ClinVar Miner

List of variants in gene combination AOPEP, FANCC reported by Genetic Services Laboratory, University of Chicago

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Total variants: 33
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HGVS dbSNP gnomAD frequency
NM_000136.3(FANCC):c.1330-3C>T rs4647542 0.00811
NM_000136.3(FANCC):c.1394A>G (p.Gln465Arg) rs1800368 0.00361
NM_000136.3(FANCC):c.584A>T (p.Asp195Val) rs1800365 0.00275
NM_000136.3(FANCC):c.1156T>C (p.Ser386Pro) rs41281202 0.00236
NM_000136.3(FANCC):c.*450G>A rs149227790 0.00224
NM_000136.3(FANCC):c.840G>A (p.Ser280=) rs34671520 0.00154
NM_000136.3(FANCC):c.632C>G (p.Pro211Arg) rs140781259 0.00126
NM_000136.3(FANCC):c.816C>T (p.Ile272=) rs55719336 0.00074
NM_000136.3(FANCC):c.934A>G (p.Ile312Val) rs1800366 0.00051
NM_000136.3(FANCC):c.705C>T (p.Pro235=) rs141828876 0.00046
NM_000136.3(FANCC):c.*5C>T rs117175949 0.00033
NM_000136.3(FANCC):c.843+87T>C rs183585118 0.00021
NM_000136.3(FANCC):c.1407G>A (p.Thr469=) rs79722116 0.00020
NM_000136.3(FANCC):c.817G>A (p.Glu273Lys) rs143181565 0.00011
NM_000136.3(FANCC):c.531C>T (p.Pro177=) rs150070473 0.00007
NM_000136.3(FANCC):c.974C>T (p.Ala325Val) rs367618818 0.00006
NM_000136.3(FANCC):c.1316G>A (p.Arg439Lys) rs730881723 0.00005
NM_000136.3(FANCC):c.*7C>T rs372511678 0.00004
NM_000136.3(FANCC):c.1000C>T (p.Arg334Trp) rs140348260 0.00004
NM_000136.3(FANCC):c.1544C>G (p.Thr515Ser) rs201379302 0.00004
NM_000136.3(FANCC):c.1561G>A (p.Glu521Lys) rs752855423 0.00004
NM_000136.3(FANCC):c.748C>A (p.Leu250Ile) rs778966663 0.00004
NM_000136.3(FANCC):c.1162G>T (p.Gly388Ter) rs371897078 0.00003
NM_000136.3(FANCC):c.1643G>A (p.Arg548Gln) rs730881729 0.00003
NM_000136.3(FANCC):c.1298G>A (p.Arg433His) rs768676102 0.00001
NM_000136.3(FANCC):c.526G>C (p.Ala176Pro) rs767389988 0.00001
NM_000136.3(FANCC):c.668T>C (p.Val223Ala) rs751410815 0.00001
NM_000136.3(FANCC):c.792T>G (p.Ser264Arg) rs730881717 0.00001
NM_000136.3(FANCC):c.851C>T (p.Ala284Val) rs201281511 0.00001
NM_000136.3(FANCC):c.1633_1635del (p.Lys545del) rs2134382487
NM_000136.3(FANCC):c.1655A>G (p.Lys552Arg) rs1197938479
NM_000136.3(FANCC):c.691A>G (p.Lys231Glu) rs1314066337
NM_000136.3(FANCC):c.901G>A (p.Ala301Thr) rs972738983

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