ClinVar Miner

List of variants in gene BLM reported by Preventiongenetics, part of Exact Sciences

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Gene type:
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Total variants: 29
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HGVS dbSNP gnomAD frequency
NM_000057.4(BLM):c.2555+7T>C rs3815003 0.37072
NM_000057.4(BLM):c.3102G>A (p.Thr1034=) rs2227933 0.17570
NM_000057.4(BLM):c.3358+32T>G rs17273842 0.16733
NM_000057.4(BLM):c.2308-50G>A rs17273206 0.16462
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.4076+4T>G rs183176301 0.00436
NM_000057.4(BLM):c.893C>T (p.Thr298Met) rs28384991 0.00346
NM_000057.4(BLM):c.1928G>A (p.Arg643His) rs12720097 0.00278
NM_000057.4(BLM):c.2362C>A (p.Leu788Ile) rs149754073 0.00086
NM_000057.4(BLM):c.3798T>G (p.Val1266=) rs138831180 0.00043
NM_000057.4(BLM):c.759G>A (p.Gln253=) rs34580216 0.00034
NM_000057.4(BLM):c.3625T>A (p.Ser1209Thr) rs1801256 0.00031
NM_000057.4(BLM):c.43C>T (p.Arg15Cys) rs148545569 0.00029
NM_000057.4(BLM):c.1927C>T (p.Arg643Cys) rs373090621 0.00018
NM_000057.4(BLM):c.842A>C (p.His281Pro) rs202042636 0.00014
NM_000057.4(BLM):c.1933C>T (p.Gln645Ter) rs373525781 0.00009
NM_000057.4(BLM):c.2315C>T (p.Ala772Val) rs765478171 0.00006
NM_000057.4(BLM):c.808G>A (p.Glu270Lys) rs762053925 0.00006
NM_000057.4(BLM):c.1936A>G (p.Ser646Gly) rs370293537 0.00003
NM_000057.4(BLM):c.4067A>G (p.Lys1356Arg) rs945181516 0.00001
NM_000057.4(BLM):c.1681T>A (p.Phe561Ile)
NM_000057.4(BLM):c.248A>G (p.Gln83Arg) rs377192173
NM_000057.4(BLM):c.3210+44del rs3214113
NM_000057.4(BLM):c.3261del (p.Phe1087fs) rs1319786857
NM_000057.4(BLM):c.757C>G (p.Gln253Glu)
NM_000057.4(BLM):c.960-4G>A rs1555418976

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