ClinVar Miner

List of variants in gene FANCB reported as likely benign for bone development disease

Included ClinVar conditions (618):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 262
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HGVS dbSNP gnomAD frequency
NM_001018113.3(FANCB):c.402A>G (p.Leu134=) rs147260208 0.00701
NM_001018113.3(FANCB):c.1769T>C (p.Phe590Ser) rs142959373 0.00109
NM_001018113.3(FANCB):c.262G>A (p.Gly88Arg) rs142101123 0.00058
NM_001018113.3(FANCB):c.69T>C (p.Leu23=) rs151173533 0.00047
NM_001018113.3(FANCB):c.989T>C (p.Ile330Thr) rs200161949 0.00047
NM_001018113.3(FANCB):c.1067C>T (p.Ser356Leu) rs142304943 0.00046
NM_001018113.3(FANCB):c.1658C>T (p.Thr553Met) rs146157131 0.00039
NM_001018113.3(FANCB):c.1393T>C (p.Ser465Pro) rs143976596 0.00038
NM_001018113.3(FANCB):c.2452A>G (p.Arg818Gly) rs143131218 0.00038
NM_001018113.3(FANCB):c.2090C>T (p.Pro697Leu) rs147255018 0.00036
NM_001018113.3(FANCB):c.2228T>G (p.Phe743Cys) rs747865842 0.00031
NM_001018113.3(FANCB):c.2477C>T (p.Thr826Met) rs201436396 0.00031
NM_001018113.3(FANCB):c.1371C>T (p.Val457=) rs149695930 0.00029
NM_001018113.3(FANCB):c.1995C>T (p.Pro665=) rs192743430 0.00024
NM_001018113.3(FANCB):c.1140T>A (p.Phe380Leu) rs199909156 0.00020
NM_001018113.3(FANCB):c.1720T>A (p.Cys574Ser) rs200303151 0.00019
NM_001018113.3(FANCB):c.869T>C (p.Met290Thr) rs754552650 0.00014
NM_001018113.3(FANCB):c.2342A>G (p.Glu781Gly) rs140363445 0.00010
NM_001018113.3(FANCB):c.504C>G (p.Ser168=) rs373738816 0.00010
NM_001018113.3(FANCB):c.801A>C (p.Ser267=) rs773005941 0.00010
NM_001018113.3(FANCB):c.-232G>A rs756766337 0.00009
NM_001018113.3(FANCB):c.1570C>G (p.Gln524Glu) rs370248837 0.00009
NM_001018113.3(FANCB):c.1817G>A (p.Ser606Asn) rs148560784 0.00009
NM_001018113.3(FANCB):c.414T>A (p.Asn138Lys) rs201281219 0.00009
NM_001018113.3(FANCB):c.1077A>T (p.Ile359=) rs191379403 0.00008
NM_001018113.3(FANCB):c.330A>C (p.Leu110=) rs201633684 0.00008
NM_001018113.3(FANCB):c.362G>A (p.Arg121His) rs142289802 0.00008
NM_001018113.3(FANCB):c.833A>G (p.Gln278Arg) rs150435015 0.00008
NM_001018113.3(FANCB):c.1494G>T (p.Lys498Asn) rs199510538 0.00005
NM_001018113.3(FANCB):c.1838G>A (p.Arg613His) rs144764663 0.00005
NM_001018113.3(FANCB):c.197C>T (p.Thr66Ile) rs750180189 0.00005
NM_001018113.3(FANCB):c.388A>G (p.Met130Val) rs776724055 0.00005
NM_001018113.3(FANCB):c.1323G>A (p.Glu441=) rs1015824799 0.00004
NM_001018113.3(FANCB):c.162A>G (p.Thr54=) rs748284861 0.00004
NM_001018113.3(FANCB):c.2394C>T (p.Val798=) rs190579053 0.00004
NM_001018113.3(FANCB):c.493G>C (p.Gly165Arg) rs146131050 0.00004
NM_001018113.3(FANCB):c.1103C>T (p.Ser368Leu) rs143585647 0.00003
