ClinVar Miner

List of variants in gene NEB reported as pathogenic for not provided

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Total variants: 61
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HGVS dbSNP gnomAD frequency
NM_001164508.2(NEB):c.3255+1G>A rs375628303 0.00006
NM_001164508.2(NEB):c.9619-2A>G rs375145370 0.00004
NM_001164508.2(NEB):c.12018+1G>A rs762278237 0.00003
NM_001164508.2(NEB):c.19836+1G>A rs1446930968 0.00003
NM_001164508.2(NEB):c.20659C>T (p.Arg6887Ter) rs749452641 0.00003
NM_001164508.2(NEB):c.11627G>A (p.Trp3876Ter) rs776569219 0.00002
NM_001164508.2(NEB):c.9046C>T (p.Arg3016Ter) rs1057517977 0.00002
NM_001164508.2(NEB):c.1152+1G>A rs398124167 0.00001
NM_001164508.2(NEB):c.17118+1G>A rs747946275 0.00001
NM_001164508.2(NEB):c.17262G>A (p.Trp5754Ter) rs1057518200 0.00001
NM_001164508.2(NEB):c.19405C>T (p.Arg6469Ter) rs1553740233 0.00001
NM_001164508.2(NEB):c.19944G>A (p.Ser6648=) rs201553266 0.00001
NM_001164508.2(NEB):c.294+2T>C rs773952935 0.00001
NM_001164508.2(NEB):c.5574C>G (p.Tyr1858Ter) rs781185019 0.00001
NM_001164508.2(NEB):c.78+1G>A rs778593702 0.00001
GRCh37/hg19 2q23.3(chr2:152434811-152466339)x1
NM_001164508.2(NEB):c.11184del (p.Lys3728fs) rs1553901624
NM_001164508.2(NEB):c.11585_11586insG (p.Tyr3862Ter) rs2153991581
NM_001164508.2(NEB):c.11806-1G>A rs886041851
NM_001164508.2(NEB):c.12221dup (p.Thr4075fs) rs1553883480
NM_001164508.2(NEB):c.12262G>T (p.Glu4088Ter) rs1356997734
NM_001164508.2(NEB):c.1266T>A (p.Tyr422Ter) rs2149360884
NM_001164508.2(NEB):c.13788+1G>A rs1553862061
NM_001164508.2(NEB):c.14747_14748del (p.Lys4916fs) rs2153875539
NM_001164508.2(NEB):c.1569+1G>A rs1553605553
NM_001164508.2(NEB):c.1570-2A>G rs1553603958
NM_001164508.2(NEB):c.15781G>T (p.Glu5261Ter) rs1391372707
NM_001164508.2(NEB):c.16620T>A (p.Tyr5540Ter) rs886041998
NM_001164508.2(NEB):c.16704+1G>A rs1227806763
NM_001164508.2(NEB):c.17233C>T (p.Arg5745Ter) rs1427371913
NM_001164508.2(NEB):c.17541dup (p.Tyr5848fs) rs886043631
NM_001164508.2(NEB):c.17557_17558del (p.Glu5853fs) rs886044005
NM_001164508.2(NEB):c.18157-2A>G rs925947627
NM_001164508.2(NEB):c.18830_18831del (p.Thr6277fs) rs1553762626
NM_001164508.2(NEB):c.18862_18872del (p.Val6288fs) rs886042141
NM_001164508.2(NEB):c.19078C>T (p.Gln6360Ter) rs2153703181
NM_001164508.2(NEB):c.20554G>T (p.Glu6852Ter) rs777819332
NM_001164508.2(NEB):c.2065dup (p.Tyr689fs) rs1576517390
NM_001164508.2(NEB):c.2836-2A>G rs1208297049
NM_001164508.2(NEB):c.3084C>G (p.Tyr1028Ter) rs2099402392
NM_001164508.2(NEB):c.3255+1G>T rs375628303
NM_001164508.2(NEB):c.3473_3488del (p.Asn1158fs) rs1463906422
NM_001164508.2(NEB):c.3726dup (p.Ser1243fs) rs2154209614
NM_001164508.2(NEB):c.3987+1G>A rs780022652
NM_001164508.2(NEB):c.3987+1_3987+2delinsTG rs786204576
NM_001164508.2(NEB):c.412C>T (p.Arg138Ter) rs1057517360
NM_001164508.2(NEB):c.4417C>T (p.Arg1473Ter) rs2099279723
NM_001164508.2(NEB):c.4549_4553del (p.Tyr1516_Thr1517insTer) rs2154185721
NM_001164508.2(NEB):c.4602del (p.Asn1534fs) rs2154185591
NM_001164508.2(NEB):c.5722del (p.Ser1908fs) rs1553484601
NM_001164508.2(NEB):c.5768del (p.Gln1923fs) rs2154169021
NM_001164508.2(NEB):c.612+1G>A rs1202331107
NM_001164508.2(NEB):c.6184-2A>G rs1575300582
NM_001164508.2(NEB):c.6385C>T (p.Gln2129Ter) rs80344795
NM_001164508.2(NEB):c.739del (p.Ala247fs) rs2150350376
NM_001164508.2(NEB):c.7523_7526del (p.Ile2508fs) rs878854368
NM_001164508.2(NEB):c.7966A>T (p.Lys2656Ter) rs745420110
NM_001164508.2(NEB):c.8031_8041del (p.Lys2677fs) rs398124172
NM_001164508.2(NEB):c.8265+1G>A rs1131691547
NM_001164508.2(NEB):c.9465del (p.Ile3156fs) rs1553939600
NM_001164508.2(NEB):c.9505G>T (p.Glu3169Ter) rs370265998

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