ClinVar Miner

List of variants reported as likely benign for Bloom syndrome by Invitae

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 100
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HGVS dbSNP
NM_000057.3(BLM):c.3358+7_3358+13delCATCTGT rs1555423799
NM_000057.4(BLM):c.1086C>T (p.Asp362=) rs375632163
NM_000057.4(BLM):c.114A>G (p.Lys38=) rs770017301
NM_000057.4(BLM):c.1191G>C (p.Gly397=) rs780393464
NM_000057.4(BLM):c.1194C>T (p.Asn398=) rs202103556
NM_000057.4(BLM):c.1236G>A (p.Thr412=) rs762617509
NM_000057.4(BLM):c.1245T>C (p.Asp415=) rs768154708
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.1308T>C (p.Asp436=) rs140178590
NM_000057.4(BLM):c.1467G>A (p.Arg489=) rs56257041
NM_000057.4(BLM):c.1601A>G (p.Asn534Ser) rs35224686
NM_000057.4(BLM):c.174T>C (p.Pro58=) rs576862402
NM_000057.4(BLM):c.1785A>T (p.Ser595=) rs79871543
NM_000057.4(BLM):c.1788A>G (p.Val596=) rs1555419972
NM_000057.4(BLM):c.1818C>T (p.Asp606=) rs1343649830
NM_000057.4(BLM):c.201T>C (p.Val67=) rs563887813
NM_000057.4(BLM):c.2025G>A (p.Ala675=) rs781424357
NM_000057.4(BLM):c.2049A>G (p.Glu683=) rs201440695
NM_000057.4(BLM):c.204C>T (p.Thr68=) rs199927688
NM_000057.4(BLM):c.2070G>T (p.Pro690=) rs148078150
NM_000057.4(BLM):c.2106T>A (p.Pro702=) rs529421306
NM_000057.4(BLM):c.2115T>C (p.Val705=) rs142787700
NM_000057.4(BLM):c.2229C>T (p.Asp743=) rs889046632
NM_000057.4(BLM):c.2241A>G (p.Thr747=) rs1060503987
NM_000057.4(BLM):c.2263A>G (p.Lys755Glu) rs142551229
NM_000057.4(BLM):c.2293G>A (p.Val765Ile) rs191789336
NM_000057.4(BLM):c.2310C>T (p.Ile770=) rs759705000
NM_000057.4(BLM):c.231A>G (p.Leu77=) rs760696149
NM_000057.4(BLM):c.2362C>A (p.Leu788Ile) rs149754073
NM_000057.4(BLM):c.2397T>C (p.Cys799=) rs771209978
NM_000057.4(BLM):c.2454C>G (p.Arg818=) rs746409922
NM_000057.4(BLM):c.2475G>C (p.Pro825=) rs147587050
NM_000057.4(BLM):c.2595T>C (p.Tyr865=) rs1060503989
NM_000057.4(BLM):c.2598A>T (p.Val866=) rs574053990
NM_000057.4(BLM):c.2604G>A (p.Pro868=) rs768447097
NM_000057.4(BLM):c.261G>A (p.Lys87=) rs372668612
NM_000057.4(BLM):c.2679T>C (p.Ile893=) rs751945434
NM_000057.4(BLM):c.2688C>T (p.Leu896=) rs1488182321
NM_000057.4(BLM):c.2691C>T (p.Ser897=) rs756155242
NM_000057.4(BLM):c.2709C>T (p.Thr903=) rs1555422522
NM_000057.4(BLM):c.2721G>A (p.Thr907=) rs1009065257
NM_000057.4(BLM):c.2739C>T (p.Leu913=) rs759223856
NM_000057.4(BLM):c.2784T>C (p.Asp928=) rs1032746564
NM_000057.4(BLM):c.2824-7A>G rs374616797
NM_000057.4(BLM):c.2838A>T (p.Thr946=) rs200850440
NM_000057.4(BLM):c.2839A>G (p.Ile947Val) rs189925962
NM_000057.4(BLM):c.2868G>A (p.Pro956=) rs199861261