NM_001018113.3(FANCB):c.1899A>G (p.Leu633=) rs1232908863 0.00003
NM_001018113.3(FANCB):c.2435A>G (p.Tyr812Cys) rs780116069 0.00003
NM_001018113.3(FANCB):c.256A>G (p.Arg86Gly) rs1041477988 0.00003
NM_001018113.3(FANCB):c.510T>G (p.Ile170Met) rs775216604 0.00003
NM_001018113.3(FANCB):c.7A>G (p.Ser3Gly) rs139111718 0.00003
NM_001018113.3(FANCB):c.1042T>C (p.Ser348Pro) rs1425904046 0.00002
NM_001018113.3(FANCB):c.1079C>T (p.Thr360Met) rs138192474 0.00002
NM_001018113.3(FANCB):c.1327-11_1327-10insC rs1312589379 0.00002
NM_001018113.3(FANCB):c.1349G>A (p.Cys450Tyr) rs764817410 0.00002
NM_001018113.3(FANCB):c.199A>G (p.Ile67Val) rs761346761 0.00002
NM_001018113.3(FANCB):c.2301A>C (p.Leu767=) rs962222970 0.00002
NM_001018113.3(FANCB):c.2327C>T (p.Ala776Val) rs761492600 0.00002
NM_001018113.3(FANCB):c.2385T>C (p.Ser795=) rs1034395123 0.00002
NM_001018113.3(FANCB):c.2517T>C (p.Thr839=) rs760440816 0.00002
NM_001018113.3(FANCB):c.2554G>A (p.Ala852Thr) rs770685871 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.741C>A (p.Ile247=) rs760773732 0.00002
NM_001018113.3(FANCB):c.1179T>C (p.Pro393=) rs764156696 0.00001
NM_001018113.3(FANCB):c.1225C>T (p.Arg409Trp) rs750569208 0.00001
NM_001018113.3(FANCB):c.1314A>C (p.Ser438=) rs2092408394 0.00001
NM_001018113.3(FANCB):c.1552T>A (p.Phe518Ile) rs373632536 0.00001
NM_001018113.3(FANCB):c.1556G>A (p.Arg519Gln) rs1379342414 0.00001
NM_001018113.3(FANCB):c.1659G>A (p.Thr553=) rs767952529 0.00001
NM_001018113.3(FANCB):c.1746A>G (p.Thr582=) rs1228686996 0.00001
NM_001018113.3(FANCB):c.1755A>G (p.Ser585=) rs745472535 0.00001
NM_001018113.3(FANCB):c.183C>T (p.Ser61=) rs1317100453 0.00001
NM_001018113.3(FANCB):c.1894T>G (p.Tyr632Asp) rs149387792 0.00001
NM_001018113.3(FANCB):c.18A>G (p.Ala6=) rs2092465606 0.00001
NM_001018113.3(FANCB):c.1912A>G (p.Lys638Glu) rs776713934 0.00001
NM_001018113.3(FANCB):c.1924A>G (p.Ile642Val) rs370765798 0.00001
NM_001018113.3(FANCB):c.1928-20G>T rs780575945 0.00001
NM_001018113.3(FANCB):c.2379A>G (p.Gly793=) rs1374912480 0.00001
NM_001018113.3(FANCB):c.2563A>G (p.Lys855Glu) rs773885877 0.00001
NM_001018113.3(FANCB):c.318A>G (p.Glu106=) rs1215227353 0.00001
NM_001018113.3(FANCB):c.52T>C (p.Tyr18His) rs996732250 0.00001
NM_001018113.3(FANCB):c.609A>C (p.Ser203=) rs1206454126 0.00001
NM_001018113.3(FANCB):c.667T>C (p.Leu223=) rs1308832555 0.00001
NM_001018113.3(FANCB):c.884G>A (p.Gly295Glu) rs1270593506 0.00001
NM_001018113.3(FANCB):c.939A>G (p.Lys313=) rs767512088 0.00001
NM_001018113.3(FANCB):c.1062G>A (p.Leu354=)
NM_001018113.3(FANCB):c.1068A>G (p.Ser356=)
NM_001018113.3(FANCB):c.1080G>A (p.Thr360=)
NM_001018113.3(FANCB):c.1080G>C (p.Thr360=) rs754983238
