ClinVar Miner

List of variants in gene FANCC reported as likely benign for Fanconi anemia complementation group C

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_000136.3(FANCC):c.416G>A (p.Gly139Glu) rs1800362 0.01494
NM_000136.3(FANCC):c.-155A>C rs549658720 0.00998
NM_000136.3(FANCC):c.178G>A (p.Val60Ile) rs138629441 0.00091
NM_000136.3(FANCC):c.457-18A>G rs377206543 0.00036
NM_000136.3(FANCC):c.-78-18T>G rs560839822 0.00032
NM_000136.3(FANCC):c.250+16G>A rs371993188 0.00011
NM_000136.3(FANCC):c.251-20T>C rs370867462 0.00009
NM_000136.3(FANCC):c.438T>C (p.Tyr146=) rs765990832 0.00003
NM_000136.3(FANCC):c.165+17A>G rs1046183823 0.00002
NM_000136.3(FANCC):c.166-9C>G rs372507085 0.00001
NM_000136.3(FANCC):c.216A>G (p.Ala72=) rs1057523069 0.00001
NM_000136.3(FANCC):c.336C>T (p.Ser112=) rs1057521125

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