ClinVar Miner

List of variants in gene SEC23B reported as likely benign for familial hemolytic anemia

Included ClinVar conditions (77):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 314
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HGVS dbSNP gnomAD frequency
NM_006363.6(SEC23B):c.1276G>A (p.Val426Ile) rs41309927 0.04225
NM_006363.5(SEC23B):c.-57G>C rs113396443 0.01206
NM_006363.6(SEC23B):c.835-7A>G rs184484121 0.00317
NM_006363.6(SEC23B):c.1512T>C (p.Asn504=) rs138198461 0.00271
NM_006363.6(SEC23B):c.2298C>T (p.Ala766=) rs77945587 0.00228
NM_006363.6(SEC23B):c.1595G>C (p.Gly532Ala) rs143456757 0.00207
NM_006363.6(SEC23B):c.1317G>T (p.Glu439Asp) rs147410912 0.00176
NM_006363.6(SEC23B):c.993+10C>G rs201948587 0.00173
NM_006363.6(SEC23B):c.1198T>C (p.Phe400Leu) rs142461689 0.00084
NM_006363.6(SEC23B):c.74C>A (p.Pro25His) rs6045440 0.00050
NM_006363.6(SEC23B):c.358G>A (p.Val120Met) rs372784283 0.00031
NM_006363.6(SEC23B):c.1335G>A (p.Thr445=) rs146587686 0.00028
NM_006363.6(SEC23B):c.280-6T>C rs370880370 0.00028
NM_006363.6(SEC23B):c.2268C>T (p.Asp756=) rs530834583 0.00023
NM_006363.6(SEC23B):c.279+18A>T rs769730409 0.00021
NM_006363.6(SEC23B):c.1809A>G (p.Ser603=) rs139882548 0.00017
NM_006363.6(SEC23B):c.1527G>A (p.Gln509=) rs201943863 0.00016
NM_006363.6(SEC23B):c.2031G>A (p.Met677Ile) rs202187007 0.00012
NM_006363.6(SEC23B):c.835-11C>T rs370797703 0.00011
NM_006363.6(SEC23B):c.1884C>T (p.Tyr628=) rs766473215 0.00007
NM_006363.6(SEC23B):c.*278T>C rs564007974 0.00004
NM_006363.6(SEC23B):c.1491C>T (p.Arg497=) rs778443189 0.00004
NM_006363.6(SEC23B):c.1512-10G>T rs770601333 0.00002
NM_006363.6(SEC23B):c.328T>C (p.Leu110=) rs368413002 0.00002
NM_006363.6(SEC23B):c.1062T>C (p.Leu354=) rs758029042 0.00001
NM_006363.6(SEC23B):c.1234-11A>G rs187699090 0.00001
NM_006363.6(SEC23B):c.123C>T (p.Leu41=) rs554409729 0.00001
NM_006363.6(SEC23B):c.1299G>A (p.Pro433=) rs767683935 0.00001
NM_006363.6(SEC23B):c.1380C>A (p.Gly460=) rs201656419 0.00001
NM_006363.6(SEC23B):c.1413C>T (p.Thr471=) rs900752773 0.00001
NM_006363.6(SEC23B):c.1569T>C (p.Ala523=) rs921580564 0.00001
NM_006363.6(SEC23B):c.1815C>T (p.Tyr605=) rs779351917 0.00001
NM_006363.6(SEC23B):c.1992+12T>C rs780986610 0.00001
NM_006363.6(SEC23B):c.711G>A (p.Lys237=) rs773579451 0.00001
NM_006363.6(SEC23B):c.773A>G (p.Gln258Arg) rs534770840 0.00001
NM_006363.6(SEC23B):c.*9_*10del rs142180765
NM_006363.6(SEC23B):c.1020A>G (p.Thr340=)
NM_006363.6(SEC23B):c.1029T>C (p.Asn343=)
NM_006363.6(SEC23B):c.1044T>C (p.Asp348=)
NM_006363.6(SEC23B):c.1053T>C (p.Ala351=)
NM_006363.6(SEC23B):c.105T>C (p.Val35=)
