ClinVar Miner

List of variants reported as likely benign for Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3

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Total variants: 148
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HGVS dbSNP gnomAD frequency
NM_000631.5(NCF4):c.254C>A (p.Thr85Asn) rs112306225 0.00357
NM_000631.5(NCF4):c.747C>A (p.Ile249=) rs147089818 0.00056
NM_000631.5(NCF4):c.271+6C>T rs200052796 0.00036
NM_000631.5(NCF4):c.384C>T (p.Asp128=) rs144105468 0.00036
NM_000631.5(NCF4):c.271+17G>A rs371236295 0.00025
NM_000631.5(NCF4):c.27C>T (p.Ala9=) rs372612108 0.00023
NM_000631.5(NCF4):c.78T>C (p.Ile26=) rs139319252 0.00019
NM_000631.5(NCF4):c.528+11C>A rs375032114 0.00018
NM_000631.5(NCF4):c.456G>A (p.Pro152=) rs554368196 0.00013
NM_000631.5(NCF4):c.923G>A (p.Arg308Gln) rs141160114 0.00012
NM_000631.5(NCF4):c.390G>A (p.Arg130=) rs199642717 0.00011
NM_000631.5(NCF4):c.272-12G>T rs201398048 0.00009
NM_000631.5(NCF4):c.129C>T (p.Ile43=) rs753635134 0.00007
NM_000631.5(NCF4):c.33-6G>A rs200865261 0.00007
NM_000631.5(NCF4):c.90G>A (p.Glu30=) rs200822582 0.00007
NM_000631.5(NCF4):c.32+10G>A rs529996027 0.00006
NM_000631.5(NCF4):c.528+10G>A rs761240184 0.00006
NM_000631.5(NCF4):c.758+38C>T rs141914454 0.00006
NM_000631.5(NCF4):c.796C>T (p.Leu266=) rs374646787 0.00006
NM_000631.5(NCF4):c.117+14C>G rs200215030 0.00005
NM_000631.5(NCF4):c.306C>T (p.Ala102=) rs34072404 0.00005
NM_000631.5(NCF4):c.343-13C>G rs370200398 0.00005
NM_000631.5(NCF4):c.471-9T>C rs765278988 0.00005
NM_000631.5(NCF4):c.529-13C>T rs749683166 0.00005
NM_000631.5(NCF4):c.648G>A (p.Thr216=) rs190625962 0.00005
NM_000631.5(NCF4):c.669C>T (p.Phe223=) rs755594287 0.00005
NM_000631.5(NCF4):c.33-7C>T rs762488939 0.00004
NM_000631.5(NCF4):c.528+7C>T rs1486869326 0.00004
NM_000631.5(NCF4):c.330C>T (p.Asn110=) rs373828331 0.00003
NM_000631.5(NCF4):c.343-8C>T rs759435967 0.00003
NM_000631.5(NCF4):c.459C>T (p.Arg153=) rs779032981 0.00003
NM_000631.5(NCF4):c.529-12G>A rs768718576 0.00003
NM_000631.5(NCF4):c.766G>A (p.Ala256Thr) rs773520052 0.00003
NM_000631.5(NCF4):c.219C>T (p.Phe73=) rs373041130 0.00002
NM_000631.5(NCF4):c.282C>T (p.Tyr94=) rs771129807 0.00002
NM_000631.5(NCF4):c.303C>T (p.Ile101=) rs746977479 0.00002
NM_000631.5(NCF4):c.342+16G>A rs769933291 0.00002
NM_000631.5(NCF4):c.477C>T (p.Ser159=) rs752773971 0.00002
NM_000631.5(NCF4):c.702C>T (p.Asp234=) rs745954906 0.00002
NM_000631.5(NCF4):c.759-83T>C rs1324623407 0.00002
NM_000631.5(NCF4):c.87C>T (p.Ile29=) rs149998137 0.00002
