ClinVar Miner

List of variants in gene BLM reported by CeGaT Center for Human Genetics Tuebingen

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Gene type:
ClinVar version:
Total variants: 36
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HGVS dbSNP gnomAD frequency
NM_000057.4(BLM):c.4076+4T>G rs183176301 0.00436
NM_000057.4(BLM):c.1928G>A (p.Arg643His) rs12720097 0.00278
NM_000057.4(BLM):c.2119C>T (p.Pro707Ser) rs146077918 0.00172
NM_000057.4(BLM):c.2268A>G (p.Lys756=) rs146013879 0.00163
NM_000057.4(BLM):c.3849G>A (p.Gln1283=) rs140524886 0.00115
NM_000057.4(BLM):c.11T>C (p.Val4Ala) rs144706057 0.00102
NM_000057.4(BLM):c.2919C>T (p.Tyr973=) rs181161119 0.00066
NM_000057.4(BLM):c.465T>C (p.Asp155=) rs185349681 0.00051
NM_000057.4(BLM):c.3798T>G (p.Val1266=) rs138831180 0.00043
NM_000057.4(BLM):c.1467G>A (p.Arg489=) rs56257041 0.00034
NM_000057.4(BLM):c.3625T>A (p.Ser1209Thr) rs1801256 0.00031
NM_000057.4(BLM):c.1642C>T (p.Gln548Ter) rs200389141 0.00017
NM_000057.4(BLM):c.2333C>G (p.Ser778Cys) rs139610577 0.00012
NM_000057.4(BLM):c.1315A>G (p.Met439Val) rs201231857 0.00011
NM_000057.4(BLM):c.1933C>T (p.Gln645Ter) rs373525781 0.00009
NM_000057.4(BLM):c.2293G>A (p.Val765Ile) rs191789336 0.00009
NM_000057.4(BLM):c.2739C>T (p.Leu913=) rs759223856 0.00009
NM_000057.4(BLM):c.3427G>A (p.Glu1143Lys) rs140387675 0.00008
NM_000057.4(BLM):c.2237C>T (p.Ala746Val) rs769498533 0.00006
NM_000057.4(BLM):c.2898C>G (p.Leu966=) rs201220226 0.00006
NM_000057.4(BLM):c.1194C>T (p.Asn398=) rs202103556 0.00005
NM_000057.4(BLM):c.2106T>A (p.Pro702=) rs529421306 0.00003
NM_000057.4(BLM):c.2015A>G (p.Gln672Arg) rs747281324 0.00001
NM_000057.4(BLM):c.3267A>G (p.Gln1089=) rs1396484162 0.00001
NM_000057.4(BLM):c.3609G>A (p.Ala1203=) rs151114049 0.00001
NM_000057.4(BLM):c.3875-2A>G rs150421256 0.00001
NM_000057.4(BLM):c.417A>G (p.Leu139=) rs756759106 0.00001
GRCh37/hg19 15q26.1(chr15:91310140-91310253)x1
NM_000057.4(BLM):c.1108C>T (p.Gln370Ter) rs1895931425
NM_000057.4(BLM):c.1992C>G (p.Gly664=) rs886043359
NM_000057.4(BLM):c.2207_2212delinsTAGATTC (p.Tyr736fs) rs113993962
NM_000057.4(BLM):c.240C>T (p.Thr80=) rs1895606265
NM_000057.4(BLM):c.2940T>G (p.Ala980=) rs1596257223
NM_000057.4(BLM):c.3045A>G (p.Thr1015=) rs966206627
NM_000057.4(BLM):c.3496C>T (p.Gln1166Ter) rs1596267627
NM_000057.4(BLM):c.87A>G (p.Lys29=) rs1895535691

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