NM_006363.6(SEC23B):c.1068A>G (p.Gln356=)
NM_006363.6(SEC23B):c.1071T>C (p.Thr357=)
NM_006363.6(SEC23B):c.1078T>C (p.Leu360=)
NM_006363.6(SEC23B):c.108A>G (p.Val36=)
NM_006363.6(SEC23B):c.1107T>A (p.Thr369=)
NM_006363.6(SEC23B):c.1109+10C>G
NM_006363.6(SEC23B):c.1109+11A>C
NM_006363.6(SEC23B):c.1109+19C>A
NM_006363.6(SEC23B):c.1109+7T>C
NM_006363.6(SEC23B):c.1110-20A>T
NM_006363.6(SEC23B):c.1110-5C>T
NM_006363.6(SEC23B):c.1144T>A (p.Ser382Thr)
NM_006363.6(SEC23B):c.1179T>C (p.Thr393=)
NM_006363.6(SEC23B):c.117T>C (p.Ala39=)
NM_006363.6(SEC23B):c.1191T>C (p.Asn397=)
NM_006363.6(SEC23B):c.1222T>C (p.Leu408=)
NM_006363.6(SEC23B):c.1227C>T (p.Asp409=)
NM_006363.6(SEC23B):c.1233+10A>C
NM_006363.6(SEC23B):c.1233+12T>A
NM_006363.6(SEC23B):c.1233+14_1233+15insA
NM_006363.6(SEC23B):c.1233+15T>A
NM_006363.6(SEC23B):c.1233+8_1233+9insG
NM_006363.6(SEC23B):c.1234-13A>C
NM_006363.6(SEC23B):c.1234-13A>G
NM_006363.6(SEC23B):c.1234-13A>T
NM_006363.6(SEC23B):c.1234-13del
NM_006363.6(SEC23B):c.1234-14_1234-13del rs765849514
NM_006363.6(SEC23B):c.1234-16C>A
NM_006363.6(SEC23B):c.1234-18G>A
NM_006363.6(SEC23B):c.1234-20C>T
NM_006363.6(SEC23B):c.1242G>A (p.Arg414=)
NM_006363.6(SEC23B):c.1275C>T (p.Cys425=)
NM_006363.6(SEC23B):c.1287T>C (p.Asn429=)
NM_006363.6(SEC23B):c.1314+12A>T
NM_006363.6(SEC23B):c.1314+16C>T
NM_006363.6(SEC23B):c.1314+18A>G
NM_006363.6(SEC23B):c.1315-16C>T
NM_006363.6(SEC23B):c.1315-4C>G
NM_006363.6(SEC23B):c.1315-5C>T
NM_006363.6(SEC23B):c.1315-6C>T
NM_006363.6(SEC23B):c.1315-7C>T
NM_006363.6(SEC23B):c.1315-8A>G
NM_006363.6(SEC23B):c.1326T>C (p.Val442=)
NM_006363.6(SEC23B):c.1332C>T (p.Gly444=)
NM_006363.6(SEC23B):c.1335G>T (p.Thr445=)
NM_006363.6(SEC23B):c.1341G>A (p.Gln447=)
NM_006363.6(SEC23B):c.1347A>G (p.Lys449=)
NM_006363.6(SEC23B):c.1374A>C (p.Thr458=)
NM_006363.6(SEC23B):c.1401T>C (p.Asn467=)
NM_006363.6(SEC23B):c.1404+17C>T
NM_006363.6(SEC23B):c.1404+20A>G
NM_006363.6(SEC23B):c.1405-15C>T
NM_006363.6(SEC23B):c.1416G>A (p.Pro472=)
NM_006363.6(SEC23B):c.1416G>C (p.Pro472=) rs748683808
NM_006363.6(SEC23B):c.1422C>T (p.Pro474=)
NM_006363.6(SEC23B):c.1425A>G (p.Gln475=)
NM_006363.6(SEC23B):c.1443C>T (p.Ile481=)
NM_006363.6(SEC23B):c.1455G>A (p.Thr485=)
NM_006363.6(SEC23B):c.1455G>C (p.Thr485=)
NM_006363.6(SEC23B):c.1479G>A (p.Gln493=)
NM_006363.6(SEC23B):c.1485C>T (p.Arg495=)
NM_006363.6(SEC23B):c.1506C>G (p.Ala502=)
NM_006363.6(SEC23B):c.1511+18C>T
NM_006363.6(SEC23B):c.1511+21_1511+24del
NM_006363.6(SEC23B):c.1512-11G>A
NM_006363.6(SEC23B):c.1512-19C>A
NM_006363.6(SEC23B):c.1512-5G>A
NM_006363.6(SEC23B):c.1512-7T>C
NM_006363.6(SEC23B):c.1521T>C (p.Asp507=)
