ClinVar Miner

List of variants reported as benign for Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2

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Total variants: 27
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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_000433.4(NCF2):c.925-21G>A rs2296164 0.45071
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.836C>T (p.Thr279Met) rs13306581 0.00088
NM_000433.4(NCF2):c.367-18C>T rs372513540 0.00078
NM_000433.4(NCF2):c.175-13C>T rs372630984 0.00071
NM_000433.4(NCF2):c.1179-4C>G rs55795842 0.00066
NM_000433.4(NCF2):c.367-16G>A rs55832218 0.00064
NM_000433.4(NCF2):c.1157G>A (p.Arg386Gln) rs147908264 0.00045
NM_000433.4(NCF2):c.367-17G>A rs189540801 0.00032
NM_000433.4(NCF2):c.298C>G (p.Gln100Glu) rs119103276 0.00019
NM_000433.4(NCF2):c.1342A>G (p.Asn448Asp) rs141569987 0.00009
NM_000433.4(NCF2):c.1183C>T (p.Arg395Trp) rs13306575
NM_000433.4(NCF2):c.645T>C (p.Ser215=) rs745372047
NM_000433.4(NCF2):c.703G>A (p.Glu235Lys)
NM_000433.4(NCF2):c.918G>A (p.Gln306=) rs535561432

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