ClinVar Miner

List of variants in gene SPTBN2 reported as uncertain significance by Invitae

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Gene type:
ClinVar version:
Total variants: 178
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HGVS dbSNP gnomAD frequency
NM_006946.4(SPTBN2):c.1495A>T (p.Ile499Phe) rs370108116 0.00017
NM_006946.4(SPTBN2):c.1934G>A (p.Arg645His) rs536915281 0.00013
NM_006946.4(SPTBN2):c.406A>G (p.Met136Val) rs150610657 0.00012
NM_006946.4(SPTBN2):c.3431G>A (p.Arg1144Gln) rs558572111 0.00011
NM_006946.4(SPTBN2):c.1892C>T (p.Ala631Val) rs143795261 0.00009
NM_006946.4(SPTBN2):c.1457C>A (p.Ala486Asp) rs763948508 0.00007
NM_006946.4(SPTBN2):c.2816+5G>A rs369265033 0.00007
NM_006946.4(SPTBN2):c.3194G>A (p.Arg1065Gln) rs753324919 0.00007
NM_006946.4(SPTBN2):c.3059G>A (p.Arg1020Gln) rs758312194 0.00006
NM_006946.4(SPTBN2):c.3739G>A (p.Asp1247Asn) rs755140928 0.00006
NM_006946.4(SPTBN2):c.1895C>T (p.Ala632Val) rs757932120 0.00005
NM_006946.4(SPTBN2):c.2162G>A (p.Arg721His) rs200016211 0.00005
NM_006946.4(SPTBN2):c.4783C>T (p.Arg1595Cys) rs549977438 0.00005
NM_006946.4(SPTBN2):c.1838C>T (p.Ser613Leu) rs747019461 0.00004
NM_006946.4(SPTBN2):c.3298G>T (p.Ala1100Ser) rs375182533 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.692G>A (p.Cys231Tyr) rs773129687 0.00004
NM_006946.4(SPTBN2):c.1900C>T (p.Arg634Trp) rs766236489 0.00003
NM_006946.4(SPTBN2):c.5736C>G (p.Phe1912Leu) rs202247290 0.00003
NM_006946.4(SPTBN2):c.3844C>G (p.His1282Asp) rs778241858 0.00002
NM_006946.4(SPTBN2):c.3929G>A (p.Arg1310His) rs201852582 0.00002
NM_006946.4(SPTBN2):c.4330G>A (p.Ala1444Thr) rs765561071 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.5944G>A (p.Glu1982Lys) rs368916464 0.00002
NM_006946.4(SPTBN2):c.6501+14C>T rs775084048 0.00002
NM_006946.4(SPTBN2):c.704A>G (p.Tyr235Cys) rs748088213 0.00002
NM_006946.4(SPTBN2):c.1057G>A (p.Val353Met) rs1209084969 0.00001
NM_006946.4(SPTBN2):c.1484G>A (p.Arg495His) rs769277232 0.00001
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.1924C>T (p.Arg642Trp) rs781376193 0.00001
NM_006946.4(SPTBN2):c.2059C>T (p.Arg687Trp) rs1411263285 0.00001
NM_006946.4(SPTBN2):c.2224C>T (p.Arg742Trp) rs748547587 0.00001
NM_006946.4(SPTBN2):c.2995C>T (p.Arg999Cys) rs775043786 0.00001
NM_006946.4(SPTBN2):c.3011C>T (p.Thr1004Met) rs746835288 0.00001
NM_006946.4(SPTBN2):c.3022C>G (p.Leu1008Val) rs954882510 0.00001
NM_006946.4(SPTBN2):c.3041G>A (p.Arg1014Gln) rs1005600223 0.00001
NM_006946.4(SPTBN2):c.3281C>T (p.Pro1094Leu) rs748499520 0.00001
