ClinVar Miner

List of variants in gene BLM reported by GeneKor MSA

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Gene type:
ClinVar version:
Total variants: 18
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HGVS dbSNP
NM_000057.4(BLM):c.11T>C (p.Val4Ala) rs144706057
NM_000057.4(BLM):c.1315A>G (p.Met439Val) rs201231857
NM_000057.4(BLM):c.1556A>G (p.Tyr519Cys) rs1567041220
NM_000057.4(BLM):c.1642C>T (p.Gln548Ter) rs200389141
NM_000057.4(BLM):c.191A>T (p.Asp64Val) rs140382474
NM_000057.4(BLM):c.2867C>T (p.Pro956Leu)
NM_000057.4(BLM):c.3014T>C (p.Ile1005Thr)
NM_000057.4(BLM):c.3041A>G (p.His1014Arg) rs145022945
NM_000057.4(BLM):c.3416G>C (p.Arg1139Pro) rs771776126
NM_000057.4(BLM):c.3427G>A (p.Glu1143Lys) rs140387675
NM_000057.4(BLM):c.3879A>G (p.Glu1293=) rs28377085
NM_000057.4(BLM):c.3970C>T (p.His1324Tyr) rs748943489
NM_000057.4(BLM):c.4076+4T>G rs183176301
NM_000057.4(BLM):c.4214T>C (p.Ile1405Thr) rs763323767
NM_000057.4(BLM):c.887A>T (p.Tyr296Phe)
NM_000057.4(BLM):c.888T>C (p.Tyr296=)
NM_000057.4(BLM):c.955C>T (p.Leu319Phe) rs1567036793
NM_000057.4(BLM):c.98+6T>G rs886051550

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