NM_006363.6(SEC23B):c.1536C>A (p.Leu512=)
NM_006363.6(SEC23B):c.1539G>A (p.Arg513=)
NM_006363.6(SEC23B):c.153A>T (p.Leu51=)
NM_006363.6(SEC23B):c.1563G>A (p.Gln521=)
NM_006363.6(SEC23B):c.1578G>A (p.Val526=)
NM_006363.6(SEC23B):c.1596G>C (p.Gly532=)
NM_006363.6(SEC23B):c.1608G>A (p.Ala536=)
NM_006363.6(SEC23B):c.1611G>A (p.Glu537=)
NM_006363.6(SEC23B):c.1626C>G (p.Pro542=)
NM_006363.6(SEC23B):c.1626C>T (p.Pro542=)
NM_006363.6(SEC23B):c.162A>G (p.Val54=)
NM_006363.6(SEC23B):c.1632G>C (p.Val544=)
NM_006363.6(SEC23B):c.1638G>A (p.Arg546=) rs138623580
NM_006363.6(SEC23B):c.1638G>C (p.Arg546=)
NM_006363.6(SEC23B):c.1653A>G (p.Gln551=)
NM_006363.6(SEC23B):c.1656C>T (p.Leu552=)
NM_006363.6(SEC23B):c.165A>G (p.Gln55=)
NM_006363.6(SEC23B):c.1660C>A (p.Arg554=)
NM_006363.6(SEC23B):c.1665+14A>G
NM_006363.6(SEC23B):c.1665+17G>A
NM_006363.6(SEC23B):c.1665+20A>T
NM_006363.6(SEC23B):c.1665+8G>A
NM_006363.6(SEC23B):c.1666-16T>G
NM_006363.6(SEC23B):c.1671A>G (p.Gln557=)
NM_006363.6(SEC23B):c.1677T>C (p.Phe559=)
NM_006363.6(SEC23B):c.1680A>G (p.Gly560=)
NM_006363.6(SEC23B):c.1686T>C (p.Tyr562=)
NM_006363.6(SEC23B):c.168T>C (p.Tyr56=)
NM_006363.6(SEC23B):c.1701C>T (p.Pro567=)
NM_006363.6(SEC23B):c.1713G>A (p.Arg571=)
NM_006363.6(SEC23B):c.1719A>G (p.Ser573=)
NM_006363.6(SEC23B):c.1734A>G (p.Leu578=)
NM_006363.6(SEC23B):c.1743+20A>G
NM_006363.6(SEC23B):c.1744-10G>C
NM_006363.6(SEC23B):c.1744-14del
NM_006363.6(SEC23B):c.1744-16T>C
NM_006363.6(SEC23B):c.1744-18C>T
NM_006363.6(SEC23B):c.1744-8G>A
NM_006363.6(SEC23B):c.1753C>T (p.His585Tyr)
NM_006363.6(SEC23B):c.1764A>G (p.Arg588=)
NM_006363.6(SEC23B):c.1767T>G (p.Ser589=)
NM_006363.6(SEC23B):c.1803G>A (p.Glu601=)
NM_006363.6(SEC23B):c.1806G>A (p.Ser602=)
NM_006363.6(SEC23B):c.1816A>C (p.Arg606=)
NM_006363.6(SEC23B):c.1818A>G (p.Arg606=)
NM_006363.6(SEC23B):c.1824T>C (p.His608=)
NM_006363.6(SEC23B):c.183C>T (p.Cys61=)
NM_006363.6(SEC23B):c.1840C>T (p.Leu614=)
NM_006363.6(SEC23B):c.1866G>A (p.Gln622=)
NM_006363.6(SEC23B):c.1875C>G (p.Leu625=)
NM_006363.6(SEC23B):c.1881T>A (p.Ser627=)
NM_006363.6(SEC23B):c.1905+10dup
NM_006363.6(SEC23B):c.1905+12C>T
NM_006363.6(SEC23B):c.1905+16A>G
NM_006363.6(SEC23B):c.1905+8T>C
NM_006363.6(SEC23B):c.1905+8T>G
NM_006363.6(SEC23B):c.1905+9C>A
NM_006363.6(SEC23B):c.1906-11T>C
NM_006363.6(SEC23B):c.1906-12_1906-9del
NM_006363.6(SEC23B):c.1906-18C>G
NM_006363.6(SEC23B):c.1906-18C>T
NM_006363.6(SEC23B):c.1906-18_1906-14del
NM_006363.6(SEC23B):c.1906-19TC[2]
NM_006363.6(SEC23B):c.1906-19TC[3]
NM_006363.6(SEC23B):c.1906-7T>C
NM_006363.6(SEC23B):c.1906-8_1906-7del
NM_006363.6(SEC23B):c.1932T>C (p.Ile644=)
