ClinVar Miner

List of variants in gene CACNB2 reported as likely benign by Ambry Genetics

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 164
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_201596.3(CACNB2):c.873G>A (p.Leu291=) rs138423466 0.00355
NM_201596.3(CACNB2):c.915T>C (p.Phe305=) rs149586418 0.00282
NM_201596.3(CACNB2):c.1511C>T (p.Thr504Ile) rs143326262 0.00181
NM_201596.3(CACNB2):c.1975C>T (p.Arg659Cys) rs77141223 0.00115
NM_201596.3(CACNB2):c.354G>A (p.Ala118=) rs182163363 0.00107
NM_201596.3(CACNB2):c.1560T>C (p.Pro520=) rs150280879 0.00099
NM_201596.3(CACNB2):c.1553A>C (p.Glu518Ala) rs138060429 0.00079
NM_201596.3(CACNB2):c.641G>C (p.Ser214Thr) rs149253719 0.00078
NM_201596.3(CACNB2):c.590C>T (p.Ser197Phe) rs150528041 0.00064
NM_201596.3(CACNB2):c.1592G>A (p.Arg531His) rs184280124 0.00057
NM_201596.3(CACNB2):c.805-3C>T rs764050459 0.00052
NM_201596.3(CACNB2):c.1776C>A (p.Asp592Glu) rs144182966 0.00045
NM_201596.3(CACNB2):c.1650C>T (p.Ser550=) rs149330185 0.00032
NM_201596.3(CACNB2):c.1357C>T (p.Leu453Phe) rs145638628 0.00026
NM_201596.3(CACNB2):c.1936C>T (p.Arg646Trp) rs546669133 0.00026
NM_201596.3(CACNB2):c.380C>T (p.Ala127Val) rs200367454 0.00022
NM_201596.3(CACNB2):c.1055C>T (p.Ala352Val) rs144367884 0.00019
NM_201596.3(CACNB2):c.1591C>T (p.Arg531Cys) rs202152674 0.00019
NM_201596.3(CACNB2):c.1696G>A (p.Ala566Thr) rs202218948 0.00014
NM_201596.3(CACNB2):c.306G>A (p.Gln102=) rs571930944 0.00013
NM_201596.3(CACNB2):c.1140T>C (p.His380=) rs151199943 0.00010
NM_201596.3(CACNB2):c.1719T>C (p.Asp573=) rs781283574 0.00009
NM_201596.3(CACNB2):c.673A>G (p.Ile225Val) rs140542975 0.00009
NM_201596.3(CACNB2):c.1640G>A (p.Arg547His) rs377657305 0.00008
NM_201596.3(CACNB2):c.1025T>C (p.Ile342Thr) rs778426010 0.00007
NM_201596.3(CACNB2):c.214-61001T>C rs369696287 0.00007
NM_201596.3(CACNB2):c.966C>T (p.Thr322=) rs199847834 0.00007
NM_201596.3(CACNB2):c.1018G>A (p.Ala340Thr) rs140614930 0.00006
NM_201596.3(CACNB2):c.1076A>G (p.Glu359Gly) rs148674271 0.00006
NM_201596.3(CACNB2):c.1303-4G>A rs765944934 0.00006
NM_201596.3(CACNB2):c.1017C>T (p.His339=) rs747015946 0.00005
NM_201596.3(CACNB2):c.1092T>C (p.Leu364=) rs377767054 0.00005
NM_201596.3(CACNB2):c.1206+3A>T rs200174877 0.00005
NM_201596.3(CACNB2):c.1539T>C (p.Ala513=) rs191856144 0.00005
NM_201596.3(CACNB2):c.978G>A (p.Ser326=) rs753506761 0.00005
NM_201596.3(CACNB2):c.1671G>A (p.Ser557=) rs2228646 0.00004
NM_201596.3(CACNB2):c.1898G>A (p.Arg633His) rs780045364 0.00004
NM_201596.3(CACNB2):c.342C>T (p.Pro114=) rs368505003 0.00004
NM_201596.3(CACNB2):c.381G>A (p.Ala127=) rs371985646 0.00004
NM_201596.3(CACNB2):c.840C>T (p.Ser280=) rs755781519 0.00004
NM_201596.3(CACNB2):c.1833C>T (p.Asp611=) rs777607595 0.00003
NM_201596.3(CACNB2):c.576A>G (p.Gln192=) rs756710473 0.00003
NM_201596.3(CACNB2):c.807A>G (p.Thr269=) rs1173334982 0.00003
NM_201596.3(CACNB2):c.1260C>T (p.Asn420=) rs931370978 0.00002
