List of variants in gene BLM reported as uncertain significance for not specified

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: 86

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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.1601A>G (p.Asn534Ser)	rs35224686	0.00092
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.43C>T (p.Arg15Cys)	rs148545569	0.00029
NM_000057.4(BLM):c.191A>T (p.Asp64Val)	rs140382474	0.00026
NM_000057.4(BLM):c.3751+10C>T	rs199685140	0.00016
NM_000057.4(BLM):c.274A>G (p.Asn92Asp)	rs200690226	0.00015
NM_000057.4(BLM):c.842A>C (p.His281Pro)	rs202042636	0.00014
NM_000057.4(BLM):c.1519G>A (p.Glu507Lys)	rs192491153	0.00013
NM_000057.4(BLM):c.3044C>T (p.Thr1015Ile)	rs202196488	0.00013
NM_000057.4(BLM):c.2333C>G (p.Ser778Cys)	rs139610577	0.00012
NM_000057.4(BLM):c.2839A>G (p.Ile947Val)	rs189925962	0.00010
NM_000057.4(BLM):c.3310G>A (p.Gly1104Ser)	rs141269464	0.00008
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.542G>T (p.Ser181Ile)	rs587779893	0.00006
NM_000057.4(BLM):c.2371C>T (p.Arg791Cys)	rs55880859	0.00004
NM_000057.4(BLM):c.2432A>G (p.Tyr811Cys)	rs145029382	0.00004
NM_000057.4(BLM):c.2696G>A (p.Arg899Gln)	rs748054605	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.4112C>T (p.Thr1371Met)	rs587779891	0.00003
NM_000057.4(BLM):c.1877A>T (p.Tyr626Phe)	rs374569385	0.00002
NM_000057.4(BLM):c.2171T>C (p.Val724Ala)	rs750687788	0.00002
NM_000057.4(BLM):c.1238A>T (p.Glu413Val)	rs1215111361	0.00001
NM_000057.4(BLM):c.1474T>C (p.Phe492Leu)	rs764182382	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.2551C>G (p.Gln851Glu)	rs767638712	0.00001
NM_000057.4(BLM):c.2661A>G (p.Pro887=)	rs753160480	0.00001
NM_000057.4(BLM):c.3021G>A (p.Met1007Ile)	rs1244649224	0.00001
NM_000057.4(BLM):c.3451C>T (p.Leu1151Phe)	rs1469527799	0.00001
NM_000057.4(BLM):c.3869C>T (p.Ser1290Leu)	rs1031421025	0.00001
NM_000057.4(BLM):c.44G>A (p.Arg15His)	rs752755503	0.00001
NM_000057.4(BLM):c.472G>A (p.Asp158Asn)	rs1210664602	0.00001
NM_000057.3(BLM):c.4080dupG	rs2151202230
NM_000057.4(BLM):c.*6G>A	rs375331228
NM_000057.4(BLM):c.*9TC[1]	rs751726607
NM_000057.4(BLM):c.1009A>G (p.Thr337Ala)
NM_000057.4(BLM):c.1064C>G (p.Pro355Arg)	rs1022898915
NM_000057.4(BLM):c.1075A>C (p.Thr359Pro)	rs1332024999
NM_000057.4(BLM):c.1147A>G (p.Ile383Val)	rs1895933936
NM_000057.4(BLM):c.146T>C (p.Val49Ala)	rs1895601341
NM_000057.4(BLM):c.1592A>C (p.Lys531Thr)	rs1895966276
NM_000057.4(BLM):c.1840G>A (p.Ala614Thr)	rs1895978868
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.205G>A (p.Glu69Lys)	rs746195311
NM_000057.4(BLM):c.2148G>A (p.Leu716=)	rs2151162471
NM_000057.4(BLM):c.2323A>G (p.Arg775Gly)	rs2151165680
NM_000057.4(BLM):c.2407-7del	rs769184675
NM_000057.4(BLM):c.2522T>C (p.Ile841Thr)	rs767086502
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.2662+9A>G	rs2151178205
NM_000057.4(BLM):c.2690C>G (p.Ser897Cys)	rs750600011
NM_000057.4(BLM):c.2729G>A (p.Arg910Lys)	rs1567053290
NM_000057.4(BLM):c.2824-1066del	rs1567055836
NM_000057.4(BLM):c.294A>C (p.Glu98Asp)	rs2151147036
NM_000057.4(BLM):c.2962C>T (p.His988Tyr)	rs1896886993
NM_000057.4(BLM):c.2991T>A (p.Asp997Glu)
NM_000057.4(BLM):c.3005_3019del (p.Lys1002_Met1006del)
NM_000057.4(BLM):c.3047G>C (p.Arg1016Thr)	rs2151187181
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.380C>A (p.Thr127Asn)	rs1895613545
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.3992G>A (p.Arg1331Lys)	rs1060500648
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.796A>G (p.Arg266Gly)	rs1895641246
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
NM_000057.4(BLM):c.976G>A (p.Asp326Asn)	rs1013220474

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