ClinVar Miner

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

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Gene type:
ClinVar version:
Total variants: 84
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HGVS dbSNP gnomAD frequency
NM_006946.4(SPTBN2):c.3101T>C (p.Val1034Ala) rs506028 0.15920
NM_006946.4(SPTBN2):c.585C>T (p.Asn195=) rs34775878 0.08024
NM_006946.4(SPTBN2):c.4899G>A (p.Leu1633=) rs639938 0.06187
NM_006946.4(SPTBN2):c.5340C>T (p.Asn1780=) rs623022 0.04821
NM_006946.4(SPTBN2):c.5639G>A (p.Arg1880His) rs35532855 0.01604
NM_006946.4(SPTBN2):c.2473= (p.Ser825=) rs4930388 0.01249
NM_006946.4(SPTBN2):c.885+5T>C rs114331192 0.01156
NM_006946.4(SPTBN2):c.234G>A (p.Val78=) rs78309877 0.01155
NM_006946.4(SPTBN2):c.1011T>G (p.Leu337=) rs34275473 0.01154
NM_006946.4(SPTBN2):c.7020G>A (p.Pro2340=) rs61741217 0.00966
NM_006946.4(SPTBN2):c.285C>T (p.Leu95=) rs34117933 0.00956
NM_006946.4(SPTBN2):c.3686A>G (p.His1229Arg) rs114788199 0.00819
NM_006946.4(SPTBN2):c.6669G>A (p.Gly2223=) rs138819654 0.00560
NM_006946.4(SPTBN2):c.3282G>A (p.Pro1094=) rs114241603 0.00477
NM_006946.4(SPTBN2):c.6099G>A (p.Glu2033=) rs150696057 0.00458
NM_006946.4(SPTBN2):c.4447C>T (p.Arg1483Cys) rs115062978 0.00441
NM_006946.4(SPTBN2):c.2503G>A (p.Glu835Lys) rs36054877 0.00433
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.2526C>T (p.Gly842=) rs144939155 0.00173
NM_006946.4(SPTBN2):c.3429A>G (p.Leu1143=) rs35370566 0.00168
NM_006946.4(SPTBN2):c.1972C>T (p.Arg658Trp) rs199968321 0.00102
NM_006946.4(SPTBN2):c.6797C>T (p.Ala2266Val) rs145891813 0.00089
NM_006946.4(SPTBN2):c.157+5G>A rs150159444 0.00081
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.590A>G (p.Asn197Ser) rs148154681 0.00057
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.1719C>T (p.His573=) rs148207416 0.00036
NM_006946.4(SPTBN2):c.1764G>A (p.Arg588=) rs116534626 0.00036
NM_006946.4(SPTBN2):c.3671A>G (p.Asn1224Ser) rs139077453 0.00035
NM_006946.4(SPTBN2):c.6562G>A (p.Gly2188Ser) rs200876976 0.00031
NM_006946.4(SPTBN2):c.4800G>A (p.Ala1600=) rs146007976 0.00024
NM_006946.4(SPTBN2):c.2064C>T (p.Gly688=) rs376219874 0.00021
NM_006946.4(SPTBN2):c.2495G>A (p.Arg832Gln) rs749281906 0.00020
NM_006946.4(SPTBN2):c.3516C>T (p.His1172=) rs149829140 0.00019
NM_006946.4(SPTBN2):c.168A>G (p.Glu56=) rs145112518 0.00018
NM_006946.4(SPTBN2):c.3804G>A (p.Gln1268=) rs143537378 0.00016
NM_006946.4(SPTBN2):c.6798G>A (p.Ala2266=) rs140748364 0.00016