NM_201596.3(CACNB2):c.1311C>T (p.Phe437=) rs560020203 0.00002
NM_201596.3(CACNB2):c.1713G>A (p.Lys571=) rs774536008 0.00002
NM_201596.3(CACNB2):c.1749C>G (p.Ala583=) rs755387775 0.00002
NM_201596.3(CACNB2):c.426C>T (p.Phe142=) rs564275776 0.00002
NM_201596.3(CACNB2):c.1122C>T (p.Asp374=) rs770364083 0.00001
NM_201596.3(CACNB2):c.1134T>C (p.Ile378=) rs1388696673 0.00001
NM_201596.3(CACNB2):c.1431C>T (p.Ser477=) rs764828520 0.00001
NM_201596.3(CACNB2):c.1602C>G (p.Ser534=) rs763107822 0.00001
NM_201596.3(CACNB2):c.1683G>A (p.Glu561=) rs773373763 0.00001
NM_201596.3(CACNB2):c.1695T>C (p.Ser565=) rs754860454 0.00001
NM_201596.3(CACNB2):c.1857C>T (p.Asn619=) rs774096122 0.00001
NM_201596.3(CACNB2):c.1874G>A (p.Arg625His) rs772911828 0.00001
NM_201596.3(CACNB2):c.1941T>C (p.Asn647=) rs749782217 0.00001
NM_201596.3(CACNB2):c.1944G>A (p.Glu648=) rs1226944672 0.00001
NM_201596.3(CACNB2):c.219G>A (p.Ser73=) rs779134360 0.00001
NM_201596.3(CACNB2):c.246C>G (p.Ser82=) rs758349246 0.00001
NM_201596.3(CACNB2):c.339G>A (p.Lys113=) rs748906162 0.00001
NM_201596.3(CACNB2):c.360G>A (p.Arg120=) rs775896337 0.00001
NM_201596.3(CACNB2):c.492A>G (p.Val164=) rs748311933 0.00001
NM_201596.3(CACNB2):c.503G>A (p.Cys168Tyr) rs773215003 0.00001
NM_201596.3(CACNB2):c.510C>T (p.Ile170=) rs760606646 0.00001
NM_201596.3(CACNB2):c.663A>G (p.Pro221=) rs1213446253 0.00001
NM_201596.3(CACNB2):c.762G>A (p.Thr254=) rs1212860668 0.00001
NM_201596.3(CACNB2):c.822G>A (p.Pro274=) rs199908591 0.00001
NM_201596.3(CACNB2):c.825T>C (p.Tyr275=) rs1294783650 0.00001
NM_201596.3(CACNB2):c.909G>A (p.Ala303=) rs144509796 0.00001
NM_201590.3(CACNB2):c.15C>A (p.Arg5=) rs2132070434
NM_201590.3(CACNB2):c.25C>G (p.Pro9Ala)
NM_201596.3(CACNB2):c.*33_*35del rs34022725
NM_201596.3(CACNB2):c.1041A>C (p.Thr347=)
NM_201596.3(CACNB2):c.1042A>C (p.Arg348=)
NM_201596.3(CACNB2):c.1102T>C (p.Leu368=)
NM_201596.3(CACNB2):c.1107G>A (p.Gln369=)
NM_201596.3(CACNB2):c.1108T>C (p.Leu370=)
NM_201596.3(CACNB2):c.1125G>A (p.Ala375=)
NM_201596.3(CACNB2):c.1125G>T (p.Ala375=)
NM_201596.3(CACNB2):c.1128T>C (p.Asp376=)
NM_201596.3(CACNB2):c.1131A>T (p.Thr377=)
NM_201596.3(CACNB2):c.1146T>A (p.Ala382=)
NM_201596.3(CACNB2):c.1146T>C (p.Ala382=)
NM_201596.3(CACNB2):c.1149A>G (p.Gln383=)
NM_201596.3(CACNB2):c.1152C>T (p.Leu384=)
NM_201596.3(CACNB2):c.1161C>A (p.Thr387=)
NM_201596.3(CACNB2):c.1197T>C (p.Ser399=)
NM_201596.3(CACNB2):c.1206+4_1206+7dup rs1456201116
NM_201596.3(CACNB2):c.1215A>G (p.Gln405=)
NM_201596.3(CACNB2):c.1216A>C (p.Arg406=)
NM_201596.3(CACNB2):c.1257C>T (p.Leu419=)
NM_201596.3(CACNB2):c.1272A>G (p.Val424=) rs748585975
NM_201596.3(CACNB2):c.1287G>A (p.Leu429=)
NM_201596.3(CACNB2):c.1302A>G (p.Pro434=) rs775556040
NM_201596.3(CACNB2):c.1308G>A (p.Leu436=)
NM_201596.3(CACNB2):c.1308G>C (p.Leu436=)
NM_201596.3(CACNB2):c.1344T>C (p.Asp448=)
NM_201596.3(CACNB2):c.1432C>T (p.Arg478Cys) rs551742573
NM_201596.3(CACNB2):c.1449A>T (p.Ser483=)
