057.3(BLM):c.395G>A (p.Arg132Gln)
NM_000057.3(BLM):c.3960C>T (p.Pro1320=) rs56009845
NM_000057.3(BLM):c.3970C>T (p.His1324Tyr) rs748943489
NM_000057.3(BLM):c.3976T>A (p.Phe1326Ile) rs1222912167
NM_000057.3(BLM):c.3991A>G (p.Arg1331Gly) rs150631940
NM_000057.3(BLM):c.3992G>A (p.Arg1331Lys) rs1060500648
NM_000057.3(BLM):c.4016T>C (p.Met1339Thr)
NM_000057.3(BLM):c.4019C>T (p.Pro1340Leu) rs766959130
NM_000057.3(BLM):c.4022C>T (p.Ala1341Val) rs201149857
NM_000057.3(BLM):c.4039_4048del10 (p.Arg1347Leufs) rs1555425105
NM_000057.3(BLM):c.403G>T (p.Ala135Ser) rs373832397
NM_000057.3(BLM):c.4059T>A (p.Ser1353Arg) rs1060500646
NM_000057.3(BLM):c.4061G>C (p.Gly1354Ala) rs891751726
NM_000057.3(BLM):c.4076+1G>T rs752899566
NM_000057.3(BLM):c.4076+3A>G rs758564326
NM_000057.3(BLM):c.4077-10C>T rs145310008
NM_000057.3(BLM):c.4088C>T (p.Thr1363Ile) rs1060500649
NM_000057.3(BLM):c.4093A>G (p.Arg1365Gly) rs759982203
NM_000057.3(BLM):c.4112C>T (p.Thr1371Met) rs587779891
NM_000057.3(BLM):c.4123del (p.Ser1375Alafs) rs1555425410
NM_000057.3(BLM):c.4126A>G (p.Ile1376Val) rs587779892
NM_000057.3(BLM):c.4130T>C (p.Ile1377Thr) rs1555425416
NM_000057.3(BLM):c.4132G>T (p.Gly1378Ter) rs1555425417
NM_000057.3(BLM):c.4140T>G (p.Ser1380Arg) rs747834576
NM_000057.3(BLM):c.4148C>G (p.Ser1383Ter)
NM_000057.3(BLM):c.4196T>C (p.Met1399Thr)
NM_000057.3(BLM):c.4205C>T (p.Pro1402Leu)
NM_000057.3(BLM):c.4210C>T (p.Pro1404Ser)
NM_000057.3(BLM):c.4214T>C (p.Ile1405Thr) rs763323767
NM_000057.3(BLM):c.4216_4217delAA (p.Asn1406Terfs)
NM_000057.3(BLM):c.4220G>A (p.Arg1407Lys) rs557057587
NM_000057.3(BLM):c.4221A>C (p.Arg1407Ser)
NM_000057.3(BLM):c.4223C>G (p.Pro1408Arg) rs1022266595
NM_000057.3(BLM):c.4240T>C (p.Tyr1414His) rs753800694
NM_000057.3(BLM):c.4248C>G (p.Phe1416Leu)
NM_000057.3(BLM):c.4251A>C (p.Ser1417=) rs886051553
NM_000057.3(BLM):c.4252T>A (p.Ter1418Lys) rs1555425441
NM_000057.3(BLM):c.433C>G (p.Pro145Ala) rs1555418335
NM_000057.3(BLM):c.43C>T (p.Arg15Cys) rs148545569
NM_000057.3(BLM):c.448A>G (p.Thr150Ala)
NM_000057.3(BLM):c.451A>G (p.Ile151Val) rs780472557
NM_000057.3(BLM):c.457G>C (p.Asp153His) rs368158276
NM_000057.3(BLM):c.483_491del9 (p.Asp161_Ser163del) rs773427744
NM_000057.3(BLM):c.488C>T (p.Ser163Phe) rs745819553
NM_000057.3(BLM):c.489_497dup (p.Ser166_Lys167insGluThrSer) rs1555418362
NM_000057.3(BLM):c.491A>C (p.Glu164Ala) rs1555418365
NM_000057.3(BLM):c.499A>G (p.Lys167Glu) rs775285496
NM_000057.3(BLM):c.4G>T (p.Ala2Ser)
NM_000057.3(BLM):c.506T>G (p.Phe169Cys) rs1013299710
NM_000057.3(BLM):c.532G>A (p.Val178Ile)
NM_000057.3(BLM):c.542G>T (p.Ser181Ile) rs587779893
NM_000057.3(BLM):c.543C>A (p.Ser181Arg) rs761288442
NM_000057.3(BLM):c.544A>G (p.Thr182Ala) rs1060500643
NM_000057.3(BLM):c.566G>A (p.Gly189Asp)
NM_000057.3(BLM):c.572G>T (p.Arg191Ile) rs569086568
NM_000057.3(BLM):c.577T>C (p.Phe193Leu)