NM_001018113.3(FANCB):c.1104+10A>G
NM_001018113.3(FANCB):c.1104+11T>C
NM_001018113.3(FANCB):c.1104+18A>C
NM_001018113.3(FANCB):c.1104+20T>G
NM_001018113.3(FANCB):c.1104+20_1104+22del
NM_001018113.3(FANCB):c.1105-16T>A
NM_001018113.3(FANCB):c.1105-26TATT[4] rs398123537
NM_001018113.3(FANCB):c.1105-26TATT[5] rs398123537
NM_001018113.3(FANCB):c.1105-5A>G
NM_001018113.3(FANCB):c.1105-7T>G
NM_001018113.3(FANCB):c.1105-9A>T
NM_001018113.3(FANCB):c.1110A>G (p.Glu370=)
NM_001018113.3(FANCB):c.1134C>T (p.Asp378=)
NM_001018113.3(FANCB):c.1167G>T (p.Leu389=)
NM_001018113.3(FANCB):c.1182A>G (p.Leu394=)
NM_001018113.3(FANCB):c.1191A>G (p.Gly397=) rs2147424764
NM_001018113.3(FANCB):c.1197+10T>C
NM_001018113.3(FANCB):c.1197+11G>A rs2147424729
NM_001018113.3(FANCB):c.1197+13_1197+15del rs2147424707
NM_001018113.3(FANCB):c.1197+8T>C
NM_001018113.3(FANCB):c.1212T>G (p.Ser404=)
NM_001018113.3(FANCB):c.1215T>A (p.Phe405Leu)
NM_001018113.3(FANCB):c.1216C>T (p.Arg406Trp) rs1364046604
NM_001018113.3(FANCB):c.123C>T (p.Pro41=)
NM_001018113.3(FANCB):c.1251A>G (p.Lys417=)
NM_001018113.3(FANCB):c.1257T>C (p.Ile419=) rs1601989714
NM_001018113.3(FANCB):c.1269C>T (p.Tyr423=)
NM_001018113.3(FANCB):c.1326+13_1326+14del
NM_001018113.3(FANCB):c.1326+16T>C rs747443650
NM_001018113.3(FANCB):c.1326+18A>G
NM_001018113.3(FANCB):c.1326+7G>C
NM_001018113.3(FANCB):c.1326+7del
NM_001018113.3(FANCB):c.1327-10T>A
NM_001018113.3(FANCB):c.1327-12dup rs202067682
NM_001018113.3(FANCB):c.1327-17T>G
NM_001018113.3(FANCB):c.1327-19_1327-16del rs766440560
NM_001018113.3(FANCB):c.1383T>C (p.Asp461=) rs2147405012
NM_001018113.3(FANCB):c.1428G>A (p.Glu476=)
NM_001018113.3(FANCB):c.1440T>C (p.Tyr480=)
NM_001018113.3(FANCB):c.1496+10T>C
NM_001018113.3(FANCB):c.1496+14A>G
NM_001018113.3(FANCB):c.1496+16C>A
NM_001018113.3(FANCB):c.1496+18dup
NM_001018113.3(FANCB):c.1496+19_1496+21del
NM_001018113.3(FANCB):c.1496+8A>T
NM_001018113.3(FANCB):c.1497-12G>T
NM_001018113.3(FANCB):c.1497-18del
NM_001018113.3(FANCB):c.1497-20A>G
NM_001018113.3(FANCB):c.1521A>G (p.Ser507=)
NM_001018113.3(FANCB):c.1521A>T (p.Ser507=)
NM_001018113.3(FANCB):c.1542T>C (p.His514=)
NM_001018113.3(FANCB):c.1549A>G (p.Arg517Gly)
NM_001018113.3(FANCB):c.1563A>G (p.Leu521=)
NM_001018113.3(FANCB):c.1566G>A (p.Lys522=) rs2092371545
NM_001018113.3(FANCB):c.1569T>C (p.Cys523=)
NM_001018113.3(FANCB):c.1578G>T (p.Arg526Ser)
NM_001018113.3(FANCB):c.1611A>G (p.Ala537=)
NM_001018113.3(FANCB):c.1617C>T (p.Tyr539=)
NM_001018113.3(FANCB):c.1620G>A (p.Leu540=)
NM_001018113.3(FANCB):c.1626A>G (p.Pro542=) rs1277532078
NM_001018113.3(FANCB):c.1683G>A (p.Glu561=)
NM_001018113.3(FANCB):c.1701A>G (p.Glu567=)
