ClinVar Miner

List of variants in gene BLM reported by Genetic Services Laboratory, University of Chicago

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Gene type:
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Total variants: 22
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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.1928G>A (p.Arg643His) rs12720097
NM_000057.4(BLM):c.2075-12G>T rs28385027
NM_000057.4(BLM):c.2263A>G (p.Lys755Glu) rs142551229
NM_000057.4(BLM):c.2333C>G (p.Ser778Cys) rs139610577
NM_000057.4(BLM):c.2490G>A (p.Thr830=) rs765233032
NM_000057.4(BLM):c.2555+7T>C rs3815003
NM_000057.4(BLM):c.2603C>T (p.Pro868Leu) rs2227935
NM_000057.4(BLM):c.3102G>A (p.Thr1034=) rs2227933
NM_000057.4(BLM):c.3128C>A (p.Ala1043Asp) rs2229035
NM_000057.4(BLM):c.3272A>G (p.His1091Arg) rs750954124
NM_000057.4(BLM):c.3359-121_3359-120insA rs11377009
NM_000057.4(BLM):c.3531C>A (p.Ala1177=) rs2227934
NM_000057.4(BLM):c.3625T>A (p.Ser1209Thr) rs1801256
NM_000057.4(BLM):c.3798T>G (p.Val1266=) rs138831180
NM_000057.4(BLM):c.3945C>T (p.Leu1315=) rs1063147
NM_000057.4(BLM):c.3961G>A (p.Val1321Ile) rs7167216
NM_000057.4(BLM):c.4076+4T>C rs183176301
NM_000057.4(BLM):c.4076+4T>G rs183176301
NM_000057.4(BLM):c.4077-59_4077-57dup rs10685387
NM_000057.4(BLM):c.615G>A (p.Lys205=) rs28903082

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