ClinVar Miner

List of variants reported as uncertain significance for Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 by Labcorp Genetics (formerly Invitae), Labcorp

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ClinVar version:
Total variants: 147
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HGVS dbSNP gnomAD frequency
NM_000631.5(NCF4):c.647C>T (p.Thr216Met) rs146911421 0.00064
NM_000631.5(NCF4):c.458G>A (p.Arg153His) rs35160112 0.00035
NM_000631.5(NCF4):c.759-7C>A rs146292447 0.00025
NM_000631.5(NCF4):c.758+51G>A rs150640467 0.00021
NM_000631.5(NCF4):c.50C>T (p.Pro17Leu) rs147322774 0.00019
NM_000631.5(NCF4):c.359C>T (p.Pro120Leu) rs760441596 0.00016
NM_000631.5(NCF4):c.758+32G>A rs148129899 0.00016
NM_000631.5(NCF4):c.270A>T (p.Pro90=) rs370754874 0.00014
NM_000631.5(NCF4):c.179G>A (p.Arg60His) rs369847561 0.00008
NM_000631.5(NCF4):c.451C>T (p.Arg151Cys) rs150976323 0.00007
NM_000631.5(NCF4):c.74A>G (p.Asn25Ser) rs573525247 0.00007
NM_000631.5(NCF4):c.759-48C>T rs200504193 0.00007
NM_000631.5(NCF4):c.774G>A (p.Glu258=) rs1168483867 0.00007
NM_000631.5(NCF4):c.28G>A (p.Glu10Lys) rs756372095 0.00006
NM_000631.5(NCF4):c.759-1G>C rs200347935 0.00006
NM_000631.5(NCF4):c.145G>A (p.Gly49Arg) rs148715332 0.00005
NM_000631.5(NCF4):c.23G>A (p.Arg8Gln) rs762576326 0.00005
NM_000631.5(NCF4):c.638G>A (p.Arg213Gln) rs376569226 0.00005
NM_000631.5(NCF4):c.388C>T (p.Arg130Trp) rs868444265 0.00004
NM_000631.5(NCF4):c.526G>C (p.Glu176Gln) rs748770662 0.00004
NM_000631.5(NCF4):c.670G>A (p.Val224Met) rs200068754 0.00004
NM_000631.5(NCF4):c.798A>G (p.Leu266=) rs752651381 0.00004
NM_000631.5(NCF4):c.178C>T (p.Arg60Cys) rs183179978 0.00003
NM_000631.5(NCF4):c.33-3C>T rs759545797 0.00003
NM_000631.5(NCF4):c.344G>A (p.Ser115Asn) rs567656365 0.00003
NM_000631.5(NCF4):c.170G>A (p.Arg57His) rs746353194 0.00002
NM_000631.5(NCF4):c.304G>A (p.Ala102Thr) rs763938344 0.00002
NM_000631.5(NCF4):c.457C>T (p.Arg153Cys) rs572795915 0.00002
NM_000631.5(NCF4):c.605G>A (p.Arg202Gln) rs35355915 0.00002
NM_000631.5(NCF4):c.676A>C (p.Ile226Leu) rs368429862 0.00002
NM_000631.5(NCF4):c.759-22C>A rs1307425631 0.00002
NM_000631.5(NCF4):c.759-88T>C rs774730268 0.00002
NM_000631.5(NCF4):c.768G>A (p.Ala256=) rs766525712 0.00002
NM_000631.5(NCF4):c.215G>A (p.Arg72His) rs1383395509 0.00001
NM_000631.5(NCF4):c.220G>A (p.Gly74Arg) rs766377093 0.00001
NM_000631.5(NCF4):c.229A>G (p.Ser77Gly) rs777426455 0.00001
NM_000631.5(NCF4):c.22C>T (p.Arg8Trp) rs1488661755 0.00001
NM_000631.5(NCF4):c.260C>T (p.Pro87Leu) rs1361079117 0.00001
NM_000631.5(NCF4):c.283G>A (p.Val95Met) rs112273712 0.00001
NM_000631.5(NCF4):c.313C>T (p.Arg105Trp) rs756948322 0.00001
NM_000631.5(NCF4):c.337A>G (p.Met113Val) rs1250482128 0.00001
NM_000631.5(NCF4):c.342+4C>G rs777266078 0.00001
