ClinVar Miner

List of variants in gene SPTBN2 reported by Ambry Genetics

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Gene type:
ClinVar version:
Total variants: 109
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HGVS dbSNP gnomAD frequency
NM_006946.4(SPTBN2):c.5980C>T (p.Arg1994Trp) rs140000699 0.00127
NM_006946.4(SPTBN2):c.1456G>A (p.Ala486Thr) rs143155918 0.00077
NM_006946.4(SPTBN2):c.6751C>T (p.Arg2251Trp) rs150607879 0.00061
NM_006946.4(SPTBN2):c.92C>T (p.Ser31Leu) rs147766428 0.00056
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.4418T>C (p.Leu1473Ser) rs146137419 0.00029
NM_006946.4(SPTBN2):c.6242G>A (p.Arg2081Gln) rs764407421 0.00028
NM_006946.4(SPTBN2):c.4374G>T (p.Glu1458Asp) rs142378119 0.00020
NM_006946.4(SPTBN2):c.5984G>A (p.Arg1995His) rs139107445 0.00019
NM_006946.4(SPTBN2):c.1676T>C (p.Leu559Pro) rs780084962 0.00018
NM_006946.4(SPTBN2):c.5495T>G (p.Leu1832Arg) rs202081167 0.00016
NM_006946.4(SPTBN2):c.2455C>T (p.Arg819Cys) rs141021167 0.00014
NM_006946.4(SPTBN2):c.6572C>T (p.Pro2191Leu) rs199880827 0.00014
NM_006946.4(SPTBN2):c.1934G>A (p.Arg645His) rs536915281 0.00013
NM_006946.4(SPTBN2):c.7109G>A (p.Arg2370His) rs145522851 0.00011
NM_006946.4(SPTBN2):c.3347G>A (p.Arg1116Gln) rs372569008 0.00009
NM_006946.4(SPTBN2):c.5383C>G (p.Gln1795Glu) rs144465703 0.00008
NM_006946.4(SPTBN2):c.5692G>A (p.Ala1898Thr) rs759505522 0.00008
NM_006946.4(SPTBN2):c.1457C>A (p.Ala486Asp) rs763948508 0.00007
NM_006946.4(SPTBN2):c.2209G>A (p.Glu737Lys) rs766618779 0.00007
NM_006946.4(SPTBN2):c.3194G>A (p.Arg1065Gln) rs753324919 0.00007
NM_006946.4(SPTBN2):c.5474C>T (p.Pro1825Leu) rs140642213 0.00007
NM_006946.4(SPTBN2):c.2944G>A (p.Glu982Lys) rs777790247 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.5593C>T (p.Arg1865Trp) rs755595060 0.00006
NM_006946.4(SPTBN2):c.6755G>A (p.Arg2252His) rs529514462 0.00006
NM_006946.4(SPTBN2):c.2162G>A (p.Arg721His) rs200016211 0.00005
NM_006946.4(SPTBN2):c.229C>T (p.Arg77Trp) rs200956071 0.00005
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.2729C>T (p.Ala910Val) rs532746761 0.00004
NM_006946.4(SPTBN2):c.3112G>A (p.Ala1038Thr) rs549918589 0.00004
NM_006946.4(SPTBN2):c.5696G>A (p.Arg1899His) rs201017398 0.00004
NM_006946.4(SPTBN2):c.6470G>A (p.Arg2157Lys) rs376920607 0.00004
NM_006946.4(SPTBN2):c.692G>A (p.Cys231Tyr) rs773129687 0.00004
NM_006946.4(SPTBN2):c.964G>A (p.Glu322Lys) rs759451802 0.00004
NM_006946.4(SPTBN2):c.1201C>T (p.Arg401Trp) rs746994330 0.00002
NM_006946.4(SPTBN2):c.4465G>A (p.Glu1489Lys) rs377750743 0.00002
NM_006946.4(SPTBN2):c.5944G>A (p.Glu1982Lys) rs368916464 0.00002
NM_006946.4(SPTBN2):c.6063T>G (p.Asp2021Glu) rs748137168 0.00002
NM_006946.4(SPTBN2):c.1654-5G>A rs1483027342 0.00001
NM_006946.4(SPTBN2):c.1753G>A (p.Glu585Lys) rs573639670 0.00001
NM_006946.4(SPTBN2):c.2161C>T (p.Arg721Cys) rs757150924 0.00001
NM_006946.4(SPTBN2):c.3830A>G (p.Asn1277Ser) rs746049954 0.00001
NM_006946.4(SPTBN2):c.6547C>G (p.Gln2183Glu) rs760467359 0.00001