NM_000057.3(BLM):c.57A>T (p.Arg19Ser) rs1555418008
NM_000057.3(BLM):c.586G>A (p.Ala196Thr)
NM_000057.3(BLM):c.607A>G (p.Thr203Ala) rs1060500633
NM_000057.3(BLM):c.615G>C (p.Lys205Asn)
NM_000057.3(BLM):c.623T>G (p.Leu208Trp) rs1555418411
NM_000057.3(BLM):c.635C>T (p.Ser212Phe) rs777938065
NM_000057.3(BLM):c.645C>G (p.Ser215Arg)
NM_000057.3(BLM):c.646G>A (p.Glu216Lys) rs779934502
NM_000057.3(BLM):c.651A>C (p.Gln217His)
NM_000057.3(BLM):c.656A>C (p.Asp219Ala) rs1246909789
NM_000057.3(BLM):c.657T>G (p.Asp219Glu)
NM_000057.3(BLM):c.671A>C (p.Gln224Pro) rs770111029
NM_000057.3(BLM):c.671A>G (p.Gln224Arg) rs770111029
NM_000057.3(BLM):c.678_680dup (p.Asp227_Ser228insAsp) rs1555418424
NM_000057.3(BLM):c.679G>A (p.Asp227Asn) rs1555418427
NM_000057.3(BLM):c.685G>C (p.Glu229Gln) rs1555418428
NM_000057.3(BLM):c.696C>A (p.Ser232Arg) rs201845548
NM_000057.3(BLM):c.700G>A (p.Asp234Asn) rs878853555
NM_000057.3(BLM):c.715G>A (p.Asp239Asn) rs200756519
NM_000057.3(BLM):c.715G>C (p.Asp239His) rs200756519
NM_000057.3(BLM):c.716A>G (p.Asp239Gly) rs751699247
NM_000057.3(BLM):c.722G>A (p.Gly241Asp) rs200897029
NM_000057.3(BLM):c.724C>T (p.Pro242Ser)
NM_000057.3(BLM):c.725C>G (p.Pro242Arg) rs1060500642
NM_000057.3(BLM):c.727A>G (p.Ile243Val) rs201722470
NM_000057.3(BLM):c.752A>T (p.Asp251Val) rs1555418456
NM_000057.3(BLM):c.763A>G (p.Ser255Gly)
NM_000057.3(BLM):c.782A>G (p.His261Arg) rs763166861
NM_000057.3(BLM):c.794A>G (p.Glu265Gly)
NM_000057.3(BLM):c.800-3T>G rs377266736
NM_000057.3(BLM):c.803A>G (p.Asn268Ser)
NM_000057.3(BLM):c.805A>G (p.Ser269Gly) rs141411463
NM_000057.3(BLM):c.807C>T (p.Ser269=) rs147850738
NM_000057.3(BLM):c.808G>A (p.Glu270Lys) rs762053925
NM_000057.3(BLM):c.819_821delGAA (p.Lys273del) rs587779895
NM_000057.3(BLM):c.842A>C (p.His281Pro) rs202042636
NM_000057.3(BLM):c.842A>G (p.His281Arg) rs202042636
NM_000057.3(BLM):c.843T>G (p.His281Gln)
NM_000057.3(BLM):c.847A>G (p.Thr283Ala) rs149598003
NM_000057.3(BLM):c.848C>G (p.Thr283Ser)
NM_000057.3(BLM):c.856G>T (p.Val286Phe)
NM_000057.3(BLM):c.883G>T (p.Asp295Tyr)
NM_000057.3(BLM):c.883_885dup (p.Asp295_Tyr296insAsp) rs1208432656
NM_000057.3(BLM):c.887A>G (p.Tyr296Cys) rs775005766
NM_000057.3(BLM):c.887A>T (p.Tyr296Phe)
NM_000057.3(BLM):c.894G>A (p.Thr298=) rs762144355
NM_000057.3(BLM):c.931G>T (p.Ala311Ser) rs753911420
NM_000057.3(BLM):c.934T>G (p.Ser312Ala) rs372454889
NM_000057.3(BLM):c.939_941delTTC (p.Ser316del)
NM_000057.3(BLM):c.959G>C (p.Ser320Thr)
NM_000057.3(BLM):c.968A>G (p.Lys323Arg) rs146504061
NM_000057.3(BLM):c.98+3_98+6delAAGT rs1555418015
NM_000057.3(BLM):c.98+6T>G rs886051550
NM_000057.3(BLM):c.98C>T (p.Ser33Leu) rs139282091
NM_000057.3(BLM):c.99-9_99-7delATT
NM_000057.3(BLM):c.992A>C (p.Lys331Thr)
NM_000057.4(BLM):c.3267A>G (p.Gln1089=)
NM_000057.4(BLM):c.44G>A (p.Arg15His) rs752755503

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.