NM_006363.6(SEC23B):c.1953G>A (p.Leu651=)
NM_006363.6(SEC23B):c.195T>C (p.Thr65=)
NM_006363.6(SEC23B):c.1962T>G (p.Thr654=)
NM_006363.6(SEC23B):c.1992+14ATTA[2]
NM_006363.6(SEC23B):c.1992+15_1992+17del
NM_006363.6(SEC23B):c.1992+17A>G
NM_006363.6(SEC23B):c.1992+8G>A
NM_006363.6(SEC23B):c.1992+8_1992+10del
NM_006363.6(SEC23B):c.1993-18T>C
NM_006363.6(SEC23B):c.1993-20G>A
NM_006363.6(SEC23B):c.1993-6G>C
NM_006363.6(SEC23B):c.1993-7T>C
NM_006363.6(SEC23B):c.2001C>T (p.Ala667=)
NM_006363.6(SEC23B):c.2034C>T (p.Pro678=)
NM_006363.6(SEC23B):c.2040T>C (p.Tyr680=)
NM_006363.6(SEC23B):c.2055C>T (p.His685=)
NM_006363.6(SEC23B):c.2073G>A (p.Leu691=)
NM_006363.6(SEC23B):c.2094G>T (p.Leu698=)
NM_006363.6(SEC23B):c.2109G>A (p.Pro703=)
NM_006363.6(SEC23B):c.2121C>T (p.Tyr707=)
NM_006363.6(SEC23B):c.2122A>G (p.Ile708Val)
NM_006363.6(SEC23B):c.2130G>A (p.Thr710=)
NM_006363.6(SEC23B):c.2139A>T (p.Gly713=)
NM_006363.6(SEC23B):c.2148+10C>T
NM_006363.6(SEC23B):c.2148+16_2148+17insAGAGT
NM_006363.6(SEC23B):c.2148+17C>G
NM_006363.6(SEC23B):c.2148+7G>A
NM_006363.6(SEC23B):c.2149-12T>C
NM_006363.6(SEC23B):c.2149-13G>C
NM_006363.6(SEC23B):c.2149-19G>T
NM_006363.6(SEC23B):c.2149-21TTG[4] rs746737770
NM_006363.6(SEC23B):c.2151T>G (p.Ala717=)
NM_006363.6(SEC23B):c.2166C>G (p.Ser722=)
NM_006363.6(SEC23B):c.216A>G (p.Pro72=)
NM_006363.6(SEC23B):c.2178A>C (p.Pro726=)
NM_006363.6(SEC23B):c.2178A>G (p.Pro726=)
NM_006363.6(SEC23B):c.2181T>C (p.Ser727=)
NM_006363.6(SEC23B):c.2199G>C (p.Leu733=) rs1600281875
NM_006363.6(SEC23B):c.2202T>C (p.Tyr734=)
NM_006363.6(SEC23B):c.2205T>C (p.Ala735=)
NM_006363.6(SEC23B):c.221+10C>G
NM_006363.6(SEC23B):c.221+163A>G
NM_006363.6(SEC23B):c.221+31A>T
NM_006363.6(SEC23B):c.2214+10C>A
NM_006363.6(SEC23B):c.2214+13_2214+14del
NM_006363.6(SEC23B):c.2214+14del
NM_006363.6(SEC23B):c.2214+15G>A
NM_006363.6(SEC23B):c.2214+15G>T
NM_006363.6(SEC23B):c.2215-18T>C
NM_006363.6(SEC23B):c.2215-19C>T
NM_006363.6(SEC23B):c.2215-9A>G
NM_006363.6(SEC23B):c.222-15T>A
NM_006363.6(SEC23B):c.222-17_222-15del
NM_006363.6(SEC23B):c.222-19_222-17del
NM_006363.6(SEC23B):c.222-4A>G
NM_006363.6(SEC23B):c.222-7C>G
NM_006363.6(SEC23B):c.2220T>C (p.Thr740=)
NM_006363.6(SEC23B):c.2233C>T (p.Leu745=)
NM_006363.6(SEC23B):c.2241T>C (p.Asp747=)
NM_006363.6(SEC23B):c.2247T>C (p.Val749=)
NM_006363.6(SEC23B):c.2250C>T (p.Ser750=)
NM_006363.6(SEC23B):c.225G>A (p.Gln75=)
NM_006363.6(SEC23B):c.2286T>C (p.Ala762=)
NM_006363.6(SEC23B):c.2289C>T (p.Val763=)
NM_006363.6(SEC23B):c.246T>C (p.Leu82=)
NM_006363.6(SEC23B):c.24C>A (p.Ile8=)
NM_006363.6(SEC23B):c.24C>T (p.Ile8=)
NM_006363.6(SEC23B):c.279+13T>A
