ClinVar Miner

Variants in gene NEBL with conflicting interpretations "benign" and "likely benign"

Submission 1 (benign) minimum review status: Submission 1 (benign) method:
Submission 2 (likely benign) minimum review status: Submission 2 (likely benign) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 31
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HGVS dbSNP gnomAD frequency
NM_006393.3(NEBL):c.1051A>G (p.Met351Val) rs4025981 0.05741
NM_006393.3(NEBL):c.1962T>A (p.Asn654Lys) rs4748728 0.05648
NM_006393.3(NEBL):c.1132G>C (p.Asp378His) rs41277370 0.05503
NM_006393.3(NEBL):c.656C>A (p.Ala219Asp) rs2296610 0.01104
NM_006393.3(NEBL):c.2182A>G (p.Thr728Ala) rs71535732 0.00843
NM_006393.3(NEBL):c.191A>G (p.Lys64Arg) rs71578975 0.00786
NM_213569.2(NEBL):c.357T>C (p.Asn119=) rs115708584 0.00720
NM_006393.3(NEBL):c.1861A>G (p.Ile621Val) rs79718972 0.00532
NM_006393.3(NEBL):c.11C>T (p.Pro4Leu) rs114918858 0.00501
NM_006393.3(NEBL):c.180G>C (p.Lys60Asn) rs41277374 0.00382
NM_006393.3(NEBL):c.480+3A>G rs71578983 0.00336
NM_006393.3(NEBL):c.1450-9T>G rs45628140 0.00280
NM_006393.3(NEBL):c.154-11C>A rs41277376 0.00252
NM_006393.3(NEBL):c.2654C>T (p.Ser885Phe) rs143584663 0.00245
NM_006393.3(NEBL):c.109T>C (p.Leu37=) rs140734883 0.00213
NM_006393.3(NEBL):c.604G>A (p.Gly202Arg) rs137973321 0.00210
NM_006393.3(NEBL):c.1869+8C>G rs188529864 0.00188
NM_006393.3(NEBL):c.267C>G (p.Tyr89Ter) rs147622517 0.00154
NM_006393.3(NEBL):c.2685C>T (p.Asp895=) rs140245727 0.00135
NM_006393.3(NEBL):c.624C>T (p.Pro208=) rs111854914 0.00124
NM_006393.3(NEBL):c.2054C>T (p.Ala685Val) rs146218038 0.00051
NM_006393.3(NEBL):c.1962+7A>G rs371630900 0.00036
NM_006393.3(NEBL):c.1449+14G>A rs373699154 0.00022
NM_006393.3(NEBL):c.2673A>G (p.Thr891=) rs202127185 0.00022
NM_006393.3(NEBL):c.1728T>C (p.Asp576=) rs1528182 0.00019
NM_006393.3(NEBL):c.2307T>C (p.Ala769=) rs144815863 0.00018
NM_006393.3(NEBL):c.120A>G (p.Glu40=) rs397517203 0.00009
NM_006393.3(NEBL):c.153+15T>G rs397517204 0.00003
NM_006393.3(NEBL):c.2820C>T (p.His940=) rs532565487 0.00001
NM_006393.3(NEBL):c.2913C>T (p.Asp971=) rs575423101 0.00001
NM_006393.3(NEBL):c.2519-2del rs754453916

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