ClinVar Miner

List of variants in gene BLM reported as benign for Hereditary cancer-predisposing syndrome

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Total variants: 15
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HGVS dbSNP gnomAD frequency
NM_000057.4(BLM):c.3102G>A (p.Thr1034=) rs2227933 0.17570
NM_000057.4(BLM):c.3945C>T (p.Leu1315=) rs1063147 0.15526
NM_000057.4(BLM):c.3531C>A (p.Ala1177=) rs2227934 0.15517
NM_000057.4(BLM):c.3961G>A (p.Val1321Ile) rs7167216 0.08093
NM_000057.4(BLM):c.2603C>T (p.Pro868Leu) rs2227935 0.06742
NM_000057.4(BLM):c.419A>G (p.Glu140Gly) rs35886055 0.00958
NM_000057.4(BLM):c.4076+4T>G rs183176301 0.00436
NM_000057.4(BLM):c.410A>G (p.Lys137Arg) rs28384988 0.00434
NM_000057.4(BLM):c.3128C>A (p.Ala1043Asp) rs2229035 0.00421
NM_000057.4(BLM):c.1122T>C (p.His374=) rs28385009 0.00382
NM_000057.4(BLM):c.893C>T (p.Thr298Met) rs28384991 0.00346
NM_000057.4(BLM):c.2160C>T (p.Ile720=) rs28385028 0.00303
NM_000057.4(BLM):c.3613G>A (p.Val1205Ile) rs28385141 0.00245
NM_000057.4(BLM):c.3849G>A (p.Gln1283=) rs140524886 0.00115
NM_000057.4(BLM):c.4077-5T>C rs200653178 0.00005

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