ClinVar Miner

List of variants in gene combination FANCD2, LOC107303338 reported as benign by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

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Total variants: 14
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HGVS dbSNP gnomAD frequency
NM_001018115.3(FANCD2):c.696-138C>T rs35220123 0.20233
NM_001018115.3(FANCD2):c.1122A>G (p.Val374=) rs34046352 0.19892
NM_001018115.3(FANCD2):c.2141C>T (p.Pro714Leu) rs3864017 0.19295
NM_001018115.3(FANCD2):c.2712C>T (p.Asn904=) rs35594075 0.03203
NM_001018115.3(FANCD2):c.1367T>G (p.Leu456Arg) rs35782247 0.02918
NM_001018115.3(FANCD2):c.2124T>C (p.Phe708=) rs9809716 0.02768
NM_001018115.3(FANCD2):c.1868A>C (p.Gln623Pro) rs36070315 0.02463
NM_001018115.3(FANCD2):c.2484G>A (p.Lys828=) rs55980657 0.00869
NM_001018115.3(FANCD2):c.1170C>T (p.Ser390=) rs112887807
NM_001018115.3(FANCD2):c.1179T>C (p.Thr393=) rs72492998
NM_001018115.3(FANCD2):c.1275C>T (p.Tyr425=) rs764447374
NM_001018115.3(FANCD2):c.1401G>A (p.Thr467=) rs12330369
NM_001018115.3(FANCD2):c.1413+3A>G rs62245508
NM_001018115.3(FANCD2):c.2022-5C>T rs4019784

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