ClinVar Miner

List of variants in gene BLM reported as likely pathogenic by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 66
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HGVS dbSNP gnomAD frequency
NM_000057.4(BLM):c.3210+2del rs587779886 0.00003
NM_000057.4(BLM):c.2015A>G (p.Gln672Arg) rs747281324 0.00001
NM_000057.4(BLM):c.2075-1G>A rs1231598990 0.00001
NM_000057.4(BLM):c.2663-1G>C rs1444037196 0.00001
NM_000057.4(BLM):c.2823+2T>A rs1896712920 0.00001
NM_000057.4(BLM):c.2824-2A>T rs745538883 0.00001
NM_000057.4(BLM):c.3013_3019+4del rs765392662 0.00001
NM_000057.4(BLM):c.3020-258A>G rs1301751251 0.00001
NC_000015.10:g.(?_90794157)_(90798347_?)del
NC_000015.10:g.(?_90803511)_(90804369_?)del
NC_000015.10:g.(?_90809127)_(90815289_?)del
NC_000015.9:g.(?_91326042)_(91328321_?)dup
NC_000015.9:g.(?_91326042)_(91334084_?)dup
NC_000015.9:g.(?_91326042)_(91358509_?)del
NC_000015.9:g.(?_91341410)_(91341577_?)dup
NC_000015.9:g.(?_91341448)_(91344889_?)del
NC_000015.9:g.(?_91346741)_(91358509_?)del
NC_000015.9:g.(?_91346741)_(91358519_?)del
NC_000015.9:g.(?_91352357)_(91358509_?)del
NM_000057.4(BLM):c.1087+1G>A rs1179486581
NM_000057.4(BLM):c.1087+2T>C
NM_000057.4(BLM):c.1088-1G>A rs1555419696
NM_000057.4(BLM):c.1220+2T>C
NM_000057.4(BLM):c.1220+2T>G
NM_000057.4(BLM):c.1882+1G>C rs757841012
NM_000057.4(BLM):c.1882+2T>C
NM_000057.4(BLM):c.1883-1G>A rs772230310
NM_000057.4(BLM):c.2074+1G>T rs367543036
NM_000057.4(BLM):c.2193+1G>A rs865866188
NM_000057.4(BLM):c.2307+1G>A
NM_000057.4(BLM):c.2307+2T>G rs2151164052
NM_000057.4(BLM):c.2308-2A>G rs1248548542
NM_000057.4(BLM):c.2548_2555+12del
NM_000057.4(BLM):c.2555+1G>A
NM_000057.4(BLM):c.2556-1G>T rs1896650174
NM_000057.4(BLM):c.2556-2A>G rs1596250255
NM_000057.4(BLM):c.2662+2T>C rs1567052324
NM_000057.4(BLM):c.2662+2T>G rs1567052324
NM_000057.4(BLM):c.2823_2823+3del
NM_000057.4(BLM):c.2824-1G>C rs1555423062
NM_000057.4(BLM):c.2824-2A>C rs745538883
NM_000057.4(BLM):c.3211-2A>G
NM_000057.4(BLM):c.3358+1G>A
NM_000057.4(BLM):c.3359-2A>G
NM_000057.4(BLM):c.3554_3559-116del
NM_000057.4(BLM):c.3559-1G>A rs1555424368
NM_000057.4(BLM):c.3751+1G>A rs1897239335
NM_000057.4(BLM):c.3751+2T>C rs1897239414
NM_000057.4(BLM):c.3874+1G>A
NM_000057.4(BLM):c.3874+2T>C rs1555424890
NM_000057.4(BLM):c.3875-1G>A rs2151199690
NM_000057.4(BLM):c.3875-2A>T rs150421256
NM_000057.4(BLM):c.3956del (p.Ile1319fs) rs1555425080
NM_000057.4(BLM):c.4000_4004del (p.Arg1334fs) rs1057516261
NM_000057.4(BLM):c.4013dup (p.Met1339fs)
NM_000057.4(BLM):c.799+1G>A
NM_000057.4(BLM):c.799+1G>T rs1895641581
NM_000057.4(BLM):c.800-2A>G rs1895690125
NM_000057.4(BLM):c.959+1_959+9del rs765061205
NM_000057.4(BLM):c.959_959+16del
NM_000057.4(BLM):c.960-1G>A rs1596223715
NM_000057.4(BLM):c.960-1G>T rs1596223715
NM_000057.4(BLM):c.960-2A>C rs1286600850
NM_000057.4(BLM):c.98_98+1del
NM_000057.4(BLM):c.99-1G>T
NM_000057.4(BLM):c.99-8_112del rs2151146678

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