NM_006946.4(SPTBN2):c.4180G>A (p.Ala1394Thr) rs775970942 0.00001
NM_006946.4(SPTBN2):c.4360C>A (p.Gln1454Lys) rs761287825 0.00001
NM_006946.4(SPTBN2):c.4397T>C (p.Val1466Ala) rs148768325 0.00001
NM_006946.4(SPTBN2):c.4714C>T (p.Arg1572Cys) rs368125962 0.00001
NM_006946.4(SPTBN2):c.4900G>C (p.Glu1634Gln) rs1053842135 0.00001
NM_006946.4(SPTBN2):c.4922C>T (p.Ala1641Val) rs376009552 0.00001
NM_006946.4(SPTBN2):c.4986-3C>T rs763710370 0.00001
NM_006946.4(SPTBN2):c.5032G>A (p.Gly1678Ser) rs768814631 0.00001
NM_006946.4(SPTBN2):c.5591A>G (p.His1864Arg) rs780591556 0.00001
NM_006946.4(SPTBN2):c.5875C>T (p.Arg1959Trp) rs774111091 0.00001
NM_006946.4(SPTBN2):c.6962G>A (p.Arg2321Gln) rs757727990 0.00001
NM_006946.4(SPTBN2):c.1059G>A (p.Val353=) rs2135488623
NM_006946.4(SPTBN2):c.1074-10C>G rs1451080394
NM_006946.4(SPTBN2):c.1154C>T (p.Thr385Met)
NM_006946.4(SPTBN2):c.11C>A (p.Thr4Lys)
NM_006946.4(SPTBN2):c.121C>T (p.Arg41Cys)
NM_006946.4(SPTBN2):c.1225C>G (p.Arg409Gly)
NM_006946.4(SPTBN2):c.1231C>A (p.Leu411Met)
NM_006946.4(SPTBN2):c.1294C>T (p.Arg432Cys)
NM_006946.4(SPTBN2):c.1326C>A (p.Ser442Arg)
NM_006946.4(SPTBN2):c.1342G>A (p.Val448Met)
NM_006946.4(SPTBN2):c.1364T>C (p.Leu455Pro) rs2135468630
NM_006946.4(SPTBN2):c.1366G>A (p.Glu456Lys)
NM_006946.4(SPTBN2):c.1393C>T (p.Arg465Trp)
NM_006946.4(SPTBN2):c.1415C>T (p.Thr472Met)
NM_006946.4(SPTBN2):c.1513C>T (p.Arg505Trp) rs1474518395
NM_006946.4(SPTBN2):c.1550G>A (p.Arg517Gln)
NM_006946.4(SPTBN2):c.1817C>T (p.Pro606Leu)
NM_006946.4(SPTBN2):c.185C>A (p.Thr62Asn) rs2135526299
NM_006946.4(SPTBN2):c.1901G>A (p.Arg634Gln)
NM_006946.4(SPTBN2):c.2012G>A (p.Arg671Gln) rs1443491358
NM_006946.4(SPTBN2):c.2023G>C (p.Gly675Arg) rs776861052
NM_006946.4(SPTBN2):c.2050A>G (p.Thr684Ala) rs2135447991
NM_006946.4(SPTBN2):c.2060G>A (p.Arg687Gln)
NM_006946.4(SPTBN2):c.224C>T (p.Thr75Met)
NM_006946.4(SPTBN2):c.2368C>T (p.Arg790Trp)
NM_006946.4(SPTBN2):c.2398C>T (p.Arg800Trp)
NM_006946.4(SPTBN2):c.2503_2504delinsAG (p.Glu835Arg)
NM_006946.4(SPTBN2):c.2623C>T (p.Leu875Phe) rs906936058
NM_006946.4(SPTBN2):c.266G>A (p.Arg89His) rs374485184
NM_006946.4(SPTBN2):c.2767C>A (p.Pro923Thr) rs778457729
NM_006946.4(SPTBN2):c.2771C>T (p.Pro924Leu)
NM_006946.4(SPTBN2):c.2776A>G (p.Lys926Glu) rs1941251545
NM_006946.4(SPTBN2):c.2794A>G (p.Thr932Ala)
NM_006946.4(SPTBN2):c.2968G>T (p.Asp990Tyr)
NM_006946.4(SPTBN2):c.3046G>A (p.Gly1016Ser)
NM_006946.4(SPTBN2):c.3079G>T (p.Ala1027Ser)
NM_006946.4(SPTBN2):c.3247C>T (p.Arg1083Cys)
NM_006946.4(SPTBN2):c.3367C>T (p.Arg1123Trp)
