List of variants in gene BLM reported as likely benign 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: 34

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HGVS	dbSNP	gnomAD frequency
NM_000057.4(BLM):c.3359-121_3359-120insA	rs11377009	0.67736
NM_000057.4(BLM):c.2555+7T>C	rs3815003	0.37072
NM_000057.4(BLM):c.3102G>A (p.Thr1034=)	rs2227933	0.17570
NM_000057.4(BLM):c.3945C>T (p.Leu1315=)	rs1063147	0.15526
NM_000057.4(BLM):c.3531C>A (p.Ala1177=)	rs2227934	0.15517
NM_000057.4(BLM):c.3961G>A (p.Val1321Ile)	rs7167216	0.08093
NM_000057.4(BLM):c.2603C>T (p.Pro868Leu)	rs2227935	0.06742
NM_000057.4(BLM):c.1928G>A (p.Arg643His)	rs12720097	0.00278
NM_000057.4(BLM):c.4077-10C>T	rs145310008	0.00233
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.2263A>G (p.Lys755Glu)	rs142551229	0.00140
NM_000057.4(BLM):c.3849G>A (p.Gln1283=)	rs140524886	0.00115
NM_000057.4(BLM):c.3879A>G (p.Glu1293=)	rs28377085	0.00098
NM_000057.4(BLM):c.1601A>G (p.Asn534Ser)	rs35224686	0.00092
NM_000057.4(BLM):c.3592G>A (p.Val1198Met)	rs142928725	0.00090
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.645C>T (p.Ser215=)	rs56218710	0.00045
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.3041A>G (p.His1014Arg)	rs145022945	0.00032
NM_000057.4(BLM):c.3625T>A (p.Ser1209Thr)	rs1801256	0.00031
NM_000057.4(BLM):c.3225A>G (p.Arg1075=)	rs7171673	0.00024
NM_000057.4(BLM):c.3828G>A (p.Ala1276=)	rs369383272	0.00013
NM_000057.4(BLM):c.1086C>T (p.Asp362=)	rs375632163	0.00011
NM_000057.4(BLM):c.1315A>G (p.Met439Val)	rs201231857	0.00011
NM_000057.4(BLM):c.2739C>T (p.Leu913=)	rs759223856	0.00009
NM_000057.4(BLM):c.3921C>T (p.Pro1307=)	rs149286215	0.00003
NM_000057.4(BLM):c.204C>T (p.Thr68=)	rs199927688	0.00001
NM_000057.4(BLM):c.3267A>G (p.Gln1089=)	rs1396484162	0.00001
NM_000057.4(BLM):c.1782A>G (p.Lys594=)	rs2151158960
NM_000057.4(BLM):c.4077-59_4077-57dup	rs10685387
NM_000057.4(BLM):c.4209G>A (p.Lys1403=)	rs1254277623

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