NM_000631.5(NCF4):c.118-11G>A rs751736931 0.00001
NM_000631.5(NCF4):c.118-16C>T rs1248010203 0.00001
NM_000631.5(NCF4):c.118-8C>T rs761899056 0.00001
NM_000631.5(NCF4):c.126C>A (p.Val42=) rs1424343568 0.00001
NM_000631.5(NCF4):c.180C>T (p.Arg60=) rs762003847 0.00001
NM_000631.5(NCF4):c.267C>A (p.Leu89=) rs748376366 0.00001
NM_000631.5(NCF4):c.271+16C>T rs759457602 0.00001
NM_000631.5(NCF4):c.272-19G>A rs1939952462 0.00001
NM_000631.5(NCF4):c.32+13G>T rs1939767771 0.00001
NM_000631.5(NCF4):c.32+20C>T rs1439015935 0.00001
NM_000631.5(NCF4):c.32+9C>A rs377217264 0.00001
NM_000631.5(NCF4):c.342+12C>T rs367636183 0.00001
NM_000631.5(NCF4):c.343-15G>C rs1427121004 0.00001
NM_000631.5(NCF4):c.348G>A (p.Leu116=) rs761526575 0.00001
NM_000631.5(NCF4):c.363C>T (p.Val121=) rs752127204 0.00001
NM_000631.5(NCF4):c.408G>A (p.Ser136=) rs755052012 0.00001
NM_000631.5(NCF4):c.498C>T (p.Ser166=) rs560584199 0.00001
NM_000631.5(NCF4):c.51G>A (p.Pro17=) rs139289225 0.00001
NM_000631.5(NCF4):c.528+9C>T rs773758945 0.00001
NM_000631.5(NCF4):c.549A>G (p.Gly183=) rs760573346 0.00001
NM_000631.5(NCF4):c.57T>C (p.Asp19=) rs2145702686 0.00001
NM_000631.5(NCF4):c.627+15G>C rs776635269 0.00001
NM_000631.5(NCF4):c.750C>T (p.Ser250=) rs757450151 0.00001
NM_000631.5(NCF4):c.758+118G>A rs1156468775 0.00001
NM_000631.5(NCF4):c.758+46C>T rs1940179345 0.00001
NM_000631.5(NCF4):c.758+64C>T rs373460310 0.00001
NM_000631.5(NCF4):c.758+85C>G rs1344589085 0.00001
NM_000631.5(NCF4):c.759-101T>C rs200848048 0.00001
NM_000631.5(NCF4):c.759-71T>C rs374914189 0.00001
NM_000631.5(NCF4):c.759-8C>A rs369565034 0.00001
NM_000631.5(NCF4):c.799T>C (p.Leu267=) rs139432640 0.00001
NM_000631.5(NCF4):c.106A>C (p.Thr36Pro) rs200818199
NM_000631.5(NCF4):c.117+10A>C
NM_000631.5(NCF4):c.117+18T>A rs2517908211
NM_000631.5(NCF4):c.117+19C>T rs760778895
NM_000631.5(NCF4):c.117+20C>T rs2145703054
NM_000631.5(NCF4):c.118-10T>C rs2145704811
NM_000631.5(NCF4):c.118-16C>A rs1248010203
NM_000631.5(NCF4):c.118-23_118-13del rs764650019
NM_000631.5(NCF4):c.118-6_118-4del rs774805003
NM_000631.5(NCF4):c.129C>A (p.Ile43=) rs753635134
NM_000631.5(NCF4):c.132G>A (p.Glu44=) rs754759226
NM_000631.5(NCF4):c.18G>A (p.Gln6=) rs2145696469
NM_000631.5(NCF4):c.201C>T (p.Ser67=) rs750743658
NM_000631.5(NCF4):c.204G>A (p.Lys68=) rs2145705120
NM_000631.5(NCF4):c.222G>A (p.Gly74=) rs377510654
NM_000631.5(NCF4):c.222G>C (p.Gly74=) rs377510654
NM_000631.5(NCF4):c.222G>T (p.Gly74=) rs377510654
NM_000631.5(NCF4):c.228C>T (p.Asp76=) rs188209920
