ClinVar Miner

List of variants in gene SPTBN2 reported as uncertain significance by Athena Diagnostics Inc

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 132
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_006946.4(SPTBN2):c.1504A>G (p.Ile502Val) rs751351000 0.00007
NM_006946.4(SPTBN2):c.2209G>A (p.Glu737Lys) rs766618779 0.00007
NM_006946.4(SPTBN2):c.2816+5G>A rs369265033 0.00007
NM_006946.4(SPTBN2):c.7051C>T (p.Arg2351Trp) rs753896989 0.00007
NM_006946.4(SPTBN2):c.1336C>T (p.Arg446Cys) rs147422843 0.00006
NM_006946.4(SPTBN2):c.5593C>T (p.Arg1865Trp) rs755595060 0.00006
NM_006946.4(SPTBN2):c.3824G>A (p.Arg1275Gln) rs534938954 0.00005
NM_006946.4(SPTBN2):c.4783C>T (p.Arg1595Cys) rs549977438 0.00005
NM_006946.4(SPTBN2):c.6280C>T (p.Arg2094Trp) rs368782432 0.00005
NM_006946.4(SPTBN2):c.232G>A (p.Val78Met) rs149918123 0.00004
NM_006946.4(SPTBN2):c.2647C>T (p.Arg883Cys) rs761263852 0.00004
NM_006946.4(SPTBN2):c.2729C>T (p.Ala910Val) rs532746761 0.00004
NM_006946.4(SPTBN2):c.5060G>A (p.Arg1687Gln) rs763770499 0.00004
NM_006946.4(SPTBN2):c.5083C>T (p.Arg1695Trp) rs150270569 0.00004
NM_006946.4(SPTBN2):c.5522G>A (p.Arg1841Gln) rs778218574 0.00004
NM_006946.4(SPTBN2):c.6250G>A (p.Glu2084Lys) rs145191943 0.00004
NM_006946.4(SPTBN2):c.6283C>T (p.Arg2095Trp) rs761960627 0.00004
NM_006946.4(SPTBN2):c.6752G>A (p.Arg2251Gln) rs763398880 0.00004
NM_006946.4(SPTBN2):c.692G>A (p.Cys231Tyr) rs773129687 0.00004
NM_006946.4(SPTBN2):c.7006G>A (p.Glu2336Lys) rs765015336 0.00004
NM_006946.4(SPTBN2):c.1160G>A (p.Arg387His) rs772590586 0.00003
NM_006946.4(SPTBN2):c.1303G>A (p.Ala435Thr) rs751975483 0.00003
NM_006946.4(SPTBN2):c.1882G>A (p.Glu628Lys) rs1027470381 0.00003
NM_006946.4(SPTBN2):c.3248G>A (p.Arg1083His) rs367949397 0.00003
NM_006946.4(SPTBN2):c.4648C>T (p.Arg1550Trp) rs757086442 0.00003
NM_006946.4(SPTBN2):c.5638C>T (p.Arg1880Cys) rs375691707 0.00003
NM_006946.4(SPTBN2):c.5826G>A (p.Ala1942=) rs373276784 0.00003
NM_006946.4(SPTBN2):c.5939C>A (p.Ala1980Glu) rs750934185 0.00003
NM_006946.4(SPTBN2):c.655C>T (p.Arg219Trp) rs770733211 0.00003
NM_006946.4(SPTBN2):c.6591C>T (p.Ser2197=) rs778388054 0.00003
NM_006946.4(SPTBN2):c.1266G>C (p.Lys422Asn) rs770892589 0.00002
NM_006946.4(SPTBN2):c.1501C>T (p.Arg501Cys) rs780836225 0.00002
NM_006946.4(SPTBN2):c.3844C>G (p.His1282Asp) rs778241858 0.00002
NM_006946.4(SPTBN2):c.4465G>A (p.Glu1489Lys) rs377750743 0.00002
NM_006946.4(SPTBN2):c.4593+3G>A rs915452792 0.00002
NM_006946.4(SPTBN2):c.5137C>T (p.Arg1713Cys) rs754809056 0.00002
NM_006946.4(SPTBN2):c.5404G>A (p.Glu1802Lys) rs149317715 0.00002