NM_000631.5(NCF4):c.361G>A (p.Val121Ile) rs759148798 0.00001
NM_000631.5(NCF4):c.397T>C (p.Phe133Leu) rs1243354458 0.00001
NM_000631.5(NCF4):c.407C>T (p.Ser136Leu) rs749322339 0.00001
NM_000631.5(NCF4):c.409C>T (p.Pro137Ser) rs1160758215 0.00001
NM_000631.5(NCF4):c.442C>T (p.Arg148Cys) rs770577417 0.00001
NM_000631.5(NCF4):c.443G>A (p.Arg148His) rs376709783 0.00001
NM_000631.5(NCF4):c.446G>A (p.Arg149Gln) rs371098446 0.00001
NM_000631.5(NCF4):c.463C>G (p.Arg155Gly) rs758154907 0.00001
NM_000631.5(NCF4):c.464G>A (p.Arg155Gln) rs1177795580 0.00001
NM_000631.5(NCF4):c.499G>A (p.Val167Ile) rs745490664 0.00001
NM_000631.5(NCF4):c.505C>T (p.Arg169Cys) rs1422597452 0.00001
NM_000631.5(NCF4):c.518C>T (p.Pro173Leu) rs1315752767 0.00001
NM_000631.5(NCF4):c.544A>C (p.Thr182Pro) rs1168414742 0.00001
NM_000631.5(NCF4):c.553A>G (p.Ser185Gly) rs766040731 0.00001
NM_000631.5(NCF4):c.566T>C (p.Leu189Pro) rs1244601933 0.00001
NM_000631.5(NCF4):c.58G>A (p.Val20Ile) rs575470394 0.00001
NM_000631.5(NCF4):c.617A>G (p.Asp206Gly) rs774706034 0.00001
NM_000631.5(NCF4):c.628-3C>T rs920454179 0.00001
NM_000631.5(NCF4):c.655T>C (p.Phe219Leu) rs761212596 0.00001
NM_000631.5(NCF4):c.659C>T (p.Pro220Leu) rs767125572 0.00001
NM_000631.5(NCF4):c.703G>A (p.Asp235Asn) rs867342643 0.00001
NM_000631.5(NCF4):c.722G>A (p.Arg241His) rs575016108 0.00001
NM_000631.5(NCF4):c.743C>T (p.Thr248Ile) rs548576102 0.00001
NM_000631.5(NCF4):c.758+110G>A rs747913896 0.00001
NM_000631.5(NCF4):c.758+23G>A rs1354303279 0.00001
NM_000631.5(NCF4):c.758+24C>T rs749287293 0.00001
NM_000631.5(NCF4):c.758+62C>T rs944647165 0.00001
NM_000631.5(NCF4):c.759-121C>T rs772986521 0.00001
NM_000631.5(NCF4):c.759-58C>T rs750610795 0.00001
NM_000631.5(NCF4):c.759-96G>A rs759148716 0.00001
NM_000631.5(NCF4):c.759-97C>T rs1940182719 0.00001
NM_000631.5(NCF4):c.780T>G (p.Asp260Glu) rs759649020 0.00001
NM_000631.5(NCF4):c.85A>C (p.Ile29Leu) rs1939858000 0.00001
NM_000631.5(NCF4):c.88G>A (p.Glu30Lys) rs775229266 0.00001
NC_000022.10:g.(?_37257214)_(37414773_?)dup
NC_000022.11:g.(?_36864025)_(36870562_?)del
NM_000631.5(NCF4):c.101G>C (p.Gly34Ala) rs766859628
NM_000631.5(NCF4):c.101G>T (p.Gly34Val) rs766859628
NM_000631.5(NCF4):c.107C>T (p.Thr36Ile) rs1939860402
NM_000631.5(NCF4):c.111C>A (p.Ser37Arg) rs1939860899
NM_000631.5(NCF4):c.122T>A (p.Phe41Tyr) rs1601547189
NM_000631.5(NCF4):c.124G>C (p.Val42Leu) rs371578849
NM_000631.5(NCF4):c.164T>C (p.Ile55Thr) rs932330052
NM_000631.5(NCF4):c.170G>T (p.Arg57Leu) rs746353194
NM_000631.5(NCF4):c.217T>G (p.Phe73Val) rs1292900352
NM_000631.5(NCF4):c.220G>C (p.Gly74Arg) rs766377093
NM_000631.5(NCF4):c.247G>A (p.Ala83Thr) rs2145705264
NM_000631.5(NCF4):c.248C>A (p.Ala83Asp) rs1939892766
NM_000631.5(NCF4):c.256C>G (p.Leu86Val) rs1939893335
