ClinVar Miner

List of variants in gene combination AOPEP, FANCC reported as pathogenic for Fanconi anemia, complementation group C

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Total variants: 19
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NM_000136.3(FANCC):c.1208G>A (p.Trp403Ter)
NM_000136.3(FANCC):c.1329+1G>T rs1554829441
NM_000136.3(FANCC):c.1333C>T (p.Gln445Ter) rs1057516298
NM_000136.3(FANCC):c.1393C>T (p.Gln465Ter) rs1035139114
NM_000136.3(FANCC):c.1417C>T (p.Gln473Ter) rs1410356625
NM_000136.3(FANCC):c.1487T>G (p.Leu496Arg) rs121917785
NM_000136.3(FANCC):c.1494T>G (p.Ala498=)
NM_000136.3(FANCC):c.1550dup (p.Ile518fs)
NM_000136.3(FANCC):c.1555dup (p.Thr519fs) rs794726667
NM_000136.3(FANCC):c.1598_1599insAG (p.Trp533Ter)
NM_000136.3(FANCC):c.1642C>T (p.Arg548Ter) rs104886457
NM_000136.3(FANCC):c.1661T>C (p.Leu554Pro) rs104886458
NM_000136.3(FANCC):c.1663C>T (p.Arg555Ter) rs370974124
NM_000136.3(FANCC):c.843+1G>A rs587779909
NM_000136.3(FANCC):c.844-1G>C rs774209201
NM_000136.3(FANCC):c.897-1G>A rs1588101086
NM_000136.3(FANCC):c.996+1G>A rs370510954
NM_000136.3(FANCC):c.996G>A (p.Gln332=)

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