NM_006946.4(SPTBN2):c.6536G>A (p.Arg2179Gln) rs759206588 0.00002
NM_006946.4(SPTBN2):c.7039C>T (p.Arg2347Trp) rs746195427 0.00002
NM_006946.4(SPTBN2):c.1073+4G>A rs539652266 0.00001
NM_006946.4(SPTBN2):c.1129C>T (p.Arg377Trp) rs199861592 0.00001
NM_006946.4(SPTBN2):c.1511C>G (p.Ala504Gly) rs1454805342 0.00001
NM_006946.4(SPTBN2):c.1786C>T (p.Arg596Cys) rs533645041 0.00001
NM_006946.4(SPTBN2):c.2006C>T (p.Thr669Met) rs775522542 0.00001
NM_006946.4(SPTBN2):c.2383G>A (p.Glu795Lys) rs1387465998 0.00001
NM_006946.4(SPTBN2):c.2464G>A (p.Glu822Lys) rs771402351 0.00001
NM_006946.4(SPTBN2):c.2602G>A (p.Val868Met) rs1424804035 0.00001
NM_006946.4(SPTBN2):c.3281C>T (p.Pro1094Leu) rs748499520 0.00001
NM_006946.4(SPTBN2):c.3535C>T (p.Arg1179Trp) rs764276089 0.00001
NM_006946.4(SPTBN2):c.3667G>A (p.Ala1223Thr) rs765368981 0.00001
NM_006946.4(SPTBN2):c.3883G>A (p.Asp1295Asn) rs1449778004 0.00001
NM_006946.4(SPTBN2):c.4833G>C (p.Met1611Ile) rs1328577241 0.00001
NM_006946.4(SPTBN2):c.4960A>G (p.Met1654Val) rs1258204858 0.00001
NM_006946.4(SPTBN2):c.5003G>A (p.Arg1668His) rs746585059 0.00001
NM_006946.4(SPTBN2):c.5032G>A (p.Gly1678Ser) rs768814631 0.00001
NM_006946.4(SPTBN2):c.5102G>A (p.Arg1701His) rs907900432 0.00001
NM_006946.4(SPTBN2):c.5138G>A (p.Arg1713His) rs753738305 0.00001
NM_006946.4(SPTBN2):c.5284A>G (p.Ile1762Val) rs569231673 0.00001
NM_006946.4(SPTBN2):c.5540A>G (p.His1847Arg) rs765894915 0.00001
NM_006946.4(SPTBN2):c.5749C>T (p.Arg1917Trp) rs868609865 0.00001
NM_006946.4(SPTBN2):c.5803C>T (p.Arg1935Cys) rs530580113 0.00001
NM_006946.4(SPTBN2):c.5846A>G (p.Gln1949Arg) rs1940417909 0.00001
NM_006946.4(SPTBN2):c.5978C>T (p.Ala1993Val) rs368415742 0.00001
NM_006946.4(SPTBN2):c.6265A>T (p.Arg2089Trp) rs890981545 0.00001
NM_006946.4(SPTBN2):c.6720C>T (p.Asn2240=) rs754536144 0.00001
NM_006946.4(SPTBN2):c.6736G>A (p.Val2246Met) rs369469000 0.00001
NM_006946.4(SPTBN2):c.6802G>A (p.Val2268Met) rs750623875 0.00001
NM_006946.4(SPTBN2):c.7030A>C (p.Ser2344Arg) rs148840695 0.00001
NM_006946.4(SPTBN2):c.752C>T (p.Thr251Ile) rs373650492 0.00001
NM_006946.4(SPTBN2):c.1044C>T (p.Asn348=)
NM_006946.4(SPTBN2):c.1295G>A (p.Arg432His)
NM_006946.4(SPTBN2):c.1393C>G (p.Arg465Gly) rs1017538609
NM_006946.4(SPTBN2):c.1877T>C (p.Leu626Pro) rs1554984881
NM_006946.4(SPTBN2):c.1903G>A (p.Ala635Thr)
NM_006946.4(SPTBN2):c.2023G>C (p.Gly675Arg) rs776861052
NM_006946.4(SPTBN2):c.2194C>A (p.Leu732Ile)
NM_006946.4(SPTBN2):c.2237C>T (p.Ala746Val)
NM_006946.4(SPTBN2):c.2272G>T (p.Asp758Tyr) rs894025675
NM_006946.4(SPTBN2):c.2527G>A (p.Glu843Lys)
