List of variants in gene NEBL reported as uncertain significance by Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

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: 38

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HGVS	dbSNP	gnomAD frequency
NM_006393.3(NEBL):c.267C>G (p.Tyr89Ter)	rs147622517	0.00154
NM_006393.3(NEBL):c.682C>G (p.Gln228Glu)	rs143644290	0.00030
NM_006393.3(NEBL):c.2417C>T (p.Thr806Ile)	rs200705273	0.00020
NM_006393.3(NEBL):c.14T>C (p.Val5Ala)	rs145770601	0.00019
NM_006393.3(NEBL):c.1837C>T (p.Arg613Ter)	rs146471913	0.00019
NM_006393.3(NEBL):c.369+5G>A	rs200249470	0.00019
NM_006393.3(NEBL):c.109_110del (p.Leu37fs)	rs762005342	0.00014
NM_006393.3(NEBL):c.259-13T>G	rs923819811	0.00008
NM_006393.3(NEBL):c.2346+6G>A	rs201822024	0.00006
NM_006393.3(NEBL):c.2398G>A (p.Val800Ile)	rs367986765	0.00006
NM_006393.3(NEBL):c.1108C>A (p.Gln370Lys)	rs146198369	0.00004
NM_006393.3(NEBL):c.1205A>C (p.Tyr402Ser)	rs375569591	0.00004
NM_006393.3(NEBL):c.182C>T (p.Ser61Phe)	rs543765307	0.00004
NM_006393.3(NEBL):c.561G>C (p.Gln187His)	rs75301590	0.00004
NM_213569.2(NEBL):c.125A>G (p.Asn42Ser)	rs727503340	0.00004
NM_006393.3(NEBL):c.113G>T (p.Ser38Ile)	rs375265257	0.00003
NM_006393.3(NEBL):c.903+1G>T	rs775057540	0.00003
NM_006393.3(NEBL):c.1963-13C>T	rs727504904	0.00002
NM_006393.3(NEBL):c.205A>G (p.Thr69Ala)	rs780384504	0.00002
NM_006393.3(NEBL):c.2329C>T (p.Gln777Ter)	rs752922937	0.00002
NM_006393.3(NEBL):c.2485G>A (p.Val829Met)	rs727504979	0.00002
NM_006393.3(NEBL):c.599G>C (p.Gly200Ala)	rs727503336	0.00002
NM_006393.3(NEBL):c.1442C>T (p.Ala481Val)	rs1237891829	0.00001
NM_006393.3(NEBL):c.1617del (p.Ser539fs)	rs727504917	0.00001
NM_006393.3(NEBL):c.1904C>T (p.Ala635Val)	rs727503335	0.00001
NM_006393.3(NEBL):c.2588C>G (p.Ser863Cys)	rs150152361	0.00001
NM_006393.3(NEBL):c.2681G>A (p.Gly894Glu)	rs876657926	0.00001
NM_006393.3(NEBL):c.989A>G (p.Asn330Ser)	rs876657927	0.00001
NM_006393.2(NEBL):c.(?_1228)-240_(1338_?)+281del
NM_006393.3(NEBL):c.1028A>G (p.Tyr343Cys)	rs876657925
NM_006393.3(NEBL):c.1496T>G (p.Met499Arg)	rs727504620
NM_006393.3(NEBL):c.1963-3C>T	rs727504683
NM_006393.3(NEBL):c.2176G>A (p.Ala726Thr)	rs397517205
NM_006393.3(NEBL):c.2499G>T (p.Arg833Ser)	rs727505285
NM_006393.3(NEBL):c.383A>T (p.Gln128Leu)	rs139809958
NM_006393.3(NEBL):c.625G>T (p.Ala209Ser)	rs142138590
NM_213569.2(NEBL):c.250-10T>G	rs727503339
NM_213569.2(NEBL):c.65A>T (p.Asp22Val)	rs727503341

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