ClinVar Miner

List of variants in gene combination AOPEP, FANCC reported by CeGaT Center for Human Genetics Tuebingen

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Total variants: 20
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HGVS dbSNP gnomAD frequency
NM_000136.3(FANCC):c.*96A>G rs55687573 0.00893
NM_000136.3(FANCC):c.1329+175C>T rs112446681 0.00401
NM_000136.3(FANCC):c.584A>T (p.Asp195Val) rs1800365 0.00275
NM_000136.3(FANCC):c.840G>A (p.Ser280=) rs34671520 0.00154
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.554G>A (p.Arg185Gln) rs370346767 0.00009
NM_000136.3(FANCC):c.531C>T (p.Pro177=) rs150070473 0.00007
NM_000136.3(FANCC):c.609C>T (p.Leu203=) rs567226063 0.00006
NM_000136.3(FANCC):c.767A>G (p.His256Arg) rs730881716 0.00006
NM_000136.3(FANCC):c.1494T>C (p.Ala498=) rs76895298 0.00005
NM_000136.3(FANCC):c.1560C>T (p.His520=) rs150020474 0.00005
NM_000136.3(FANCC):c.1611C>A (p.Gly537=) rs1027358273 0.00003
NM_000136.3(FANCC):c.1414G>A (p.Gly472Arg) rs201063698 0.00002
NM_000136.3(FANCC):c.783A>T (p.Leu261=) rs1060504646 0.00002
NM_000136.3(FANCC):c.522-1G>C rs1014112491 0.00001
NM_000136.3(FANCC):c.839C>T (p.Ser280Leu) rs749230615 0.00001
NM_000136.3(FANCC):c.996+1G>T rs370510954 0.00001
NM_000136.3(FANCC):c.1329+192C>T
NM_000136.3(FANCC):c.1329+213G>A

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