ClinVar Miner

List of variants reported as uncertain significance for Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 by Labcorp Genetics (formerly Invitae), Labcorp

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ClinVar version:
Total variants: 142
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HGVS dbSNP gnomAD frequency
NM_000433.4(NCF2):c.244T>A (p.Tyr82Asn) rs201003183 0.00014
NM_000433.4(NCF2):c.1543G>A (p.Ala515Thr) rs369006606 0.00008
NM_000433.4(NCF2):c.94G>A (p.Val32Ile) rs201869337 0.00008
NM_000433.4(NCF2):c.112C>T (p.Arg38Trp) rs200824291 0.00007
NM_000433.4(NCF2):c.692C>T (p.Pro231Leu) rs144451516 0.00006
NM_000433.4(NCF2):c.977C>T (p.Pro326Leu) rs369515038 0.00006
NM_000433.4(NCF2):c.21C>G (p.Ile7Met) rs995270345 0.00005
NM_000433.4(NCF2):c.1018G>A (p.Glu340Lys) rs755689355 0.00004
NM_000433.4(NCF2):c.194A>G (p.Asn65Ser) rs778546412 0.00004
NM_000433.4(NCF2):c.609G>A (p.Thr203=) rs147657171 0.00004
NM_000433.4(NCF2):c.1189C>T (p.Arg397Trp) rs145970396 0.00003
NM_000433.4(NCF2):c.1321G>A (p.Glu441Lys) rs759940920 0.00003
NM_000433.4(NCF2):c.1568G>A (p.Arg523Gln) rs139108402 0.00003
NM_000433.4(NCF2):c.269C>T (p.Ala90Val) rs1439247206 0.00003
NM_000433.4(NCF2):c.737G>A (p.Arg246His) rs768181039 0.00003
NM_000433.4(NCF2):c.821A>G (p.Asn274Ser) rs754118806 0.00003
NM_000433.4(NCF2):c.1082C>T (p.Thr361Met) rs890662812 0.00002
NM_000433.4(NCF2):c.1105G>A (p.Gly369Arg) rs137854513 0.00002
NM_000433.4(NCF2):c.1156C>T (p.Arg386Trp) rs746692621 0.00002
NM_000433.4(NCF2):c.1546A>G (p.Thr516Ala) rs1038329001 0.00002
NM_000433.4(NCF2):c.1554T>G (p.Asp518Glu) rs534490818 0.00002
NM_000433.4(NCF2):c.49G>A (p.Ala17Thr) rs758057222 0.00002
NM_000433.4(NCF2):c.1026G>A (p.Lys342=) rs1459123494 0.00001
NM_000433.4(NCF2):c.1055A>G (p.Tyr352Cys) rs748489095 0.00001
NM_000433.4(NCF2):c.1126C>T (p.Arg376Trp) rs777251055 0.00001
NM_000433.4(NCF2):c.1165C>A (p.His389Asn) rs201325416 0.00001
NM_000433.4(NCF2):c.1242G>T (p.Trp414Cys) rs377591562 0.00001
NM_000433.4(NCF2):c.1336G>T (p.Asp446Tyr) rs886045653 0.00001
NM_000433.4(NCF2):c.1364A>G (p.Gln455Arg) rs142633260 0.00001
NM_000433.4(NCF2):c.1427T>C (p.Leu476Pro) rs1671976478 0.00001
NM_000433.4(NCF2):c.1460T>C (p.Leu487Ser) rs896210830 0.00001
NM_000433.4(NCF2):c.1486G>A (p.Glu496Lys) rs1482490757 0.00001
NM_000433.4(NCF2):c.1514T>C (p.Ile505Thr) rs937597401 0.00001
NM_000433.4(NCF2):c.157A>G (p.Met53Val) rs993538958 0.00001
NM_000433.4(NCF2):c.230G>A (p.Arg77Gln) rs119103275 0.00001
NM_000433.4(NCF2):c.23G>T (p.Ser8Ile) rs368880633 0.00001
NM_000433.4(NCF2):c.290C>G (p.Ala97Gly) rs755222977 0.00001
