ClinVar Miner

List of variants in gene BLM reported as not provided

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Total variants: 30
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HGVS dbSNP
NM_000057.4(BLM):c.1712T>C (p.Met571Thr) rs587778109
NM_000057.4(BLM):c.1722_1724delinsTAA (p.Leu574_Ala575delinsPheLys) rs587778107
NM_000057.4(BLM):c.1741A>G (p.Thr581Ala) rs587778108
NM_000057.4(BLM):c.178T>A (p.Leu60Ile) rs138542210
NM_000057.4(BLM):c.1877A>T (p.Tyr626Phe) rs374569385
NM_000057.4(BLM):c.1913A>C (p.Asn638Thr) rs587778110
NM_000057.4(BLM):c.1928G>A (p.Arg643His) rs12720097
NM_000057.4(BLM):c.2207_2212delinsTAGATTC (p.Tyr736fs) rs113993962
NM_000057.4(BLM):c.2263A>G (p.Lys755Glu) rs142551229
NM_000057.4(BLM):c.2371C>T (p.Arg791Cys) rs55880859
NM_000057.4(BLM):c.254G>C (p.Arg85Thr) rs141503266
NM_000057.4(BLM):c.2603C>T (p.Pro868Leu) rs2227935
NM_000057.4(BLM):c.2638G>C (p.Glu880Gln) rs201770808
NM_000057.4(BLM):c.2858T>C (p.Ile953Thr) rs587778102
NM_000057.4(BLM):c.3278C>T (p.Ser1093Leu) rs367543017
NM_000057.4(BLM):c.3613G>A (p.Val1205Ile) rs28385141
NM_000057.4(BLM):c.3637G>A (p.Glu1213Lys) rs28385142
NM_000057.4(BLM):c.376C>G (p.Pro126Ala) rs587778106
NM_000057.4(BLM):c.387_389del (p.Lys130del) rs587778105
NM_000057.4(BLM):c.3961G>A (p.Val1321Ile) rs7167216
NM_000057.4(BLM):c.4069G>C (p.Ala1357Pro) rs587778103
NM_000057.4(BLM):c.4102T>C (p.Ser1368Pro) rs587778104
NM_000057.4(BLM):c.410A>G (p.Lys137Arg) rs28384988
NM_000057.4(BLM):c.419A>G (p.Glu140Gly) rs35886055
NM_000057.4(BLM):c.715G>A (p.Asp239Asn) rs200756519
NM_000057.4(BLM):c.842A>C (p.His281Pro) rs202042636
NM_000057.4(BLM):c.847A>G (p.Thr283Ala) rs149598003
NM_000057.4(BLM):c.893C>T (p.Thr298Met) rs28384991
NM_000057.4(BLM):c.968A>G (p.Lys323Arg) rs146504061
NM_000057.4(BLM):c.98C>T (p.Ser33Leu) rs139282091

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