ClinVar Miner

List of variants studied for Fanconi anemia complementation group B by Fulgent Genetics, Fulgent Genetics

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Total variants: 50
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HGVS dbSNP gnomAD frequency
NM_001018113.3(FANCB):c.76C>G (p.Gln26Glu) rs1316961996 0.00003
NM_001018113.3(FANCB):c.1702C>T (p.His568Tyr) rs763091316 0.00002
NM_001018113.3(FANCB):c.2195A>G (p.His732Arg) rs768405501 0.00002
NM_001018113.3(FANCB):c.458T>A (p.Ile153Asn) rs749099779 0.00002
NM_001018113.3(FANCB):c.688C>T (p.Pro230Ser) rs200970121 0.00002
NM_001018113.3(FANCB):c.1118A>G (p.Asp373Gly) rs866138487 0.00001
NM_001018113.3(FANCB):c.113C>T (p.Thr38Ile) rs2092465105 0.00001
NM_001018113.3(FANCB):c.1216C>T (p.Arg406Trp) rs1364046604 0.00001
NM_001018113.3(FANCB):c.1226G>A (p.Arg409Gln) rs753030842 0.00001
NM_001018113.3(FANCB):c.1327-1G>A rs1295003944 0.00001
NM_001018113.3(FANCB):c.1670A>T (p.Asp557Val) rs1336185048 0.00001
NM_001018113.3(FANCB):c.2293A>G (p.Lys765Glu) rs767721906 0.00001
NM_001018113.3(FANCB):c.2438G>T (p.Arg813Ile) rs995483698 0.00001
NM_001018113.3(FANCB):c.910A>G (p.Ile304Val) rs754238911 0.00001
NM_001018113.3(FANCB):c.1150C>G (p.Gln384Glu)
NM_001018113.3(FANCB):c.118A>G (p.Thr40Ala) rs2519013673
NM_001018113.3(FANCB):c.1217G>A (p.Arg406Gln)
NM_001018113.3(FANCB):c.1292A>G (p.Gln431Arg)
NM_001018113.3(FANCB):c.1304A>G (p.Asp435Gly) rs2518976411
NM_001018113.3(FANCB):c.1597A>G (p.Asn533Asp)
NM_001018113.3(FANCB):c.1623G>A (p.Met541Ile)
NM_001018113.3(FANCB):c.1640T>C (p.Leu547Ser)
NM_001018113.3(FANCB):c.1724T>A (p.Val575Glu)
NM_001018113.3(FANCB):c.1838G>C (p.Arg613Pro) rs144764663
NM_001018113.3(FANCB):c.1867A>C (p.Ser623Arg)
NM_001018113.3(FANCB):c.1991C>T (p.Ser664Leu) rs1555904350
NM_001018113.3(FANCB):c.2050A>G (p.Ile684Val)
NM_001018113.3(FANCB):c.2174C>A (p.Thr725Lys)
NM_001018113.3(FANCB):c.2176G>A (p.Val726Ile)
NM_001018113.3(FANCB):c.218A>G (p.His73Arg)
NM_001018113.3(FANCB):c.2245T>A (p.Ser749Thr)
NM_001018113.3(FANCB):c.2248G>A (p.Gly750Arg)
NM_001018113.3(FANCB):c.2267T>A (p.Ile756Asn)
NM_001018113.3(FANCB):c.2273A>G (p.Asn758Ser)
NM_001018113.3(FANCB):c.2281T>G (p.Phe761Val)
NM_001018113.3(FANCB):c.2329A>C (p.Ile777Leu)
NM_001018113.3(FANCB):c.2339A>G (p.His780Arg)
NM_001018113.3(FANCB):c.2354T>C (p.Met785Thr)
NM_001018113.3(FANCB):c.2454A>T (p.Arg818Ser)
NM_001018113.3(FANCB):c.41G>A (p.Arg14Lys) rs753239814
NM_001018113.3(FANCB):c.422T>C (p.Leu141Ser)
NM_001018113.3(FANCB):c.494G>A (p.Gly165Asp) rs2519011430
NM_001018113.3(FANCB):c.508A>C (p.Ile170Leu)
NM_001018113.3(FANCB):c.552G>T (p.Leu184Phe)
NM_001018113.3(FANCB):c.592C>G (p.Gln198Glu)
NM_001018113.3(FANCB):c.595G>A (p.Glu199Lys)
NM_001018113.3(FANCB):c.625A>G (p.Asn209Asp)
NM_001018113.3(FANCB):c.77A>G (p.Gln26Arg) rs2519014063
NM_001018113.3(FANCB):c.974T>C (p.Leu325Pro)
NM_001018113.3(FANCB):c.986T>A (p.Leu329Gln)

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