ClinVar Miner

List of variants reported as likely benign for Fanconi anemia complementation group C by Illumina Laboratory Services, Illumina

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.416G>A (p.Gly139Glu) rs1800362 0.01494
NM_000136.3(FANCC):c.-155A>C rs549658720 0.00998
NM_000136.3(FANCC):c.*1895T>C rs56161090 0.00488
NM_000136.3(FANCC):c.1394A>G (p.Gln465Arg) rs1800368 0.00361
NM_000136.3(FANCC):c.584A>T (p.Asp195Val) rs1800365 0.00275
NM_000136.3(FANCC):c.*1262T>C rs45520432 0.00155
NM_000136.3(FANCC):c.*1879C>T rs192262179 0.00107
NM_000136.3(FANCC):c.*593C>G rs561885351 0.00073
NM_000136.3(FANCC):c.*213T>G rs184733418 0.00046
NM_000136.3(FANCC):c.*660C>T rs114612660 0.00043
NM_000136.3(FANCC):c.*5C>T rs117175949 0.00033
NM_000136.3(FANCC):c.973G>A (p.Ala325Thr) rs201407189 0.00028
NM_000136.3(FANCC):c.*587C>T rs190544450 0.00020
NM_000136.3(FANCC):c.1407G>A (p.Thr469=) rs79722116 0.00020
NM_000136.3(FANCC):c.*250G>A rs193261247 0.00006
NM_000136.3(FANCC):c.*2271G>A rs562841213 0.00002
NM_000136.3(FANCC):c.*1516A>G rs541816451 0.00001
NM_000136.3(FANCC):c.*2164G>A rs566582636
NM_000136.3(FANCC):c.1485G>A (p.Leu495=) rs56082100

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