NM_000433.4(NCF2):c.305G>A (p.Arg102Gln) rs137854515 0.00001
NM_000433.4(NCF2):c.366+3A>T rs373508925 0.00001
NM_000433.4(NCF2):c.373T>C (p.Tyr125His) rs773422870 0.00001
NM_000433.4(NCF2):c.406G>A (p.Glu136Lys) rs749319711 0.00001
NM_000433.4(NCF2):c.443C>T (p.Thr148Met) rs764142541 0.00001
NM_000433.4(NCF2):c.501+6C>T rs749848761 0.00001
NM_000433.4(NCF2):c.613G>A (p.Val205Met) rs761985515 0.00001
NM_000433.4(NCF2):c.898C>T (p.Arg300Trp) rs768029053 0.00001
NM_000433.4(NCF2):c.932G>A (p.Ser311Asn) rs1664550664 0.00001
NM_000433.4(NCF2):c.979G>A (p.Gly327Arg) rs138860204 0.00001
NC_000001.10:g.(?_179520308)_(183559464_?)dup
NC_000001.10:g.(?_183546714)_(183559464_?)dup
NM_000433.4(NCF2):c.101A>G (p.Asp34Gly)
NM_000433.4(NCF2):c.1052C>T (p.Pro351Leu) rs571460195
NM_000433.4(NCF2):c.1065G>C (p.Lys355Asn)
NM_000433.4(NCF2):c.1069C>T (p.His357Tyr) rs765400770
NM_000433.4(NCF2):c.1168A>G (p.Thr390Ala)
NM_000433.4(NCF2):c.1183C>A (p.Arg395=) rs13306575
NM_000433.4(NCF2):c.1183C>G (p.Arg395Gly) rs13306575
NM_000433.4(NCF2):c.1190G>A (p.Arg397Gln)
NM_000433.4(NCF2):c.1194C>A (p.Asp398Glu) rs2102882371
NM_000433.4(NCF2):c.1234G>A (p.Asp412Asn)
NM_000433.4(NCF2):c.1247A>G (p.Gln416Arg) rs886045655
NM_000433.4(NCF2):c.1268C>G (p.Thr423Ser) rs1672149399
NM_000433.4(NCF2):c.1273T>C (p.Trp425Arg) rs373876135
NM_000433.4(NCF2):c.1284C>G (p.Asn428Lys) rs745334269
NM_000433.4(NCF2):c.1291-3C>T rs1671983911
NM_000433.4(NCF2):c.129_130delinsCT (p.Gly44Cys)
NM_000433.4(NCF2):c.1340C>T (p.Ala447Val) rs747548282
NM_000433.4(NCF2):c.138G>A (p.Met46Ile) rs1673575856
NM_000433.4(NCF2):c.1417C>T (p.Pro473Ser) rs1671977097
NM_000433.4(NCF2):c.1437G>T (p.Gln479His)
NM_000433.4(NCF2):c.1441G>A (p.Gly481Arg) rs1191336717
NM_000433.4(NCF2):c.1441G>C (p.Gly481Arg) rs1191336717
NM_000433.4(NCF2):c.1462T>C (p.Ser488Pro) rs1671974257
NM_000433.4(NCF2):c.1469-1G>C
NM_000433.4(NCF2):c.1486G>C (p.Glu496Gln) rs1482490757
NM_000433.4(NCF2):c.1491G>A (p.Gly497=)
NM_000433.4(NCF2):c.1492_1496dup (p.Cys499fs) rs1671770625
NM_000433.4(NCF2):c.1501G>A (p.Gly501Arg)
NM_000433.4(NCF2):c.1508T>C (p.Val503Ala) rs1572142355
NM_000433.4(NCF2):c.1520C>G (p.Pro507Arg)
NM_000433.4(NCF2):c.1523A>G (p.Lys508Arg) rs897063287
NM_000433.4(NCF2):c.1523_1524del (p.Lys508fs)
NM_000433.4(NCF2):c.1540T>C (p.Cys514Arg) rs1467304073
NM_000433.4(NCF2):c.1544C>T (p.Ala515Val) rs1391418738
NM_000433.4(NCF2):c.1550C>T (p.Thr517Ile)
NM_000433.4(NCF2):c.1555T>G (p.Leu519Val) rs2102867422
NM_000433.4(NCF2):c.1567C>T (p.Arg523Trp) rs1484391507
NM_000433.4(NCF2):c.1569_1573del (p.Arg524fs) rs2102867375
NM_000433.4(NCF2):c.1576G>C (p.Val526Leu)
