List of variants in gene BLM reported as uncertain significance by Fulgent Genetics, Fulgent Genetics

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: 36

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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.968A>G (p.Lys323Arg)	rs146504061	0.00056
NM_000057.4(BLM):c.191A>T (p.Asp64Val)	rs140382474	0.00026
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.3991A>G (p.Arg1331Gly)	rs150631940	0.00010
NM_000057.4(BLM):c.2619G>C (p.Lys873Asn)	rs146723808	0.00006
NM_000057.4(BLM):c.368A>G (p.Gln123Arg)	rs371223446	0.00005
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.2515A>G (p.Lys839Glu)	rs201427280	0.00004
NM_000057.4(BLM):c.3556A>G (p.Lys1186Glu)	rs750532596	0.00004
NM_000057.4(BLM):c.4112C>T (p.Thr1371Met)	rs587779891	0.00003
NM_000057.4(BLM):c.2552A>G (p.Gln851Arg)	rs1454270314	0.00002
NM_000057.4(BLM):c.3751G>C (p.Glu1251Gln)	rs587779888	0.00002
NM_000057.4(BLM):c.488C>T (p.Ser163Phe)	rs745819553	0.00002
NM_000057.4(BLM):c.1277C>T (p.Ser426Leu)	rs768127491	0.00001
NM_000057.4(BLM):c.2271C>G (p.Asp757Glu)	rs773761682	0.00001
NM_000057.4(BLM):c.2351A>G (p.Tyr784Cys)	rs753635754	0.00001
NM_000057.4(BLM):c.264C>A (p.Asp88Glu)	rs757984551	0.00001
NM_000057.4(BLM):c.2674A>G (p.Ile892Val)	rs764587569	0.00001
NM_000057.4(BLM):c.2975T>C (p.Phe992Ser)	rs371418699	0.00001
NM_000057.4(BLM):c.3210+4A>G	rs776621429	0.00001
NM_000057.4(BLM):c.3416G>A (p.Arg1139Gln)	rs771776126	0.00001
NM_000057.4(BLM):c.3505G>A (p.Ala1169Thr)	rs777492549	0.00001
NM_000057.4(BLM):c.4177A>G (p.Asn1393Asp)	rs548600410	0.00001
NM_000057.4(BLM):c.1132_1134delinsTAT (p.His378Tyr)	rs1555419713
NM_000057.4(BLM):c.1195G>A (p.Glu399Lys)	rs538728271
NM_000057.4(BLM):c.1490A>C (p.Gln497Pro)	rs368547042
NM_000057.4(BLM):c.14C>T (p.Pro5Leu)	rs1567034056
NM_000057.4(BLM):c.205G>A (p.Glu69Lys)	rs746195311
NM_000057.4(BLM):c.2215G>A (p.Gly739Ser)	rs745642690
NM_000057.4(BLM):c.2480T>A (p.Met827Lys)	rs748250819
NM_000057.4(BLM):c.3536C>T (p.Thr1179Ile)	rs1555424324
NM_000057.4(BLM):c.3827C>A (p.Ala1276Glu)	rs760554566
NM_000057.4(BLM):c.813GAA[2] (p.Lys273del)	rs587779895

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