ClinVar Miner

List of variants in gene BLM reported as uncertain significance by EGL Genetic Diagnostics,Eurofins Clinical Diagnostics

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Gene type:
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Total variants: 23
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HGVS dbSNP
NM_000057.4(BLM):c.1086C>T (p.Asp362=) rs375632163
NM_000057.4(BLM):c.11T>C (p.Val4Ala) rs144706057
NM_000057.4(BLM):c.1467G>A (p.Arg489=) rs56257041
NM_000057.4(BLM):c.1601A>G (p.Asn534Ser) rs35224686
NM_000057.4(BLM):c.191A>C (p.Asp64Ala) rs140382474
NM_000057.4(BLM):c.191A>T (p.Asp64Val) rs140382474
NM_000057.4(BLM):c.1992C>T (p.Gly664=) rs886043359
NM_000057.4(BLM):c.2263A>G (p.Lys755Glu) rs142551229
NM_000057.4(BLM):c.2515A>G (p.Lys839Glu) rs201427280
NM_000057.4(BLM):c.2552A>G (p.Gln851Arg) rs1454270314
NM_000057.4(BLM):c.261G>A (p.Lys87=) rs372668612
NM_000057.4(BLM):c.2838A>G (p.Thr946=) rs200850440
NM_000057.4(BLM):c.2919C>T (p.Tyr973=) rs181161119
NM_000057.4(BLM):c.3211G>T (p.Asp1071Tyr) rs794727180
NM_000057.4(BLM):c.3237C>T (p.Asp1079=)
NM_000057.4(BLM):c.3239A>T (p.Asp1080Val)
NM_000057.4(BLM):c.3253G>T (p.Val1085Leu)
NM_000057.4(BLM):c.3625T>A (p.Ser1209Thr) rs1801256
NM_000057.4(BLM):c.3637G>A (p.Glu1213Lys) rs28385142
NM_000057.4(BLM):c.3751+9A>C rs774368488
NM_000057.4(BLM):c.3798T>G (p.Val1266=) rs138831180
NM_000057.4(BLM):c.3849G>A (p.Gln1283=) rs140524886
NM_000057.4(BLM):c.3879A>G (p.Glu1293=) rs28377085

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