NM_001018113.3(FANCB):c.1707A>G (p.Pro569=) rs1555904427
NM_001018113.3(FANCB):c.171T>C (p.Phe57=)
NM_001018113.3(FANCB):c.1725A>G (p.Val575=)
NM_001018113.3(FANCB):c.1726C>G (p.Gln576Glu)
NM_001018113.3(FANCB):c.1767A>G (p.Thr589=) rs964099207
NM_001018113.3(FANCB):c.177G>A (p.Gln59=) rs1602006672
NM_001018113.3(FANCB):c.1788T>C (p.Thr596=)
NM_001018113.3(FANCB):c.1818T>C (p.Ser606=)
NM_001018113.3(FANCB):c.1872A>C (p.Leu624=)
NM_001018113.3(FANCB):c.1887T>G (p.Thr629=)
NM_001018113.3(FANCB):c.1896C>T (p.Tyr632=)
NM_001018113.3(FANCB):c.1927+13G>C
NM_001018113.3(FANCB):c.1927+16C>T
NM_001018113.3(FANCB):c.1927+8T>A
NM_001018113.3(FANCB):c.1927+9del
NM_001018113.3(FANCB):c.192T>C (p.Phe64=)
NM_001018113.3(FANCB):c.1950A>G (p.Ala650=)
NM_001018113.3(FANCB):c.1970A>G (p.Lys657Arg) rs2092368529
NM_001018113.3(FANCB):c.1992A>T (p.Ser664=) rs2147389619
NM_001018113.3(FANCB):c.2053A>G (p.Ile685Val)
NM_001018113.3(FANCB):c.207A>G (p.Glu69=)
NM_001018113.3(FANCB):c.2091G>A (p.Pro697=)
NM_001018113.3(FANCB):c.2100C>T (p.Phe700=)
NM_001018113.3(FANCB):c.2109A>G (p.Thr703=) rs1555904303
NM_001018113.3(FANCB):c.2112C>T (p.Leu704=)
NM_001018113.3(FANCB):c.2136A>G (p.Pro712=)
NM_001018113.3(FANCB):c.2139C>T (p.Phe713=)
NM_001018113.3(FANCB):c.2142A>G (p.Glu714=) rs2147389159
NM_001018113.3(FANCB):c.2165+12T>G
NM_001018113.3(FANCB):c.2165+18G>A
NM_001018113.3(FANCB):c.2165+18G>T
NM_001018113.3(FANCB):c.2166-14T>C
NM_001018113.3(FANCB):c.2166-15_2166-12del
NM_001018113.3(FANCB):c.2166-9T>C rs2147387583
NM_001018113.3(FANCB):c.2190C>T (p.Cys730=)
NM_001018113.3(FANCB):c.2193T>G (p.Leu731=) rs2147387445
NM_001018113.3(FANCB):c.2214C>A (p.Leu738=)
NM_001018113.3(FANCB):c.2214C>G (p.Leu738=)
NM_001018113.3(FANCB):c.2222A>T (p.Asn741Ile)
NM_001018113.3(FANCB):c.2229C>T (p.Phe743=)
NM_001018113.3(FANCB):c.2238T>C (p.Asn746=)
NM_001018113.3(FANCB):c.2241A>C (p.Leu747=) rs2147387279
NM_001018113.3(FANCB):c.2244A>G (p.Lys748=)
NM_001018113.3(FANCB):c.2271T>C (p.Asp757=)
NM_001018113.3(FANCB):c.2276T>C (p.Met759Thr)
NM_001018113.3(FANCB):c.2280A>T (p.Ala760=)
NM_001018113.3(FANCB):c.2299C>T (p.Leu767=)
NM_001018113.3(FANCB):c.2301A>G (p.Leu767=)
NM_001018113.3(FANCB):c.2322T>G (p.Ser774=)
NM_001018113.3(FANCB):c.2328C>T (p.Ala776=)
NM_001018113.3(FANCB):c.2340T>C (p.His780=)
NM_001018113.3(FANCB):c.2359A>C (p.Arg787=)
NM_001018113.3(FANCB):c.2361G>A (p.Arg787=)
NM_001018113.3(FANCB):c.2370G>A (p.Val790=)
NM_001018113.3(FANCB):c.2373C>T (p.Ser791=) rs2092363086
NM_001018113.3(FANCB):c.2391C>G (p.Val797=) rs778731279
NM_001018113.3(FANCB):c.2395G>A (p.Ala799Thr)
NM_001018113.3(FANCB):c.2397G>A (p.Ala799=)
NM_001018113.3(FANCB):c.2404T>C (p.Leu802=)
