ClinVar Miner

List of variants reported as likely benign for Fanconi anemia complementation group C by Natera, Inc.

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 19
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HGVS dbSNP gnomAD frequency
NM_000136.3(FANCC):c.1394A>G (p.Gln465Arg) rs1800368 0.00361
NM_000136.3(FANCC):c.632C>G (p.Pro211Arg) rs140781259 0.00126
NM_000136.3(FANCC):c.705C>T (p.Pro235=) rs141828876 0.00046
NM_000136.3(FANCC):c.609C>T (p.Leu203=) rs567226063 0.00006
NM_000136.3(FANCC):c.1425A>G (p.Thr475=) rs199739450 0.00005
NM_000136.3(FANCC):c.906C>G (p.Leu302=) rs766079351 0.00003
NM_000136.3(FANCC):c.915C>T (p.Thr305=) rs138132690 0.00002
NM_000136.3(FANCC):c.993G>A (p.Lys331=) rs748582850 0.00002
NM_000136.3(FANCC):c.1281C>T (p.Ala427=) rs754604606 0.00001
NM_000136.3(FANCC):c.1593C>T (p.Tyr531=) rs758842354 0.00001
NM_000136.3(FANCC):c.216A>G (p.Ala72=) rs1057523069 0.00001
NM_000136.3(FANCC):c.957G>A (p.Thr319=) rs1060504647 0.00001
NM_000136.3(FANCC):c.1023T>C (p.Phe341=) rs758439579
NM_000136.3(FANCC):c.1071A>G (p.Gln357=) rs1057522128
NM_000136.3(FANCC):c.1200C>T (p.Phe400=) rs767215159
NM_000136.3(FANCC):c.1254C>T (p.Pro418=) rs1057521431
NM_000136.3(FANCC):c.1467C>T (p.His489=) rs1554828385
NM_000136.3(FANCC):c.1534-5del rs748342368
NM_000136.3(FANCC):c.336C>T (p.Ser112=) rs1057521125

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