NM_006946.4(SPTBN2):c.2537G>A (p.Arg846Gln) rs1428439827
NM_006946.4(SPTBN2):c.2620T>C (p.Trp874Arg)
NM_006946.4(SPTBN2):c.265C>T (p.Arg89Cys) rs1565151375
NM_006946.4(SPTBN2):c.2702T>C (p.Met901Thr)
NM_006946.4(SPTBN2):c.2779G>T (p.Asp927Tyr) rs766125112
NM_006946.4(SPTBN2):c.2807T>C (p.Leu936Pro) rs2135418994
NM_006946.4(SPTBN2):c.2951C>A (p.Thr984Asn) rs1941221838
NM_006946.4(SPTBN2):c.2955G>A (p.Gln985=) rs1941221540
NM_006946.4(SPTBN2):c.310-3C>T rs1942089988
NM_006946.4(SPTBN2):c.3150C>T (p.Leu1050=)
NM_006946.4(SPTBN2):c.3166C>T (p.Arg1056Cys)
NM_006946.4(SPTBN2):c.3332G>C (p.Arg1111Pro) rs763945497
NM_006946.4(SPTBN2):c.3423C>G (p.Leu1141=) rs1941187600
NM_006946.4(SPTBN2):c.3494A>G (p.Gln1165Arg)
NM_006946.4(SPTBN2):c.3731T>G (p.Ile1244Ser) rs1565126661
NM_006946.4(SPTBN2):c.4014+7A>G
NM_006946.4(SPTBN2):c.4015-7C>T
NM_006946.4(SPTBN2):c.4070A>G (p.Lys1357Arg)
NM_006946.4(SPTBN2):c.4279-10C>T
NM_006946.4(SPTBN2):c.4514C>T (p.Thr1505Ile)
NM_006946.4(SPTBN2):c.4558C>G (p.Leu1520Val) rs767617743
NM_006946.4(SPTBN2):c.457G>C (p.Val153Leu) rs1554989084
NM_006946.4(SPTBN2):c.4621G>A (p.Glu1541Lys) rs748559171
NM_006946.4(SPTBN2):c.4907C>T (p.Ala1636Val) rs1484351160
NM_006946.4(SPTBN2):c.5042A>G (p.Glu1681Gly) rs756510588
NM_006946.4(SPTBN2):c.5057G>A (p.Arg1686Gln)
NM_006946.4(SPTBN2):c.5190+6T>C
NM_006946.4(SPTBN2):c.5356C>G (p.Leu1786Val)
NM_006946.4(SPTBN2):c.5378G>A (p.Arg1793Gln)
NM_006946.4(SPTBN2):c.5414G>A (p.Arg1805His) rs1222870637
NM_006946.4(SPTBN2):c.5432G>A (p.Arg1811His)
NM_006946.4(SPTBN2):c.5565+5G>C
NM_006946.4(SPTBN2):c.5659G>A (p.Glu1887Lys)
NM_006946.4(SPTBN2):c.5681G>A (p.Gly1894Glu) rs148293687
NM_006946.4(SPTBN2):c.5811-3dup
NM_006946.4(SPTBN2):c.5906T>C (p.Met1969Thr)
NM_006946.4(SPTBN2):c.611G>C (p.Ser204Thr)
NM_006946.4(SPTBN2):c.6182CAG[1] (p.Ala2062del)
NM_006946.4(SPTBN2):c.6231+3del
NM_006946.4(SPTBN2):c.6263A>G (p.Lys2088Arg)
NM_006946.4(SPTBN2):c.6284G>A (p.Arg2095Gln)
NM_006946.4(SPTBN2):c.6502-5C>A
NM_006946.4(SPTBN2):c.6567G>A (p.Pro2189=)
NM_006946.4(SPTBN2):c.6601G>A (p.Glu2201Lys) rs1256781556
NM_006946.4(SPTBN2):c.6620C>T (p.Thr2207Ile) rs1311464400
NM_006946.4(SPTBN2):c.6650C>T (p.Ala2217Val)
NM_006946.4(SPTBN2):c.6657G>A (p.Glu2219=)
NM_006946.4(SPTBN2):c.6680G>A (p.Arg2227His)
NM_006946.4(SPTBN2):c.6868C>T (p.Arg2290Ter)
NM_006946.4(SPTBN2):c.6897-6C>A
NM_006946.4(SPTBN2):c.753C>A (p.Thr251=)
NM_006946.4(SPTBN2):c.794A>G (p.Asp265Gly) rs1941830514
NM_006946.4(SPTBN2):c.794A>T (p.Asp265Val) rs1941830514

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.