NM_000057.4(BLM):c.2871C>T (p.Asp957=) rs878853554
NM_000057.4(BLM):c.2877A>C (p.Arg959=) rs773582992
NM_000057.4(BLM):c.2919C>T (p.Tyr973=) rs181161119
NM_000057.4(BLM):c.3019+7T>C rs761087545
NM_000057.4(BLM):c.3042T>C (p.His1014=) rs1060503986
NM_000057.4(BLM):c.3117A>G (p.Ile1039Met) rs576199850
NM_000057.4(BLM):c.3195T>C (p.Asn1065=) rs1297274221
NM_000057.4(BLM):c.3210+10G>T rs765057634
NM_000057.4(BLM):c.3225A>G (p.Arg1075=) rs7171673
NM_000057.4(BLM):c.3348C>T (p.Asp1116=) rs372697241
NM_000057.4(BLM):c.3358+9T>C rs1555423800
NM_000057.4(BLM):c.3359-9T>C rs1060503988
NM_000057.4(BLM):c.3426C>T (p.Ala1142=) rs147148171
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.3513G>A (p.Val1171=) rs780615126
NM_000057.4(BLM):c.3592G>A (p.Val1198Met) rs142928725
NM_000057.4(BLM):c.3609G>A (p.Ala1203=) rs151114049
NM_000057.4(BLM):c.3729C>T (p.Thr1243=) rs747293738
NM_000057.4(BLM):c.372C>T (p.Asn124=) rs776602757
NM_000057.4(BLM):c.3747T>A (p.Leu1249=) rs776748831
NM_000057.4(BLM):c.3751+10C>G rs199685140
NM_000057.4(BLM):c.3751+10C>T rs199685140
NM_000057.4(BLM):c.3751+9A>C rs774368488
NM_000057.4(BLM):c.3813G>A (p.Leu1271=) rs376082823
NM_000057.4(BLM):c.3828G>A (p.Ala1276=) rs369383272
NM_000057.4(BLM):c.3861A>G (p.Glu1287=) rs977539638
NM_000057.4(BLM):c.3867A>G (p.Thr1289=) rs759000443
NM_000057.4(BLM):c.3921C>T (p.Pro1307=) rs149286215
NM_000057.4(BLM):c.3936T>C (p.Ala1312=) rs1034211979
NM_000057.4(BLM):c.3948C>T (p.Asp1316=) rs375896520
NM_000057.4(BLM):c.3957A>T (p.Ile1319=) rs1555425082
NM_000057.4(BLM):c.4077-5T>C rs200653178
NM_000057.4(BLM):c.4110A>G (p.Lys1370=) rs1555425406
NM_000057.4(BLM):c.4113G>A (p.Thr1371=) rs61754135
NM_000057.4(BLM):c.4122C>T (p.Ser1374=) rs145277875
NM_000057.4(BLM):c.4186T>C (p.Leu1396=) rs376734461
NM_000057.4(BLM):c.4224G>A (p.Pro1408=) rs774367622
NM_000057.4(BLM):c.43C>T (p.Arg15Cys) rs148545569
NM_000057.4(BLM):c.489T>C (p.Ser163=) rs781044650
NM_000057.4(BLM):c.543C>T (p.Ser181=) rs761288442
NM_000057.4(BLM):c.645C>T (p.Ser215=) rs56218710
NM_000057.4(BLM):c.702T>C (p.Asp234=) rs1271054585
NM_000057.4(BLM):c.759G>A (p.Gln253=) rs34580216
NM_000057.4(BLM):c.780T>C (p.Thr260=) rs55763079
NM_000057.4(BLM):c.807C>T (p.Ser269=) rs147850738
NM_000057.4(BLM):c.816G>A (p.Lys272=) rs139295905
NM_000057.4(BLM):c.861A>G (p.Pro287=) rs1555418666
NM_000057.4(BLM):c.918A>G (p.Glu306=) rs760806762
NM_000057.4(BLM):c.933T>C (p.Ala311=) rs1413246062
NM_000057.4(BLM):c.960-4G>A rs1555418976
NM_000057.4(BLM):c.99-9A>T rs1419730289

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