NM_006946.4(SPTBN2):c.768C>T (p.Pro256=) rs201821131 0.00016
NM_006946.4(SPTBN2):c.2455C>T (p.Arg819Cys) rs141021167 0.00014
NM_006946.4(SPTBN2):c.3963A>G (p.Ala1321=) rs142480868 0.00014
NM_006946.4(SPTBN2):c.4485C>T (p.Arg1495=) rs145930414 0.00014
NM_006946.4(SPTBN2):c.2022C>T (p.Thr674=) rs377439463 0.00012
NM_006946.4(SPTBN2):c.5310C>G (p.Ala1770=) rs142489577 0.00012
NM_006946.4(SPTBN2):c.5658C>T (p.Ala1886=) rs199624385 0.00012
NM_006946.4(SPTBN2):c.2844C>T (p.Asp948=) rs753959566 0.00011
NM_006946.4(SPTBN2):c.4632C>T (p.Ile1544=) rs139176086 0.00011
NM_006946.4(SPTBN2):c.5339A>G (p.Asn1780Ser) rs375849761 0.00011
NM_006946.4(SPTBN2):c.1479C>T (p.Ala493=) rs150837212 0.00009
NM_006946.4(SPTBN2):c.2262C>T (p.Ala754=) rs368022952 0.00009
NM_006946.4(SPTBN2):c.249C>T (p.Ser83=) rs141552965 0.00009
NM_006946.4(SPTBN2):c.2934C>G (p.Thr978=) rs777698637 0.00008
NM_006946.4(SPTBN2):c.2574C>T (p.Leu858=) rs559959631 0.00007
NM_006946.4(SPTBN2):c.1782C>T (p.Ala594=) rs377312636 0.00006
NM_006946.4(SPTBN2):c.3059G>A (p.Arg1020Gln) rs758312194 0.00006
NM_006946.4(SPTBN2):c.3693C>T (p.Leu1231=) rs768135548 0.00006
NM_006946.4(SPTBN2):c.6702C>T (p.Phe2234=) rs773474294 0.00006
NM_006946.4(SPTBN2):c.1245C>A (p.Thr415=) rs146719338 0.00005
NM_006946.4(SPTBN2):c.6386G>A (p.Arg2129Gln) rs777143650 0.00005
NM_006946.4(SPTBN2):c.5314G>A (p.Val1772Met) rs200189497 0.00004
NM_006946.4(SPTBN2):c.2817-8G>T rs142540439 0.00003
NM_006946.4(SPTBN2):c.4920C>T (p.Tyr1640=) rs562923443 0.00003
NM_006946.4(SPTBN2):c.1323C>T (p.Leu441=) rs764447133 0.00002
NM_006946.4(SPTBN2):c.1929C>G (p.Leu643=) rs747355437 0.00002
NM_006946.4(SPTBN2):c.3738C>T (p.Ala1246=) rs779091056 0.00001
NM_006946.4(SPTBN2):c.3873G>A (p.Lys1291=) rs759645170 0.00001
NM_006946.4(SPTBN2):c.4279-8G>A rs369614446 0.00001
NM_006946.4(SPTBN2):c.6990G>A (p.Ala2330=) rs372297351 0.00001
NM_006946.4(SPTBN2):c.963C>T (p.Ile321=) rs1456985458 0.00001
NM_006946.4(SPTBN2):c.1351-7G>A rs116078747
NM_006946.4(SPTBN2):c.1351-7G>T rs116078747
NM_006946.4(SPTBN2):c.1827G>T (p.Pro609=) rs776570497
NM_006946.4(SPTBN2):c.2771C>A (p.Pro924Gln) rs147327184
NM_006946.4(SPTBN2):c.3057T>A (p.Thr1019=) rs141552726
NM_006946.4(SPTBN2):c.4566C>T (p.Ser1522=) rs149464236
NM_006946.4(SPTBN2):c.4944G>A (p.Ala1648=) rs371267330
NM_006946.4(SPTBN2):c.5305C>A (p.Arg1769=) rs146455382
NM_006946.4(SPTBN2):c.5475G>A (p.Pro1825=) rs34806527
NM_006946.4(SPTBN2):c.6735C>T (p.Asn2245=) rs750664912

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