ClinVar Miner

List of variants in gene BLM reported as likely benign by Ambry Genetics

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 57
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HGVS dbSNP
NM_000057.3(BLM):c.1086C>T (p.Asp362=) rs375632163
NM_000057.3(BLM):c.1100G>A (p.Ser367Asn) rs772176483
NM_000057.3(BLM):c.1194C>T (p.Asn398=) rs202103556
NM_000057.3(BLM):c.1251T>C (p.Asn417=) rs1555419791
NM_000057.3(BLM):c.1315A>G (p.Met439Val) rs201231857
NM_000057.3(BLM):c.1404T>C (p.Cys468=) rs1236929438
NM_000057.3(BLM):c.1467G>A (p.Arg489=) rs56257041
NM_000057.3(BLM):c.1519G>A (p.Glu507Lys) rs192491153
NM_000057.3(BLM):c.1722A>G (p.Leu574=) rs28385011
NM_000057.3(BLM):c.174T>C (p.Pro58=) rs576862402
NM_000057.3(BLM):c.1881T>C (p.Thr627=) rs148678729
NM_000057.3(BLM):c.191A>T (p.Asp64Val) rs140382474
NM_000057.3(BLM):c.1928G>A (p.Arg643His) rs12720097
NM_000057.3(BLM):c.2037A>G (p.Ala679=) rs1555420173
NM_000057.3(BLM):c.2115T>C (p.Val705=) rs142787700
NM_000057.3(BLM):c.2119C>T (p.Pro707Ser) rs146077918
NM_000057.3(BLM):c.2268A>G (p.Lys756=) rs146013879
NM_000057.3(BLM):c.2475G>A (p.Pro825=) rs147587050
NM_000057.3(BLM):c.2505C>G (p.Pro835=) rs1023396216
NM_000057.3(BLM):c.2598A>T (p.Val866=) rs574053990
NM_000057.3(BLM):c.261G>A (p.Lys87=) rs372668612
NM_000057.3(BLM):c.2721G>A (p.Thr907=) rs1009065257
NM_000057.3(BLM):c.2739C>T (p.Leu913=) rs759223856
NM_000057.3(BLM):c.2838A>G (p.Thr946=) rs200850440
NM_000057.3(BLM):c.2868G>A (p.Pro956=) rs199861261
NM_000057.3(BLM):c.2898C>G (p.Leu966=) rs201220226
NM_000057.3(BLM):c.2919C>T (p.Tyr973=) rs181161119
NM_000057.3(BLM):c.3041A>G (p.His1014Arg) rs145022945
NM_000057.3(BLM):c.3128C>A (p.Ala1043Asp) rs2229035
NM_000057.3(BLM):c.3225A>G (p.Arg1075=) rs7171673
NM_000057.3(BLM):c.3348C>T (p.Asp1116=) rs372697241
NM_000057.3(BLM):c.3397A>G (p.Lys1133Glu) rs145027663
NM_000057.3(BLM):c.3501G>A (p.Ala1167=) rs752559933
NM_000057.3(BLM):c.3592G>A (p.Val1198Met) rs142928725
NM_000057.3(BLM):c.3609G>A (p.Ala1203=) rs151114049
NM_000057.3(BLM):c.3613G>A (p.Val1205Ile) rs28385141
NM_000057.3(BLM):c.3625T>A (p.Ser1209Thr) rs1801256
NM_000057.3(BLM):c.3672A>G (p.Glu1224=) rs1555424393
NM_000057.3(BLM):c.3798T>G (p.Val1266=) rs138831180
NM_000057.3(BLM):c.3813G>A (p.Leu1271=) rs376082823
NM_000057.3(BLM):c.3828G>A (p.Ala1276=) rs369383272
NM_000057.3(BLM):c.3849G>A (p.Gln1283=) rs140524886
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.3960C>T (p.Pro1320=) rs56009845
NM_000057.3(BLM):c.4076+4T>G rs183176301
NM_000057.3(BLM):c.4113G>A (p.Thr1371=) rs61754135
NM_000057.3(BLM):c.4186T>C (p.Leu1396=) rs376734461
NM_000057.3(BLM):c.465T>C (p.Asp155=) rs185349681
NM_000057.3(BLM):c.543C>T (p.Ser181=) rs761288442
NM_000057.3(BLM):c.615G>A (p.Lys205=) rs28903082
NM_000057.3(BLM):c.645C>T (p.Ser215=) rs56218710
NM_000057.3(BLM):c.699C>T (p.Ser233=) rs200125311
NM_000057.3(BLM):c.759G>A (p.Gln253=) rs34580216
NM_000057.3(BLM):c.780T>C (p.Thr260=) rs55763079
NM_000057.3(BLM):c.807C>T (p.Ser269=) rs147850738
NM_000057.3(BLM):c.816G>A (p.Lys272=) rs139295905

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