ClinVar Miner

List of variants reported as likely benign for Fanconi anemia complementation group D2 by Illumina Laboratory Services, Illumina

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_001018115.3(FANCD2):c.4281+270A>G rs17032386 0.03356
NM_001018115.3(FANCD2):c.1367T>G (p.Leu456Arg) rs35782247 0.02918
NM_001018115.3(FANCD2):c.2484G>A (p.Lys828=) rs55980657 0.00869
NM_001018115.3(FANCD2):c.3105+15C>T rs460965 0.00770
NM_001018115.3(FANCD2):c.1634A>G (p.Asn545Ser) rs145522204 0.00460
NM_001018115.3(FANCD2):c.1336C>G (p.Leu446Val) rs34557223 0.00316
NM_001018115.3(FANCD2):c.4038+8G>A rs190990145 0.00047
NM_001018115.3(FANCD2):c.2469A>G (p.Gln823=) rs574054963 0.00001
NM_001018115.3(FANCD2):c.2022-5C>T rs4019784
NM_001018115.3(FANCD2):c.2067C>T (p.Tyr689=) rs763189891
NM_001018115.3(FANCD2):c.2613A>C (p.Lys871Asn) rs56041034

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