NM_201596.3(CACNB2):c.1459C>G (p.Leu487Val) rs2133325170
NM_201596.3(CACNB2):c.1461T>C (p.Leu487=)
NM_201596.3(CACNB2):c.1469C>A (p.Thr490Asn)
NM_201596.3(CACNB2):c.1479T>C (p.Ser493=)
NM_201596.3(CACNB2):c.1512T>G (p.Thr504=)
NM_201596.3(CACNB2):c.1521C>A (p.Ser507=) rs143060134
NM_201596.3(CACNB2):c.1521C>T (p.Ser507=) rs143060134
NM_201596.3(CACNB2):c.1557A>G (p.Glu519=)
NM_201596.3(CACNB2):c.1559C>T (p.Pro520Leu)
NM_201596.3(CACNB2):c.155T>G (p.Phe52Cys)
NM_201596.3(CACNB2):c.1575C>G (p.Val525=)
NM_201596.3(CACNB2):c.1591C>G (p.Arg531Gly) rs202152674
NM_201596.3(CACNB2):c.1641C>T (p.Arg547=)
NM_201596.3(CACNB2):c.1688G>A (p.Arg563Gln) rs766377211
NM_201596.3(CACNB2):c.1692C>T (p.Asp564=)
NM_201596.3(CACNB2):c.1702G>A (p.Val568Ile) rs142639223
NM_201596.3(CACNB2):c.1761C>T (p.Asp587=)
NM_201596.3(CACNB2):c.1776C>T (p.Asp592=) rs144182966
NM_201596.3(CACNB2):c.1806C>T (p.His602=) rs1472987021
NM_201596.3(CACNB2):c.1816C>T (p.Arg606Trp) rs61733968
NM_201596.3(CACNB2):c.1817G>C (p.Arg606Pro) rs577739840
NM_201596.3(CACNB2):c.1860G>A (p.Glu620=)
NM_201596.3(CACNB2):c.1884T>C (p.His628=)
NM_201596.3(CACNB2):c.1935A>G (p.Lys645=) rs772752419
NM_201596.3(CACNB2):c.1957A>C (p.Asn653His)
NM_201596.3(CACNB2):c.1971C>T (p.Tyr657=)
NM_201596.3(CACNB2):c.222A>G (p.Ala74=)
NM_201596.3(CACNB2):c.246C>T (p.Ser82=)
NM_201596.3(CACNB2):c.261T>G (p.Ser87=)
NM_201596.3(CACNB2):c.273C>T (p.Asp91=)
NM_201596.3(CACNB2):c.276G>A (p.Arg92=)
NM_201596.3(CACNB2):c.285G>A (p.Val95=)
NM_201596.3(CACNB2):c.301C>A (p.Arg101=) rs1357911128
NM_201596.3(CACNB2):c.318G>A (p.Gln106=)
NM_201596.3(CACNB2):c.348A>C (p.Ala116=)
NM_201596.3(CACNB2):c.354G>T (p.Ala118=) rs182163363
NM_201596.3(CACNB2):c.375C>T (p.Tyr125=)
NM_201596.3(CACNB2):c.432A>G (p.Ala144=)
NM_201596.3(CACNB2):c.444G>A (p.Leu148=)
NM_201596.3(CACNB2):c.447T>C (p.His149=)
NM_201596.3(CACNB2):c.492A>T (p.Val164=)
NM_201596.3(CACNB2):c.504T>C (p.Cys168=)
NM_201596.3(CACNB2):c.510C>A (p.Ile170=)
NM_201596.3(CACNB2):c.525C>T (p.Ser175=)
NM_201596.3(CACNB2):c.534A>G (p.Lys178=)
NM_201596.3(CACNB2):c.552G>A (p.Leu184=)
NM_201596.3(CACNB2):c.570C>T (p.Ala190=)
NM_201596.3(CACNB2):c.573G>A (p.Lys191=)
NM_201596.3(CACNB2):c.579G>A (p.Gly193=)
NM_201596.3(CACNB2):c.594-4C>T rs931745771
NM_201596.3(CACNB2):c.594T>C (p.Ser198=)
NM_201596.3(CACNB2):c.622T>C (p.Leu208=) rs538160664
NM_201596.3(CACNB2):c.651A>G (p.Lys217=)
NM_201596.3(CACNB2):c.666A>G (p.Ser222=)
NM_201596.3(CACNB2):c.693C>T (p.Gly231=)
NM_201596.3(CACNB2):c.711T>C (p.Asn237=) rs570005089
NM_201596.3(CACNB2):c.729C>T (p.His243=)
NM_201596.3(CACNB2):c.730C>T (p.Arg244Cys)
NM_201596.3(CACNB2):c.738T>C (p.Pro246=)
NM_201596.3(CACNB2):c.871C>T (p.Leu291=)
NM_201596.3(CACNB2):c.879C>T (p.Gly293=)
NM_201596.3(CACNB2):c.906A>G (p.Lys302=)
NM_201596.3(CACNB2):c.934T>C (p.Phe312Leu)
NM_201596.3(CACNB2):c.975C>T (p.Ile325=)

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.