List of variants in gene BLM reported as likely benign by PreventionGenetics, part of Exact Sciences

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: 35

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HGVS	dbSNP	gnomAD frequency
NM_000057.4(BLM):c.2119C>T (p.Pro707Ser)	rs146077918	0.00172
NM_000057.4(BLM):c.2263A>G (p.Lys755Glu)	rs142551229	0.00140
NM_000057.4(BLM):c.11T>C (p.Val4Ala)	rs144706057	0.00102
NM_000057.4(BLM):c.3879A>G (p.Glu1293=)	rs28377085	0.00098
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.3798T>G (p.Val1266=)	rs138831180	0.00043
NM_000057.4(BLM):c.3813G>A (p.Leu1271=)	rs376082823	0.00039
NM_000057.4(BLM):c.759G>A (p.Gln253=)	rs34580216	0.00034
NM_000057.4(BLM):c.3041A>G (p.His1014Arg)	rs145022945	0.00032
NM_000057.4(BLM):c.2838A>G (p.Thr946=)	rs200850440	0.00025
NM_000057.4(BLM):c.3225A>G (p.Arg1075=)	rs7171673	0.00024
NM_000057.4(BLM):c.174T>C (p.Pro58=)	rs576862402	0.00023
NM_000057.4(BLM):c.3828G>A (p.Ala1276=)	rs369383272	0.00013
NM_000057.4(BLM):c.2598A>T (p.Val866=)	rs574053990	0.00010
NM_000057.4(BLM):c.178T>A (p.Leu60Ile)	rs138542210	0.00007
NM_000057.4(BLM):c.1044G>A (p.Met348Ile)	rs184657475	0.00006
NM_000057.4(BLM):c.114A>G (p.Lys38=)	rs770017301	0.00006
NM_000057.4(BLM):c.1194C>T (p.Asn398=)	rs202103556	0.00005
NM_000057.4(BLM):c.2025G>A (p.Ala675=)	rs781424357	0.00005
NM_000057.4(BLM):c.129A>G (p.Ser43=)	rs767605181	0.00003
NM_000057.4(BLM):c.2070G>A (p.Pro690=)	rs148078150	0.00001
NM_000057.4(BLM):c.2505C>G (p.Pro835=)	rs1023396216	0.00001
NM_000057.4(BLM):c.2661A>G (p.Pro887=)	rs753160480	0.00001
NM_000057.4(BLM):c.3210+10G>T	rs765057634	0.00001
NM_000057.4(BLM):c.3210+4A>G	rs776621429	0.00001
NM_000057.4(BLM):c.3348C>T (p.Asp1116=)	rs372697241	0.00001
NM_000057.4(BLM):c.3867A>G (p.Thr1289=)	rs759000443	0.00001
NM_000057.4(BLM):c.*6G>T
NM_000057.4(BLM):c.2844A>G (p.Ala948=)
NM_000057.4(BLM):c.3045A>G (p.Thr1015=)	rs966206627
NM_000057.4(BLM):c.3210+44del	rs3214113
NM_000057.4(BLM):c.3900C>T (p.Ser1300=)	rs769564626
NM_000057.4(BLM):c.4191G>T (p.Gly1397=)
NM_000057.4(BLM):c.960-9del

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