ClinVar Miner

List of variants in gene SPTBN2 reported by CeGaT Center for Human Genetics Tuebingen

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 86
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_006946.4(SPTBN2):c.1161C>T (p.Arg387=) rs74909073 0.00352
NM_006946.4(SPTBN2):c.5950-8G>A rs201759431 0.00277
NM_006946.4(SPTBN2):c.1416G>A (p.Thr472=) rs145249947 0.00245
NM_006946.4(SPTBN2):c.1068G>A (p.Pro356=) rs150080880 0.00239
NM_006946.4(SPTBN2):c.1221C>T (p.His407=) rs143596433 0.00212
NM_006946.4(SPTBN2):c.2526C>T (p.Gly842=) rs144939155 0.00173
NM_006946.4(SPTBN2):c.3429A>G (p.Leu1143=) rs35370566 0.00168
NM_006946.4(SPTBN2):c.3111C>T (p.Asn1037=) rs149124496 0.00145
NM_006946.4(SPTBN2):c.1972C>T (p.Arg658Trp) rs199968321 0.00102
NM_006946.4(SPTBN2):c.1722G>A (p.Glu574=) rs143083152 0.00100
NM_006946.4(SPTBN2):c.6797C>T (p.Ala2266Val) rs145891813 0.00089
NM_006946.4(SPTBN2):c.2904G>A (p.Thr968=) rs143948660 0.00081
NM_006946.4(SPTBN2):c.1456G>A (p.Ala486Thr) rs143155918 0.00077
NM_006946.4(SPTBN2):c.3116G>A (p.Arg1039Gln) rs148826890 0.00067
NM_006946.4(SPTBN2):c.3722A>G (p.Glu1241Gly) rs141683210 0.00056
NM_006946.4(SPTBN2):c.92C>T (p.Ser31Leu) rs147766428 0.00056
NM_006946.4(SPTBN2):c.3885C>T (p.Asp1295=) rs146526805 0.00053
NM_006946.4(SPTBN2):c.3671A>G (p.Asn1224Ser) rs139077453 0.00035
NM_006946.4(SPTBN2):c.2064C>T (p.Gly688=) rs376219874 0.00021
NM_006946.4(SPTBN2):c.3374G>A (p.Arg1125Gln) rs375601930 0.00016
NM_006946.4(SPTBN2):c.6798G>A (p.Ala2266=) rs140748364 0.00016
NM_006946.4(SPTBN2):c.6813C>T (p.His2271=) rs545082298 0.00016
NM_006946.4(SPTBN2):c.768C>T (p.Pro256=) rs201821131 0.00016
NM_006946.4(SPTBN2):c.3963A>G (p.Ala1321=) rs142480868 0.00014
NM_006946.4(SPTBN2):c.2238C>T (p.Ala746=) rs555186039 0.00013
NM_006946.4(SPTBN2):c.2022C>T (p.Thr674=) rs377439463 0.00012
NM_006946.4(SPTBN2):c.7109G>A (p.Arg2370His) rs145522851 0.00011
NM_006946.4(SPTBN2):c.2382G>A (p.Glu794=) rs368173749 0.00010
NM_006946.4(SPTBN2):c.2834G>A (p.Arg945His) rs377663856 0.00009
NM_006946.4(SPTBN2):c.1351-8C>T rs753293444 0.00008
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.5474C>T (p.Pro1825Leu) rs140642213 0.00007
NM_006946.4(SPTBN2):c.3718T>A (p.Ser1240Thr) rs376594612 0.00006
NM_006946.4(SPTBN2):c.3748C>T (p.Arg1250Trp) rs766723349 0.00006
NM_006946.4(SPTBN2):c.5413C>T (p.Arg1805Cys) rs373877632 0.00006
NM_006946.4(SPTBN2):c.6296C>A (p.Pro2099His) rs144563313 0.00005
NM_006946.4(SPTBN2):c.2647C>T (p.Arg883Cys) rs761263852 0.00004
NM_006946.4(SPTBN2):c.4396G>A (p.Val1466Met) rs763193925 0.00004