NM_006363.6(SEC23B):c.279+17T>A
NM_006363.6(SEC23B):c.280-10T>C
NM_006363.6(SEC23B):c.280-11C>T
NM_006363.6(SEC23B):c.280-12C>G
NM_006363.6(SEC23B):c.280-12C>T
NM_006363.6(SEC23B):c.280-13T>G
NM_006363.6(SEC23B):c.280-20_280-14del
NM_006363.6(SEC23B):c.280-8_280-6del
NM_006363.6(SEC23B):c.294T>C (p.Tyr98=)
NM_006363.6(SEC23B):c.300C>T (p.Gly100=)
NM_006363.6(SEC23B):c.318A>G (p.Gln106=)
NM_006363.6(SEC23B):c.324C>T (p.Ala108=)
NM_006363.6(SEC23B):c.354G>A (p.Glu118=)
NM_006363.6(SEC23B):c.357C>T (p.Tyr119=)
NM_006363.6(SEC23B):c.366+11T>C
NM_006363.6(SEC23B):c.366+13T>A
NM_006363.6(SEC23B):c.366+15G>C
NM_006363.6(SEC23B):c.366+17G>A
NM_006363.6(SEC23B):c.366+18C>T
NM_006363.6(SEC23B):c.690-17C>T
NM_006363.6(SEC23B):c.690-4_690-3dup
NM_006363.6(SEC23B):c.690-6T>C
NM_006363.6(SEC23B):c.690-7C>G
NM_006363.6(SEC23B):c.6G>A (p.Ala2=)
NM_006363.6(SEC23B):c.708C>T (p.His236=)
NM_006363.6(SEC23B):c.732T>C (p.Asp244=)
NM_006363.6(SEC23B):c.738T>C (p.Leu246=)
NM_006363.6(SEC23B):c.744G>A (p.Glu248=)
NM_006363.6(SEC23B):c.759A>G (p.Pro253=)
NM_006363.6(SEC23B):c.765A>G (p.Pro255=)
NM_006363.6(SEC23B):c.783A>G (p.Arg261=)
NM_006363.6(SEC23B):c.78C>T (p.Ser26=)
NM_006363.6(SEC23B):c.819T>C (p.Ala273=)
NM_006363.6(SEC23B):c.834+14T>C rs2148899499
NM_006363.6(SEC23B):c.834+17C>G
NM_006363.6(SEC23B):c.834+17C>T
NM_006363.6(SEC23B):c.835-10G>A
NM_006363.6(SEC23B):c.84G>A (p.Arg28=)
NM_006363.6(SEC23B):c.85C>T (p.Leu29=) rs886056525
NM_006363.6(SEC23B):c.873T>C (p.Phe291=)
NM_006363.6(SEC23B):c.879A>G (p.Gly293=)
NM_006363.6(SEC23B):c.87G>A (p.Leu29=)
NM_006363.6(SEC23B):c.888T>C (p.Pro296=)
NM_006363.6(SEC23B):c.891C>T (p.Thr297=)
NM_006363.6(SEC23B):c.897G>A (p.Gly299=)
NM_006363.6(SEC23B):c.897G>C (p.Gly299=)
NM_006363.6(SEC23B):c.912T>A (p.Val304=)
NM_006363.6(SEC23B):c.93T>G (p.Ala31=)
NM_006363.6(SEC23B):c.954T>C (p.Ile318=)
NM_006363.6(SEC23B):c.960A>G (p.Lys320=)
NM_006363.6(SEC23B):c.963T>C (p.Asp321=)
NM_006363.6(SEC23B):c.96A>G (p.Thr32=)
NM_006363.6(SEC23B):c.985G>T (p.Ala329Ser) rs143417821
NM_006363.6(SEC23B):c.990C>T (p.Thr330=)
NM_006363.6(SEC23B):c.993+11T>C
NM_006363.6(SEC23B):c.993+14G>A
NM_006363.6(SEC23B):c.993+14G>T
NM_006363.6(SEC23B):c.993+15G>C
NM_006363.6(SEC23B):c.993+8C>G
NM_006363.6(SEC23B):c.993+8C>T
NM_006363.6(SEC23B):c.994-10C>G
NM_006363.6(SEC23B):c.994-12C>T
NM_006363.6(SEC23B):c.994-13C>G
NM_006363.6(SEC23B):c.994-189T>A
NM_006363.6(SEC23B):c.994-189T>C
NM_006363.6(SEC23B):c.994-19A>G
NM_006363.6(SEC23B):c.994-20T>A
NM_006363.6(SEC23B):c.994-5C>T
NM_006363.6(SEC23B):c.9A>G (p.Thr3=)

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