NM_000433.4(NCF2):c.1581G>C (p.Ter527Tyr) rs768748386
NM_000433.4(NCF2):c.172_174del (p.Lys58del)
NM_000433.4(NCF2):c.173A>G (p.Lys58Arg)
NM_000433.4(NCF2):c.175-5C>G rs2102934600
NM_000433.4(NCF2):c.175G>A (p.Ala59Thr) rs545984071
NM_000433.4(NCF2):c.199G>T (p.Asp67Tyr) rs2102934452
NM_000433.4(NCF2):c.200A>G (p.Asp67Gly) rs1673381111
NM_000433.4(NCF2):c.211G>T (p.Ala71Ser) rs2102934403
NM_000433.4(NCF2):c.259T>A (p.Tyr87Asn)
NM_000433.4(NCF2):c.259T>C (p.Tyr87His)
NM_000433.4(NCF2):c.280C>T (p.Leu94Phe) rs2102912563
NM_000433.4(NCF2):c.289G>C (p.Ala97Pro) rs1558101108
NM_000433.4(NCF2):c.298C>A (p.Gln100Lys) rs119103276
NM_000433.4(NCF2):c.311A>G (p.Asn104Ser) rs2102912424
NM_000433.4(NCF2):c.312C>A (p.Asn104Lys) rs2102912417
NM_000433.4(NCF2):c.319A>G (p.Ile107Val) rs1672856679
NM_000433.4(NCF2):c.338G>A (p.Gly113Glu)
NM_000433.4(NCF2):c.359C>T (p.Ala120Val) rs1553258487
NM_000433.4(NCF2):c.394G>C (p.Ala132Pro)
NM_000433.4(NCF2):c.395C>T (p.Ala132Val) rs1672715788
NM_000433.4(NCF2):c.413A>G (p.Lys138Arg) rs1672714323
NM_000433.4(NCF2):c.443C>A (p.Thr148Lys) rs764142541
NM_000433.4(NCF2):c.484G>A (p.Ala162Thr) rs752127520
NM_000433.4(NCF2):c.485C>T (p.Ala162Val)
NM_000433.4(NCF2):c.488T>C (p.Met163Thr)
NM_000433.4(NCF2):c.4T>G (p.Ser2Ala)
NM_000433.4(NCF2):c.501+4A>G
NM_000433.4(NCF2):c.536T>C (p.Val179Ala) rs2102903236
NM_000433.4(NCF2):c.551G>A (p.Arg184Gln) rs137854518
NM_000433.4(NCF2):c.566A>G (p.Gln189Arg)
NM_000433.4(NCF2):c.596T>A (p.Leu199Gln)
NM_000433.4(NCF2):c.608C>T (p.Thr203Met)
NM_000433.4(NCF2):c.610-3T>C rs1464536922
NM_000433.4(NCF2):c.637A>G (p.Ser213Gly) rs2102898377
NM_000433.4(NCF2):c.64T>C (p.Trp22Arg) rs1673581250
NM_000433.4(NCF2):c.669+6G>C rs756905770
NM_000433.4(NCF2):c.670-4A>G rs777409864
NM_000433.4(NCF2):c.68A>T (p.Lys23Met)
NM_000433.4(NCF2):c.713+4A>G rs2102895069
NM_000433.4(NCF2):c.714-5T>G rs1672354679
NM_000433.4(NCF2):c.715G>A (p.Ala239Thr)
NM_000433.4(NCF2):c.739G>T (p.Val247Leu) rs1672351576
NM_000433.4(NCF2):c.743T>G (p.Leu248Arg) rs993917599
NM_000433.4(NCF2):c.811AAG[1] (p.Lys272del) rs778751639
NM_000433.4(NCF2):c.812A>G (p.Lys271Arg) rs1558094825
NM_000433.4(NCF2):c.818_832del (p.Gly273_Trp277del) rs1672345384
NM_000433.4(NCF2):c.859G>C (p.Gly287Arg) rs1178747743
NM_000433.4(NCF2):c.869C>T (p.Pro290Leu) rs1672329290
NM_000433.4(NCF2):c.872G>C (p.Cys291Ser) rs2102889993
NM_000433.4(NCF2):c.930A>T (p.Glu310Asp)
NM_000433.4(NCF2):c.934T>C (p.Ser312Pro) rs1572153511
NM_000433.4(NCF2):c.958C>G (p.Pro320Ala)
NM_000433.4(NCF2):c.964A>G (p.Ser322Gly)
NM_000433.4(NCF2):c.999A>G (p.Pro333=)

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