NM_006946.4(SPTBN2):c.6250G>A (p.Glu2084Lys) rs145191943 0.00004
NM_006946.4(SPTBN2):c.6929C>T (p.Ala2310Val) rs749226138 0.00004
NM_006946.4(SPTBN2):c.3248G>A (p.Arg1083His) rs367949397 0.00003
NM_006946.4(SPTBN2):c.2463C>T (p.Pro821=) rs946307634 0.00002
NM_006946.4(SPTBN2):c.3717A>G (p.Val1239=) rs369017203 0.00002
NM_006946.4(SPTBN2):c.5944G>A (p.Glu1982Lys) rs368916464 0.00002
NM_006946.4(SPTBN2):c.3037G>A (p.Ala1013Thr) rs148016656 0.00001
NM_006946.4(SPTBN2):c.3453A>G (p.Gly1151=) rs768932281 0.00001
NM_006946.4(SPTBN2):c.3830A>G (p.Asn1277Ser) rs746049954 0.00001
NM_006946.4(SPTBN2):c.4279-8G>A rs369614446 0.00001
NM_006946.4(SPTBN2):c.4433G>A (p.Arg1478Gln) rs761295502 0.00001
NM_006946.4(SPTBN2):c.4702G>A (p.Glu1568Lys) rs769450868 0.00001
NM_006946.4(SPTBN2):c.5505C>T (p.Ala1835=) rs368458475 0.00001
NM_006946.4(SPTBN2):c.6294G>A (p.Pro2098=) rs139653351 0.00001
NM_006946.4(SPTBN2):c.752C>T (p.Thr251Ile) rs373650492 0.00001
NM_006946.4(SPTBN2):c.963C>T (p.Ile321=) rs1456985458 0.00001
NM_006946.4(SPTBN2):c.1015G>A (p.Gly339Arg)
NM_006946.4(SPTBN2):c.1245C>T (p.Thr415=)
NM_006946.4(SPTBN2):c.1294C>T (p.Arg432Cys)
NM_006946.4(SPTBN2):c.1310G>A (p.Arg437Gln) rs1554986337
NM_006946.4(SPTBN2):c.1341C>G (p.Leu447=)
NM_006946.4(SPTBN2):c.1435G>A (p.Gly479Ser) rs1486743242
NM_006946.4(SPTBN2):c.1491C>T (p.His497=)
NM_006946.4(SPTBN2):c.158-1G>T
NM_006946.4(SPTBN2):c.1580_1581delinsGG (p.Leu527Arg) rs2135466117
NM_006946.4(SPTBN2):c.1949T>C (p.Val650Ala) rs1011637037
NM_006946.4(SPTBN2):c.2480T>C (p.Val827Ala)
NM_006946.4(SPTBN2):c.265C>T (p.Arg89Cys) rs1565151375
NM_006946.4(SPTBN2):c.2779G>T (p.Asp927Tyr) rs766125112
NM_006946.4(SPTBN2):c.2794A>G (p.Thr932Ala)
NM_006946.4(SPTBN2):c.3163C>A (p.Arg1055=) rs138022806
NM_006946.4(SPTBN2):c.3301G>T (p.Glu1101Ter)
NM_006946.4(SPTBN2):c.3492G>T (p.Arg1164=)
NM_006946.4(SPTBN2):c.3688G>A (p.Gly1230Arg)
NM_006946.4(SPTBN2):c.3719C>T (p.Ser1240Phe)
NM_006946.4(SPTBN2):c.3939_3950del (p.His1313_Trp1316del) rs1590931758
NM_006946.4(SPTBN2):c.4251C>T (p.Ser1417=)
NM_006946.4(SPTBN2):c.541G>A (p.Ala181Thr)
NM_006946.4(SPTBN2):c.5645T>C (p.Met1882Thr)
NM_006946.4(SPTBN2):c.5652C>A (p.Ala1884=)
NM_006946.4(SPTBN2):c.5991_5992del (p.Glu1997fs) rs1590911156
NM_006946.4(SPTBN2):c.5993C>T (p.Thr1998Ile)
NM_006946.4(SPTBN2):c.612C>T (p.Ser204=)
NM_006946.4(SPTBN2):c.6268GAG[3] (p.Glu2093del) rs752950222
NM_006946.4(SPTBN2):c.6722+1G>T
NM_006946.4(SPTBN2):c.6950G>C (p.Ser2317Thr)
NM_006946.4(SPTBN2):c.6980T>C (p.Ile2327Thr)

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.