ClinVar Miner

List of variants studied for Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 by Illumina Laboratory Services, Illumina

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Total variants: 43
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HGVS dbSNP gnomAD frequency
NM_000433.4(NCF2):c.*398G>T rs796860 0.89972
NM_000433.4(NCF2):c.542A>G (p.Lys181Arg) rs2274064 0.45154
NM_000433.3(NCF2):c.-240T>G rs2274065 0.19754
NM_000433.4(NCF2):c.606G>A (p.Ala202=) rs17849501 0.03621
NM_000433.4(NCF2):c.1167C>A (p.His389Gln) rs17849502 0.03605
NM_000433.4(NCF2):c.890T>C (p.Val297Ala) rs35937854 0.01284
NM_000433.4(NCF2):c.1001-10T>G rs36113295 0.01255
NM_000433.4(NCF2):c.-129T>C rs34501573 0.01213
NM_000433.4(NCF2):c.174+8G>C rs34009795 0.00565
NM_000433.4(NCF2):c.1256A>T (p.Asn419Ile) rs35012521 0.00520
NM_000433.4(NCF2):c.1360C>T (p.Pro454Ser) rs55761650 0.00401
NM_000433.4(NCF2):c.563G>A (p.Arg188Lys) rs115365142 0.00260
NM_000433.4(NCF2):c.1081A>T (p.Thr361Ser) rs147744729 0.00169
NM_000433.4(NCF2):c.1552G>C (p.Asp518His) rs143901397 0.00151
NM_000433.4(NCF2):c.113G>A (p.Arg38Gln) rs147415774 0.00145
NM_000433.4(NCF2):c.1184G>A (p.Arg395Gln) rs145229115 0.00131
NM_000433.4(NCF2):c.836C>T (p.Thr279Met) rs13306581 0.00088
NM_000433.4(NCF2):c.1179-4C>G rs55795842 0.00066
NM_000433.4(NCF2):c.1157G>A (p.Arg386Gln) rs147908264 0.00045
NM_000433.4(NCF2):c.298C>G (p.Gln100Glu) rs119103276 0.00019
NM_000433.4(NCF2):c.*97A>C rs367946786 0.00015
NM_000433.4(NCF2):c.197G>A (p.Arg66Gln) rs142803799 0.00014
NM_000433.3(NCF2):c.-264C>T rs150182900 0.00009
NM_000433.4(NCF2):c.636C>T (p.Asp212=) rs774027102 0.00004
NM_000433.4(NCF2):c.*262C>T rs201050705 0.00003
NM_000433.4(NCF2):c.837G>A (p.Thr279=) rs942486247 0.00003
NM_000433.4(NCF2):c.196C>A (p.Arg66=) rs750782115 0.00002
NM_000433.4(NCF2):c.-98T>C rs755614780 0.00001
NM_000433.4(NCF2):c.1055A>G (p.Tyr352Cys) rs748489095 0.00001
NM_000433.4(NCF2):c.1336G>T (p.Asp446Tyr) rs886045653 0.00001
NM_000433.4(NCF2):c.443C>T (p.Thr148Met) rs764142541 0.00001
NM_000433.4(NCF2):c.996A>G (p.Ser332=) rs1192520130 0.00001
NM_000433.4(NCF2):c.1071C>T (p.His357=) rs1672170931
NM_000433.4(NCF2):c.1084G>A (p.Val362Ile) rs886045656
NM_000433.4(NCF2):c.1183C>T (p.Arg395Trp) rs13306575
NM_000433.4(NCF2):c.1247A>G (p.Gln416Arg) rs886045655
NM_000433.4(NCF2):c.1291-15C>G rs886045654
NM_000433.4(NCF2):c.1375G>C (p.Gly459Arg) rs1671979597
NM_000433.4(NCF2):c.1385T>G (p.Val462Gly) rs886045652
NM_000433.4(NCF2):c.1498A>G (p.Lys500Glu) rs886045651
NM_000433.4(NCF2):c.707T>C (p.Ile236Thr) rs764405660
NM_000433.4(NCF2):c.855+1G>A rs1352805193
NM_000433.4(NCF2):c.918G>A (p.Gln306=) rs535561432

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