ClinVar Miner

List of variants in gene NEBL reported as uncertain significance for not provided

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Gene type:
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Total variants: 50
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HGVS dbSNP gnomAD frequency
NM_006393.3(NEBL):c.604G>A (p.Gly202Arg) rs137973321 0.00210
NM_006393.3(NEBL):c.908A>G (p.Glu303Gly) rs139610204 0.00036
NM_006393.3(NEBL):c.827T>C (p.Met276Thr) rs141285752 0.00033
NM_006393.3(NEBL):c.682C>G (p.Gln228Glu) rs143644290 0.00030
NM_006393.3(NEBL):c.82-4A>G rs368268112 0.00021
NM_006393.3(NEBL):c.2417C>T (p.Thr806Ile) rs200705273 0.00020
NM_006393.3(NEBL):c.1837C>T (p.Arg613Ter) rs146471913 0.00019
NM_006393.3(NEBL):c.1227+5G>A rs370026081 0.00014
NM_006393.3(NEBL):c.214C>A (p.Pro72Thr) rs150000482 0.00012
NM_006393.3(NEBL):c.1652C>T (p.Thr551Ile) rs191012363 0.00009
NM_006393.3(NEBL):c.1540G>T (p.Ala514Ser) rs781572930 0.00008
NM_006393.3(NEBL):c.1946A>G (p.Gln649Arg) rs770416802 0.00008
NM_006393.3(NEBL):c.1225G>A (p.Glu409Lys) rs767565380 0.00006
NM_006393.3(NEBL):c.1721T>C (p.Ile574Thr) rs754884291 0.00006
NM_006393.3(NEBL):c.326T>C (p.Ile109Thr) rs371620771 0.00006
NM_006393.3(NEBL):c.1108C>A (p.Gln370Lys) rs146198369 0.00004
NM_006393.3(NEBL):c.1316G>A (p.Arg439Gln) rs755916272 0.00004
NM_006393.3(NEBL):c.1997C>T (p.Pro666Leu) rs771905060 0.00004
NM_006393.3(NEBL):c.625G>A (p.Ala209Thr) rs142138590 0.00004
NM_006393.3(NEBL):c.872A>G (p.His291Arg) rs147853594 0.00004
NM_006393.3(NEBL):c.1639C>T (p.Arg547Ter) rs149647815 0.00003
NM_006393.3(NEBL):c.2644C>T (p.Arg882Ter) rs151012132 0.00003
NM_006393.3(NEBL):c.798+1G>A rs746179839 0.00003
NM_006393.3(NEBL):c.16T>C (p.Phe6Leu) rs777445403 0.00002
NM_006393.3(NEBL):c.1608G>T (p.Met536Ile) rs794729078 0.00001
NM_006393.3(NEBL):c.1613T>A (p.Val538Glu) rs534382445 0.00001
NM_006393.3(NEBL):c.1776G>A (p.Ala592=) rs113406843 0.00001
NM_006393.3(NEBL):c.2704G>A (p.Glu902Lys) rs761425280 0.00001
NM_006393.3(NEBL):c.2914G>A (p.Glu972Lys) rs1554769095 0.00001
NM_006393.3(NEBL):c.676T>C (p.Ser226Pro) rs768861339 0.00001
GRCh37/hg19 10p12.31(chr10:20648237-21129533)x3
GRCh37/hg19 10p12.31(chr10:21159723-21284409)x3
GRCh37/hg19 10p12.31(chr10:21164208-21184413)x3
NM_006393.3(NEBL):c.1156dup (p.Arg386fs) rs1554784067
NM_006393.3(NEBL):c.1174G>A (p.Asp392Asn) rs1588767821
NM_006393.3(NEBL):c.1365_1366del (p.Ile456fs) rs1554781158
NM_006393.3(NEBL):c.1377G>T (p.Gly459=) rs1310607610
NM_006393.3(NEBL):c.1475C>G (p.Thr492Ser) rs1299663441
NM_006393.3(NEBL):c.1640G>A (p.Arg547Gln) rs747238199
NM_006393.3(NEBL):c.1775C>A (p.Ala592Glu) rs146275785
NM_006393.3(NEBL):c.1790A>C (p.Lys597Thr)
NM_006393.3(NEBL):c.2241+1G>A
NM_006393.3(NEBL):c.2271G>A (p.Met757Ile) rs794729079
NM_006393.3(NEBL):c.2612-6A>G rs377317796
NM_006393.3(NEBL):c.276del (p.Ile93fs) rs1554799292
NM_006393.3(NEBL):c.348dup (p.Val117fs) rs1356025751
NM_006393.3(NEBL):c.383A>G (p.Gln128Arg) rs139809958
NM_006393.3(NEBL):c.383A>T (p.Gln128Leu) rs139809958
NM_006393.3(NEBL):c.658G>A (p.Val220Met) rs571563897
NM_006393.3(NEBL):c.67_72del (p.Asn23_Glu24del) rs778962398

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