List of variants in gene NEB reported as uncertain significance by Counsyl

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: 66

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HGVS	dbSNP	gnomAD frequency
NM_001164508.2(NEB):c.11333T>C (p.Ile3778Thr)	rs200270156	0.00009
NM_001164508.2(NEB):c.1152+5G>A	rs111404077	0.00009
NM_001164508.2(NEB):c.194C>T (p.Pro65Leu)	rs375909006	0.00009
NM_001164508.2(NEB):c.5939T>C (p.Leu1980Ser)	rs375412223	0.00006
NM_001164508.2(NEB):c.20131C>T (p.Arg6711Trp)	rs533233215	0.00004
NM_001164508.2(NEB):c.2459T>G (p.Phe820Cys)	rs200664592	0.00003
NM_001164508.2(NEB):c.772G>A (p.Asp258Asn)	rs267598926	0.00003
NM_001164508.2(NEB):c.4664G>A (p.Arg1555Lys)	rs183333679	0.00002
NM_001164508.2(NEB):c.7761G>C (p.Arg2587Ser)	rs869312958	0.00002
NM_001164508.2(NEB):c.11954A>G (p.Tyr3985Cys)	rs745504838	0.00001
NM_001164508.2(NEB):c.1470+2dup	rs1477702016	0.00001
NM_001164508.2(NEB):c.1649_1651del (p.Lys550_Val551delinsIle)	rs746163908	0.00001
NM_001164508.2(NEB):c.19101+5G>A	rs374929094	0.00001
NM_001164508.2(NEB):c.2211+5G>T	rs797045736	0.00001
NM_001164508.2(NEB):c.3255+2dup	rs1276026682	0.00001
NM_001164508.2(NEB):c.5763+5G>A	rs776167256	0.00001
NM_001164508.2(NEB):c.107CAA[1] (p.Thr37del)	rs1553698850
NM_001164508.2(NEB):c.10817_10819del (p.Leu3606del)	rs1553911586
NM_001164508.2(NEB):c.10833CAT[1] (p.Ile3613del)	rs773748212
NM_001164508.2(NEB):c.11215A>C (p.Lys3739Gln)	rs267598922
NM_001164508.2(NEB):c.11295_11297del (p.Lys3765_Tyr3766delinsAsn)	rs1553898232
NM_001164508.2(NEB):c.153_167del (p.52LAQPA[1])	rs757726895
NM_001164508.2(NEB):c.18510_18515del (p.Gly6171_Tyr6172del)	rs1553767010
NM_001164508.2(NEB):c.18694-6_18694-2del	rs1377029367
NM_001164508.2(NEB):c.18809_18811del (p.Arg6270del)	rs1553762776
NM_001164508.2(NEB):c.18953C>T (p.Pro6318Leu)	rs267598920
NM_001164508.2(NEB):c.20442_20447dup (p.Ser6815_Arg6816dup)	rs760783104
NM_001164508.2(NEB):c.20721TCA[1] (p.His6909del)	rs1553696713
NM_001164508.2(NEB):c.20763_20774del (p.Lys6921_Asp6925delinsAsn)	rs1553696371
NM_001164508.2(NEB):c.21010_21012del (p.Glu7004del)	rs770208836
NM_001164508.2(NEB):c.2106+3A>C	rs1553589058
NM_001164508.2(NEB):c.21238_21243del (p.Lys7080_Ser7081del)	rs1553683478
NM_001164508.2(NEB):c.2211+5G>A	rs797045736
NM_001164508.2(NEB):c.23AGG[1] (p.Glu9del)	rs1553711235
NM_001164508.2(NEB):c.2415+2dup	rs1553567814
NM_001164508.2(NEB):c.244A>G (p.Met82Val)	rs587780398
NM_001164508.2(NEB):c.2875_2877del (p.Cys959del)	rs766232587
NM_001164508.2(NEB):c.3218_3226dup (p.Ala1075_Ala1076insValArgAla)	rs1553539039
NM_001164508.2(NEB):c.3221_3229dup (p.Arg1074_Ala1076dup)	rs1553539015
NM_001164508.2(NEB):c.3352G>T (p.Ala1118Ser)	rs1225381477
NM_001164508.2(NEB):c.3545_3547del (p.Asn1182del)	rs1553534580
NM_001164508.2(NEB):c.3567+3_3567+6del	rs1553534336
NM_001164508.2(NEB):c.3676AAG[1] (p.Lys1227del)	rs1553532187
NM_001164508.2(NEB):c.3759_3773del (p.Lys1254_Asp1258del)	rs1553531184
NM_001164508.2(NEB):c.3795AGA[1] (p.Glu1266del)	rs1553522046
NM_001164508.2(NEB):c.3874A>G (p.Ser1292Gly)	rs1553521537
NM_001164508.2(NEB):c.4337G>T (p.Gly1446Val)	rs541803470
NM_001164508.2(NEB):c.4471G>T (p.Val1491Leu)	rs7426114
NM_001164508.2(NEB):c.47AAG[1] (p.Glu17del)	rs760256873
NM_001164508.2(NEB):c.5140AAG[1] (p.Lys1715del)	rs1553492424
NM_001164508.2(NEB):c.5170_5172del (p.Lys1724del)	rs1553492107
NM_001164508.2(NEB):c.54_56dup (p.Val19dup)	rs1553702754
NM_001164508.2(NEB):c.605_607del (p.Phe202_Ser203delinsCys)	rs1553687045
NM_001164508.2(NEB):c.6195_6200del (p.2063KY[1])	rs767681176
NM_001164508.2(NEB):c.6598A>G (p.Ser2200Gly)	rs1553462412
NM_001164508.2(NEB):c.6799_6804del (p.Tyr2267_Ser2268del)	rs1209177139
NM_001164508.2(NEB):c.6956_6967del (p.His2319_Phe2322del)	rs1553449735
NM_001164508.2(NEB):c.7120_7122dup (p.Glu2374dup)	rs1553449134
NM_001164508.2(NEB):c.7135_7140del (p.Val2379_Asp2380del)	rs1326831435
NM_001164508.2(NEB):c.7549_7551del (p.Met2517del)	rs1553985641
NM_001164508.2(NEB):c.834AGA[1] (p.Glu279del)	rs1553642771
NM_001164508.2(NEB):c.8497AAG[1] (p.Lys2834del)	rs764523437
NM_001164508.2(NEB):c.8880_8882del (p.Met2961del)	rs1553964000
NM_001164508.2(NEB):c.9053_9067del (p.Asp3018_Ile3022del)	rs1165631470
NM_001164508.2(NEB):c.9819_9820insAGG (p.Asp3273_Val3274insArg)	rs1553934027
NM_001271208.1(NEB):c.7651_7656del6	rs1553983947

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