NM_000631.5(NCF4):c.26C>G (p.Ala9Gly) rs1028485815
NM_000631.5(NCF4):c.280T>C (p.Tyr94His) rs2145710159
NM_000631.5(NCF4):c.301A>G (p.Ile101Val) rs775504785
NM_000631.5(NCF4):c.307G>A (p.Glu103Lys) rs1440444385
NM_000631.5(NCF4):c.311T>C (p.Met104Thr) rs1298026448
NM_000631.5(NCF4):c.32+3G>A rs1168349983
NM_000631.5(NCF4):c.330C>A (p.Asn110Lys) rs373828331
NM_000631.5(NCF4):c.331_333dup (p.Ala111dup) rs2145710334
NM_000631.5(NCF4):c.41A>G (p.Glu14Gly) rs2517907766
NM_000631.5(NCF4):c.421G>C (p.Glu141Gln) rs748172203
NM_000631.5(NCF4):c.445C>T (p.Arg149Trp)
NM_000631.5(NCF4):c.446_454del (p.Arg149_Arg151del) rs2517920241
NM_000631.5(NCF4):c.470+5G>A rs1397537560
NM_000631.5(NCF4):c.485C>T (p.Pro162Leu) rs1940057945
NM_000631.5(NCF4):c.504C>A (p.Asp168Glu) rs1387007679
NM_000631.5(NCF4):c.506G>A (p.Arg169His) rs371308317
NM_000631.5(NCF4):c.508A>G (p.Met170Val) rs1384992952
NM_000631.5(NCF4):c.522A>C (p.Arg174Ser) rs2517922150
NM_000631.5(NCF4):c.539A>C (p.Asp180Ala) rs1601553436
NM_000631.5(NCF4):c.544A>G (p.Thr182Ala)
NM_000631.5(NCF4):c.545C>T (p.Thr182Ile)
NM_000631.5(NCF4):c.562G>C (p.Glu188Gln) rs1569114734
NM_000631.5(NCF4):c.578C>G (p.Ala193Gly) rs1431618176
NM_000631.5(NCF4):c.586G>A (p.Val196Met) rs753529855
NM_000631.5(NCF4):c.596T>C (p.Leu199Pro) rs1248017342
NM_000631.5(NCF4):c.604C>T (p.Arg202Trp) rs138411102
NM_000631.5(NCF4):c.621G>T (p.Trp207Cys) rs748453334
NM_000631.5(NCF4):c.627+22_627+33dup rs1372067743
NM_000631.5(NCF4):c.628-3C>G rs920454179
NM_000631.5(NCF4):c.641G>A (p.Gly214Glu) rs1250298096
NM_000631.5(NCF4):c.665C>T (p.Ser222Phe) rs754272966
NM_000631.5(NCF4):c.68C>T (p.Ser23Leu) rs1001835888
NM_000631.5(NCF4):c.705C>A (p.Asp235Glu) rs150656826
NM_000631.5(NCF4):c.739G>A (p.Asp247Asn) rs893324789
NM_000631.5(NCF4):c.758+117A>G rs1569116821
NM_000631.5(NCF4):c.758+12G>C rs756196818
NM_000631.5(NCF4):c.758+17G>C rs1940178457
NM_000631.5(NCF4):c.758+2T>G rs2145726846
NM_000631.5(NCF4):c.758+39T>A rs532148733
NM_000631.5(NCF4):c.758+39T>C rs532148733
NM_000631.5(NCF4):c.758+48T>C rs2517929110
NM_000631.5(NCF4):c.758+60C>T rs764531129
NM_000631.5(NCF4):c.758+69C>T rs1940180265
NM_000631.5(NCF4):c.758+84C>G rs2145727085
NM_000631.5(NCF4):c.758+87T>G rs750700271
NM_000631.5(NCF4):c.759-43T>C rs1940184487
NM_000631.5(NCF4):c.759-49C>T rs766613420
NM_000631.5(NCF4):c.759-58C>G rs750610795
NM_000631.5(NCF4):c.759-67C>T rs2517929450
NM_000631.5(NCF4):c.759-6C>A rs202038330
NM_000631.5(NCF4):c.759-6C>G rs202038330
NM_000631.5(NCF4):c.759-7C>G rs146292447
NM_000631.5(NCF4):c.759-84C>T rs1940183132
NM_000631.5(NCF4):c.759-98A>T rs2145727217
NM_000631.5(NCF4):c.767C>T (p.Ala256Val) rs761060692
NM_000631.5(NCF4):c.94A>G (p.Lys32Glu) rs2145702819

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