List of variants in gene BLM reported as uncertain significance by Eurofins NTD LLC (GA)

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: 23

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HGVS	dbSNP	gnomAD frequency
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.11T>C (p.Val4Ala)	rs144706057	0.00102
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.2919C>T (p.Tyr973=)	rs181161119	0.00066
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.191A>T (p.Asp64Val)	rs140382474	0.00026
NM_000057.4(BLM):c.2838A>G (p.Thr946=)	rs200850440	0.00025
NM_000057.4(BLM):c.1086C>T (p.Asp362=)	rs375632163	0.00011
NM_000057.4(BLM):c.3751+9A>C	rs774368488	0.00007
NM_000057.4(BLM):c.2515A>G (p.Lys839Glu)	rs201427280	0.00004
NM_000057.4(BLM):c.2552A>G (p.Gln851Arg)	rs1454270314	0.00002
NM_000057.4(BLM):c.3237C>T (p.Asp1079=)	rs148237075	0.00002
NM_000057.4(BLM):c.261G>A (p.Lys87=)	rs372668612	0.00001
NM_000057.4(BLM):c.3211G>T (p.Asp1071Tyr)	rs794727180	0.00001
NM_000057.4(BLM):c.3637G>A (p.Glu1213Lys)	rs28385142	0.00001
NM_000057.4(BLM):c.191A>C (p.Asp64Ala)	rs140382474
NM_000057.4(BLM):c.1992C>T (p.Gly664=)	rs886043359
NM_000057.4(BLM):c.3239A>T (p.Asp1080Val)	rs775383361
NM_000057.4(BLM):c.3253G>T (p.Val1085Leu)	rs761235042

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