NM_000631.5(NCF4):c.244C>T (p.Leu82=)
NM_000631.5(NCF4):c.249C>G (p.Ala83=)
NM_000631.5(NCF4):c.271+9C>T rs1245684521
NM_000631.5(NCF4):c.272-14_272-13del rs756236907
NM_000631.5(NCF4):c.272-17T>G
NM_000631.5(NCF4):c.272-19G>C rs1939952462
NM_000631.5(NCF4):c.272-7_272-6del rs2145710116
NM_000631.5(NCF4):c.272-8C>A rs1939952969
NM_000631.5(NCF4):c.279C>T (p.Val93=) rs1272266444
NM_000631.5(NCF4):c.27C>G (p.Ala9=)
NM_000631.5(NCF4):c.291G>A (p.Val97=)
NM_000631.5(NCF4):c.30G>A (p.Glu10=) rs1601543664
NM_000631.5(NCF4):c.32+9C>T
NM_000631.5(NCF4):c.33-6G>T rs200865261
NM_000631.5(NCF4):c.342+8T>G
NM_000631.5(NCF4):c.369G>A (p.Val123=) rs1450546523
NM_000631.5(NCF4):c.411C>T (p.Pro137=) rs1400167845
NM_000631.5(NCF4):c.429G>T (p.Val143=) rs771758194
NM_000631.5(NCF4):c.444C>A (p.Arg148=) rs1940029777
NM_000631.5(NCF4):c.456G>C (p.Pro152=)
NM_000631.5(NCF4):c.456G>T (p.Pro152=) rs554368196
NM_000631.5(NCF4):c.463C>A (p.Arg155=) rs758154907
NM_000631.5(NCF4):c.470+13C>T
NM_000631.5(NCF4):c.470+17T>G
NM_000631.5(NCF4):c.470+7G>T rs2145716668
NM_000631.5(NCF4):c.489G>A (p.Gln163=) rs1041770742
NM_000631.5(NCF4):c.51G>T (p.Pro17=) rs139289225
NM_000631.5(NCF4):c.528+15_528+16inv
NM_000631.5(NCF4):c.528+17C>T
NM_000631.5(NCF4):c.528+18G>A rs6000455
NM_000631.5(NCF4):c.529-15C>G
NM_000631.5(NCF4):c.529-18C>T rs2517923181
NM_000631.5(NCF4):c.543C>T (p.Phe181=) rs2517923230
NM_000631.5(NCF4):c.549A>C (p.Gly183=) rs760573346
NM_000631.5(NCF4):c.585T>C (p.Asp195=) rs1940079233
NM_000631.5(NCF4):c.627+17G>A
NM_000631.5(NCF4):c.627+9A>G rs1434570334
NM_000631.5(NCF4):c.648G>C (p.Thr216=) rs190625962
NM_000631.5(NCF4):c.666C>A (p.Ser222=) rs1601556243
NM_000631.5(NCF4):c.66C>T (p.Ile22=)
NM_000631.5(NCF4):c.672G>A (p.Val224=)
NM_000631.5(NCF4):c.69G>T (p.Ser23=) rs10854695
NM_000631.5(NCF4):c.758+106C>T rs2517929273
NM_000631.5(NCF4):c.758+16G>A rs377257592
NM_000631.5(NCF4):c.758+34C>T rs2517929078
NM_000631.5(NCF4):c.758+57_758+58inv
NM_000631.5(NCF4):c.758+67A>G rs1315415381
NM_000631.5(NCF4):c.758+70A>G rs1940180317
NM_000631.5(NCF4):c.758+79T>C
NM_000631.5(NCF4):c.759-20C>A rs2517929592
NM_000631.5(NCF4):c.759-20C>G rs2517929592
NM_000631.5(NCF4):c.759-25T>C rs1408073733
NM_000631.5(NCF4):c.759-38G>A rs2517929550
NM_000631.5(NCF4):c.759-65T>C rs1940183687
NM_000631.5(NCF4):c.759-80C>T
NM_000631.5(NCF4):c.760G>A (p.Asp254Asn)
NM_000631.5(NCF4):c.793C>T (p.Pro265Ser) rs2517929759
NM_000631.5(NCF4):c.87C>A (p.Ile29=) rs149998137

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