ClinVar Miner

List of variants in gene combination AOPEP, FANCC reported as likely pathogenic for Fanconi anemia

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Total variants: 26
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HGVS dbSNP gnomAD frequency
NM_000136.3(FANCC):c.843+1G>A rs587779909 0.00002
NM_000136.3(FANCC):c.1329+1G>T rs1554829441 0.00001
NM_000136.3(FANCC):c.522-1G>C rs1014112491 0.00001
NM_000136.3(FANCC):c.844-1G>C rs774209201 0.00001
NM_000136.3(FANCC):c.996+1G>T rs370510954 0.00001
NM_000136.3(FANCC):c.1072+1G>A rs1554830789
NM_000136.3(FANCC):c.1072+2T>A
NM_000136.3(FANCC):c.1155-1G>C rs1554829575
NM_000136.3(FANCC):c.1155-2A>G rs1343170313
NM_000136.3(FANCC):c.1330-2A>C rs2134456820
NM_000136.3(FANCC):c.1330-2A>G
NM_000136.3(FANCC):c.686+1G>C rs1057517125
NM_000136.3(FANCC):c.686+1G>T rs1057517125
NM_000136.3(FANCC):c.687-1G>A rs1588134748
NM_000136.3(FANCC):c.808A>T (p.Arg270Ter) rs776054094
NM_000136.3(FANCC):c.843+1G>C rs587779909
NM_000136.3(FANCC):c.843+1G>T rs587779909
NM_000136.3(FANCC):c.844-1G>A
NM_000136.3(FANCC):c.844-1G>T rs774209201
NM_000136.3(FANCC):c.896+1G>C rs1554833186
NM_000136.3(FANCC):c.896+2T>A rs863224441
NM_000136.3(FANCC):c.896+2T>G rs863224441
NM_000136.3(FANCC):c.996+1G>A rs370510954
NM_000136.3(FANCC):c.996+1G>C rs370510954
NM_000136.3(FANCC):c.996+1_996+2insGA rs1825770738
NM_000136.3(FANCC):c.996+2T>C

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