NM_001018113.3(FANCB):c.2406A>G (p.Leu802=)
NM_001018113.3(FANCB):c.2415A>G (p.Arg805=)
NM_001018113.3(FANCB):c.2433C>G (p.Pro811=) rs2147386620
NM_001018113.3(FANCB):c.2496T>A (p.Gly832=)
NM_001018113.3(FANCB):c.2520G>A (p.Leu840=)
NM_001018113.3(FANCB):c.2526A>T (p.Val842=)
NM_001018113.3(FANCB):c.2539T>C (p.Leu847=)
NM_001018113.3(FANCB):c.2556T>C (p.Ala852=)
NM_001018113.3(FANCB):c.2562G>A (p.Gln854=)
NM_001018113.3(FANCB):c.2565A>G (p.Lys855=)
NM_001018113.3(FANCB):c.2575T>C (p.Leu859=)
NM_001018113.3(FANCB):c.2577A>G (p.Leu859=)
NM_001018113.3(FANCB):c.273C>T (p.Leu91=)
NM_001018113.3(FANCB):c.291A>G (p.Glu97=)
NM_001018113.3(FANCB):c.300A>G (p.Lys100=)
NM_001018113.3(FANCB):c.30C>A (p.Asn10Lys) rs750078094
NM_001018113.3(FANCB):c.30C>T (p.Asn10=)
NM_001018113.3(FANCB):c.339C>T (p.His113=)
NM_001018113.3(FANCB):c.372T>C (p.Phe124=)
NM_001018113.3(FANCB):c.376C>T (p.Leu126=) rs1602006225
NM_001018113.3(FANCB):c.378A>G (p.Leu126=)
NM_001018113.3(FANCB):c.381C>T (p.Gly127=)
NM_001018113.3(FANCB):c.408C>T (p.Val136=)
NM_001018113.3(FANCB):c.417C>A (p.Gly139=)
NM_001018113.3(FANCB):c.417C>G (p.Gly139=)
NM_001018113.3(FANCB):c.447A>G (p.Ala149=)
NM_001018113.3(FANCB):c.447A>T (p.Ala149=)
NM_001018113.3(FANCB):c.468A>G (p.Gln156=)
NM_001018113.3(FANCB):c.480T>A (p.Val160=)
NM_001018113.3(FANCB):c.483T>C (p.Val161=)
NM_001018113.3(FANCB):c.501T>C (p.Phe167=)
NM_001018113.3(FANCB):c.560A>G (p.Lys187Arg)
NM_001018113.3(FANCB):c.591T>G (p.Thr197=)
NM_001018113.3(FANCB):c.603A>C (p.Ser201=)
NM_001018113.3(FANCB):c.615T>C (p.Tyr205=)
NM_001018113.3(FANCB):c.666A>G (p.Val222=)
NM_001018113.3(FANCB):c.681C>T (p.Tyr227=)
NM_001018113.3(FANCB):c.699C>T (p.Tyr233=)
NM_001018113.3(FANCB):c.706G>A (p.Val236Met) rs746389250
NM_001018113.3(FANCB):c.708G>A (p.Val236=) rs2147445876
NM_001018113.3(FANCB):c.720A>G (p.Val240=)
NM_001018113.3(FANCB):c.735T>C (p.Thr245=)
NM_001018113.3(FANCB):c.744C>A (p.Ile248=)
NM_001018113.3(FANCB):c.795G>A (p.Leu265=)
NM_001018113.3(FANCB):c.795G>T (p.Leu265=)
NM_001018113.3(FANCB):c.852T>C (p.Pro284=)
NM_001018113.3(FANCB):c.876A>G (p.Ser292=)
NM_001018113.3(FANCB):c.885A>G (p.Gly295=) rs1477082234
NM_001018113.3(FANCB):c.906C>T (p.Ser302=)
NM_001018113.3(FANCB):c.93T>C (p.Asn31=)
NM_001018113.3(FANCB):c.951+13T>C
NM_001018113.3(FANCB):c.951+19T>C
NM_001018113.3(FANCB):c.951+7C>T
NM_001018113.3(FANCB):c.952-13C>T rs1057515807
NM_001018113.3(FANCB):c.952-14T>C
NM_001018113.3(FANCB):c.952-16G>A
NM_001018113.3(FANCB):c.952-19A>G
NM_001018113.3(FANCB):c.970A>C (p.Lys324Gln)
NM_001018113.3(FANCB):c.987G>C (p.Leu329=)
NM_001018113.3(FANCB):c.990A>T (p.Ile330=) rs2147429139

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