NM_006946.4(SPTBN2):c.6679C>T (p.Arg2227Cys) rs1057524207 0.00001
NM_006946.4(SPTBN2):c.6736G>A (p.Val2246Met) rs369469000 0.00001
NM_006946.4(SPTBN2):c.6962G>A (p.Arg2321Gln) rs757727990 0.00001
NM_006946.4(SPTBN2):c.1202G>A (p.Arg401Gln)
NM_006946.4(SPTBN2):c.1282G>A (p.Ala428Thr)
NM_006946.4(SPTBN2):c.139C>T (p.Arg47Cys)
NM_006946.4(SPTBN2):c.1477G>A (p.Ala493Thr)
NM_006946.4(SPTBN2):c.1501C>G (p.Arg501Gly)
NM_006946.4(SPTBN2):c.1531C>T (p.Arg511Trp)
NM_006946.4(SPTBN2):c.1549C>T (p.Arg517Trp)
NM_006946.4(SPTBN2):c.1896_1919dup (p.Ala635_Arg642dup) rs1554984826
NM_006946.4(SPTBN2):c.1915G>T (p.Glu639Ter) rs769987150
NM_006946.4(SPTBN2):c.2117A>G (p.Gln706Arg)
NM_006946.4(SPTBN2):c.2215C>T (p.Arg739Cys)
NM_006946.4(SPTBN2):c.2250_2252del (p.Tyr750_Gln751delinsTer)
NM_006946.4(SPTBN2):c.2297C>T (p.Ala766Val)
NM_006946.4(SPTBN2):c.2472G>C (p.Gln824His)
NM_006946.4(SPTBN2):c.2503_2504delinsAG (p.Glu835Arg)
NM_006946.4(SPTBN2):c.2504A>G (p.Glu835Gly)
NM_006946.4(SPTBN2):c.2519G>A (p.Arg840Gln)
NM_006946.4(SPTBN2):c.2668G>A (p.Val890Met)
NM_006946.4(SPTBN2):c.2771C>A (p.Pro924Gln) rs147327184
NM_006946.4(SPTBN2):c.2771C>T (p.Pro924Leu)
NM_006946.4(SPTBN2):c.2831G>A (p.Arg944Gln)
NM_006946.4(SPTBN2):c.2892C>G (p.His964Gln)
NM_006946.4(SPTBN2):c.3007G>A (p.Gly1003Ser)
NM_006946.4(SPTBN2):c.3115C>T (p.Arg1039Trp)
NM_006946.4(SPTBN2):c.3163C>T (p.Arg1055Trp)
NM_006946.4(SPTBN2):c.3398G>A (p.Arg1133Gln)
NM_006946.4(SPTBN2):c.3494A>G (p.Gln1165Arg)
NM_006946.4(SPTBN2):c.3568A>G (p.Ser1190Gly)
NM_006946.4(SPTBN2):c.3569G>C (p.Ser1190Thr)
NM_006946.4(SPTBN2):c.3602C>T (p.Pro1201Leu)
NM_006946.4(SPTBN2):c.3828C>G (p.Asp1276Glu)
NM_006946.4(SPTBN2):c.3854A>G (p.Gln1285Arg)
NM_006946.4(SPTBN2):c.3967A>G (p.Met1323Val)
NM_006946.4(SPTBN2):c.4086C>G (p.His1362Gln)
NM_006946.4(SPTBN2):c.4529T>C (p.Met1510Thr)
NM_006946.4(SPTBN2):c.4885A>C (p.Lys1629Gln)
NM_006946.4(SPTBN2):c.4912G>A (p.Ala1638Thr)
NM_006946.4(SPTBN2):c.5210G>A (p.Arg1737Gln)
NM_006946.4(SPTBN2):c.5297A>T (p.His1766Leu)
NM_006946.4(SPTBN2):c.529T>G (p.Ser177Ala)
NM_006946.4(SPTBN2):c.5425G>T (p.Gly1809Trp)
NM_006946.4(SPTBN2):c.5459AGC[5] (p.Gln1823dup) rs1940534700
NM_006946.4(SPTBN2):c.5566-4G>A
NM_006946.4(SPTBN2):c.5635G>A (p.Gly1879Ser)
NM_006946.4(SPTBN2):c.5645T>C (p.Met1882Thr)
NM_006946.4(SPTBN2):c.5669C>G (p.Ala1890Gly)
NM_006946.4(SPTBN2):c.5953T>G (p.Ser1985Ala)
NM_006946.4(SPTBN2):c.6274G>A (p.Glu2092Lys)
NM_006946.4(SPTBN2):c.6331G>A (p.Asp2111Asn)
NM_006946.4(SPTBN2):c.6490C>T (p.Pro2164Ser)
NM_006946.4(SPTBN2):c.6493G>A (p.Glu2165Lys)
NM_006946.4(SPTBN2):c.6543G>C (p.Glu2181Asp)
NM_006946.4(SPTBN2):c.6553C>T (p.Arg2185Trp)
NM_006946.4(SPTBN2):c.6680G>A (p.Arg2227His)
NM_006946.4(SPTBN2):c.6950G>C (p.Ser2317Thr)
NM_006946.4(SPTBN2):c.703T>G (p.Tyr235Asp)
NM_006946.4(SPTBN2):c.7151G>A (p.Ser2384Asn)
NM_006946.4(SPTBN2):c.774C>G (p.Asp258Glu) rs139240091
NM_006946.4(SPTBN2):c.94G>T (p.Asp32Tyr)

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