ClinVar Miner

List of variants in gene BLM reported as uncertain significance by Mendelics

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 44
Download table as spreadsheet
HGVS dbSNP
NM_000057.4(BLM):c.114A>G (p.Lys38=) rs770017301
NM_000057.4(BLM):c.11T>C (p.Val4Ala) rs144706057
NM_000057.4(BLM):c.1216A>G (p.Ile406Val)
NM_000057.4(BLM):c.1228C>T (p.Leu410Phe)
NM_000057.4(BLM):c.1315A>G (p.Met439Val) rs201231857
NM_000057.4(BLM):c.1481C>T (p.Thr494Ile) rs751600686
NM_000057.4(BLM):c.14C>T (p.Pro5Leu) rs1567034056
NM_000057.4(BLM):c.1601A>G (p.Asn534Ser) rs35224686
NM_000057.4(BLM):c.1888T>C (p.Ser630Pro) rs1567042153
NM_000057.4(BLM):c.1972A>G (p.Ile658Val) rs1567042248
NM_000057.4(BLM):c.199G>A (p.Val67Ile)
NM_000057.4(BLM):c.2237C>T (p.Ala746Val) rs769498533
NM_000057.4(BLM):c.2263A>G (p.Lys755Glu) rs142551229
NM_000057.4(BLM):c.2362C>G (p.Leu788Val)
NM_000057.4(BLM):c.241A>G (p.Thr81Ala) rs1060500637
NM_000057.4(BLM):c.2474C>T (p.Pro825Leu) rs749632465
NM_000057.4(BLM):c.2475G>A (p.Pro825=) rs147587050
NM_000057.4(BLM):c.2497G>A (p.Ala833Thr)
NM_000057.4(BLM):c.2556-8T>C rs1567052156
NM_000057.4(BLM):c.2561G>A (p.Ser854Asn) rs758692622
NM_000057.4(BLM):c.2570T>C (p.Phe857Ser) rs1567052169
NM_000057.4(BLM):c.2594A>G (p.Tyr865Cys) rs777842626
NM_000057.4(BLM):c.2720C>T (p.Thr907Met) rs367953471
NM_000057.4(BLM):c.274A>G (p.Asn92Asp) rs200690226
NM_000057.4(BLM):c.3041A>G (p.His1014Arg) rs145022945
NM_000057.4(BLM):c.3065A>C (p.Asn1022Thr) rs1567058281
NM_000057.4(BLM):c.3098T>C (p.Ile1033Thr) rs1060500647
NM_000057.4(BLM):c.3340C>T (p.Leu1114=) rs1567060305
NM_000057.4(BLM):c.3427G>A (p.Glu1143Lys) rs140387675
NM_000057.4(BLM):c.3556A>G (p.Lys1186Glu)
NM_000057.4(BLM):c.3625T>A (p.Ser1209Thr) rs1801256
NM_000057.4(BLM):c.3991A>G (p.Arg1331Gly) rs150631940
NM_000057.4(BLM):c.4016T>C (p.Met1339Thr)
NM_000057.4(BLM):c.4148C>G (p.Ser1383Ter) rs1567068960
NM_000057.4(BLM):c.4196T>C (p.Met1399Thr) rs1567069030
NM_000057.4(BLM):c.43C>T (p.Arg15Cys) rs148545569
NM_000057.4(BLM):c.532G>A (p.Val178Ile) rs1191794374
NM_000057.4(BLM):c.543C>A (p.Ser181Arg) rs761288442
NM_000057.4(BLM):c.572G>T (p.Arg191Ile) rs569086568
NM_000057.4(BLM):c.615G>C (p.Lys205Asn)
NM_000057.4(BLM):c.645C>G (p.Ser215Arg)
NM_000057.4(BLM):c.813_815GAA[2] (p.Lys273del) rs587779895
NM_000057.4(BLM):c.934T>G (p.Ser312Ala) rs372454889
NM_000057.4(BLM):c.968A>G (p.Lys323Arg) rs146504061

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.