List of variants in gene BLM reported as uncertain significance by Genetic Services Laboratory, University of Chicago

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 47

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HGVS	dbSNP	gnomAD frequency
NM_000057.4(BLM):c.11T>C (p.Val4Ala)	rs144706057	0.00102
NM_000057.4(BLM):c.2362C>A (p.Leu788Ile)	rs149754073	0.00086
NM_000057.4(BLM):c.968A>G (p.Lys323Arg)	rs146504061	0.00056
NM_000057.4(BLM):c.274A>G (p.Asn92Asp)	rs200690226	0.00015
NM_000057.4(BLM):c.1519G>A (p.Glu507Lys)	rs192491153	0.00013
NM_000057.4(BLM):c.2333C>G (p.Ser778Cys)	rs139610577	0.00012
NM_000057.4(BLM):c.3427G>A (p.Glu1143Lys)	rs140387675	0.00008
NM_000057.4(BLM):c.178T>A (p.Leu60Ile)	rs138542210	0.00007
NM_000057.4(BLM):c.2720C>T (p.Thr907Met)	rs367953471	0.00007
NM_000057.4(BLM):c.1044G>A (p.Met348Ile)	rs184657475	0.00006
NM_000057.4(BLM):c.1931T>A (p.Phe644Tyr)	rs371023654	0.00006
NM_000057.4(BLM):c.2432A>G (p.Tyr811Cys)	rs145029382	0.00004
NM_000057.4(BLM):c.3031G>A (p.Gly1011Arg)	rs370073229	0.00004
NM_000057.4(BLM):c.451A>G (p.Ile151Val)	rs780472557	0.00004
NM_000057.4(BLM):c.2822A>G (p.Gln941Arg)	rs762267785	0.00003
NM_000057.4(BLM):c.1238A>T (p.Glu413Val)	rs1215111361	0.00001
NM_000057.4(BLM):c.2360A>G (p.Lys787Arg)	rs778695045	0.00001
NM_000057.4(BLM):c.2367G>C (p.Leu789Phe)	rs1060500651	0.00001
NM_000057.4(BLM):c.2474C>T (p.Pro825Leu)	rs749632465	0.00001
NM_000057.4(BLM):c.2489C>T (p.Thr830Met)	rs759545027	0.00001
NM_000057.4(BLM):c.2490G>A (p.Thr830=)	rs765233032	0.00001
NM_000057.4(BLM):c.2661A>G (p.Pro887=)	rs753160480	0.00001
NM_000057.4(BLM):c.3869C>T (p.Ser1290Leu)	rs1031421025	0.00001
NM_000057.4(BLM):c.*6G>A	rs375331228
NM_000057.4(BLM):c.*9TC[1]	rs751726607
NM_000057.4(BLM):c.1064C>G (p.Pro355Arg)	rs1022898915
NM_000057.4(BLM):c.146T>C (p.Val49Ala)	rs1895601341
NM_000057.4(BLM):c.191A>G (p.Asp64Gly)	rs140382474
NM_000057.4(BLM):c.1934A>G (p.Gln645Arg)	rs377563699
NM_000057.4(BLM):c.2148G>A (p.Leu716=)	rs2151162471
NM_000057.4(BLM):c.2407-7del	rs769184675
NM_000057.4(BLM):c.2556G>T (p.Val852=)	rs1896650229
NM_000057.4(BLM):c.2594A>C (p.Tyr865Ser)	rs777842626
NM_000057.4(BLM):c.2729G>A (p.Arg910Lys)	rs1567053290
NM_000057.4(BLM):c.294A>C (p.Glu98Asp)	rs2151147036
NM_000057.4(BLM):c.2991T>A (p.Asp997Glu)
NM_000057.4(BLM):c.3262G>A (p.Val1088Ile)	rs934966838
NM_000057.4(BLM):c.3272A>G (p.His1091Arg)	rs750954124
NM_000057.4(BLM):c.382G>A (p.Val128Ile)	rs1269873284
NM_000057.4(BLM):c.387_389del (p.Lys130del)	rs587778105
NM_000057.4(BLM):c.4076+4T>C	rs183176301
NM_000057.4(BLM):c.4169C>T (p.Ser1390Leu)	rs2151202361
NM_000057.4(BLM):c.540A>C (p.Val180=)	rs763776756
NM_000057.4(BLM):c.544A>G (p.Thr182Ala)	rs1060500643
NM_000057.4(BLM):c.852G>A (p.Glu284=)	rs2151149592
NM_000057.4(BLM):c.887A>G (p.Tyr296Cys)	rs775005766
NM_000057.4(BLM):c.972C>T (p.Asp324=)	rs769094708

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