ClinVar Miner

List of variants in gene BLM reported as uncertain significance for not specified

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Total variants: 16
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HGVS dbSNP
NM_000057.4(BLM):c.11T>C (p.Val4Ala) rs144706057
NM_000057.4(BLM):c.191A>G (p.Asp64Gly) rs140382474
NM_000057.4(BLM):c.2333C>G (p.Ser778Cys) rs139610577
NM_000057.4(BLM):c.2371C>T (p.Arg791Cys) rs55880859
NM_000057.4(BLM):c.2490G>A (p.Thr830=) rs765233032
NM_000057.4(BLM):c.274A>G (p.Asn92Asp) rs200690226
NM_000057.4(BLM):c.2824-1066del rs1567055836
NM_000057.4(BLM):c.3272A>G (p.His1091Arg) rs750954124
NM_000057.4(BLM):c.3585C>T (p.Ser1195=) rs1023322113
NM_000057.4(BLM):c.3625T>A (p.Ser1209Thr) rs1801256
NM_000057.4(BLM):c.3751+10C>T rs199685140
NM_000057.4(BLM):c.4076+4T>C rs183176301
NM_000057.4(BLM):c.4076+4T>G rs183176301
NM_000057.4(BLM):c.4077-10C>T rs145310008
NM_000057.4(BLM):c.44G>A (p.Arg15His) rs752755503
NM_000057.4(BLM):c.780T>C (p.Thr260=) rs55763079

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