NM_006946.4(SPTBN2):c.3559G>A (p.Val1187Met) rs369739429
NM_006946.4(SPTBN2):c.3573+14G>A
NM_006946.4(SPTBN2):c.3583C>A (p.Leu1195Met)
NM_006946.4(SPTBN2):c.3610C>T (p.Leu1204Phe)
NM_006946.4(SPTBN2):c.3616G>A (p.Ala1206Thr)
NM_006946.4(SPTBN2):c.3626C>T (p.Ala1209Val) rs778424143
NM_006946.4(SPTBN2):c.3688G>A (p.Gly1230Arg)
NM_006946.4(SPTBN2):c.3796G>T (p.Ala1266Ser)
NM_006946.4(SPTBN2):c.3845A>G (p.His1282Arg)
NM_006946.4(SPTBN2):c.3854A>G (p.Gln1285Arg)
NM_006946.4(SPTBN2):c.4014+3G>A
NM_006946.4(SPTBN2):c.4033C>T (p.Leu1345Phe)
NM_006946.4(SPTBN2):c.4049T>A (p.Leu1350Gln)
NM_006946.4(SPTBN2):c.4054G>A (p.Ala1352Thr)
NM_006946.4(SPTBN2):c.4126G>T (p.Ala1376Ser)
NM_006946.4(SPTBN2):c.4278+5G>C rs2135382326
NM_006946.4(SPTBN2):c.4295T>C (p.Met1432Thr)
NM_006946.4(SPTBN2):c.430G>A (p.Gly144Arg)
NM_006946.4(SPTBN2):c.4375G>A (p.Val1459Met)
NM_006946.4(SPTBN2):c.4388C>G (p.Ser1463Trp)
NM_006946.4(SPTBN2):c.4390A>G (p.Arg1464Gly)
NM_006946.4(SPTBN2):c.4405_4406inv (p.Lys1469Leu)
NM_006946.4(SPTBN2):c.4462C>T (p.Arg1488Cys) rs2135367650
NM_006946.4(SPTBN2):c.4486G>C (p.Asp1496His)
NM_006946.4(SPTBN2):c.4496A>T (p.Asp1499Val) rs1940755126
NM_006946.4(SPTBN2):c.4520G>A (p.Arg1507Gln) rs764921528
NM_006946.4(SPTBN2):c.4547A>G (p.His1516Arg)
NM_006946.4(SPTBN2):c.4581GAA[1] (p.Lys1529del) rs1473724229
NM_006946.4(SPTBN2):c.4633G>A (p.Ala1545Thr)
NM_006946.4(SPTBN2):c.4756G>C (p.Asp1586His) rs2135359300
NM_006946.4(SPTBN2):c.4779C>A (p.Phe1593Leu)
NM_006946.4(SPTBN2):c.4784G>A (p.Arg1595His)
NM_006946.4(SPTBN2):c.4821G>C (p.Gln1607His)
NM_006946.4(SPTBN2):c.4900G>A (p.Glu1634Lys) rs1053842135
NM_006946.4(SPTBN2):c.4935C>G (p.His1645Gln)
NM_006946.4(SPTBN2):c.4994T>C (p.Ile1665Thr)
NM_006946.4(SPTBN2):c.5018A>T (p.Asp1673Val)
NM_006946.4(SPTBN2):c.5094G>C (p.Gln1698His)
NM_006946.4(SPTBN2):c.5110G>C (p.Asp1704His)
NM_006946.4(SPTBN2):c.5135A>G (p.Glu1712Gly)
NM_006946.4(SPTBN2):c.5210G>A (p.Arg1737Gln)
NM_006946.4(SPTBN2):c.5221C>T (p.Arg1741Trp)
NM_006946.4(SPTBN2):c.5264A>G (p.Asn1755Ser)
NM_006946.4(SPTBN2):c.5308G>A (p.Ala1770Thr) rs372114770
NM_006946.4(SPTBN2):c.5320G>A (p.Glu1774Lys)
NM_006946.4(SPTBN2):c.5344G>A (p.Ala1782Thr)
NM_006946.4(SPTBN2):c.5359C>T (p.Leu1787Phe)
NM_006946.4(SPTBN2):c.5378G>A (p.Arg1793Gln)
NM_006946.4(SPTBN2):c.5381G>A (p.Gly1794Asp) rs1940543119
NM_006946.4(SPTBN2):c.5432G>A (p.Arg1811His)
NM_006946.4(SPTBN2):c.5459AGC[5] (p.Gln1823dup) rs1940534700
NM_006946.4(SPTBN2):c.5622G>T (p.Lys1874Asn) rs1427473228
NM_006946.4(SPTBN2):c.5624C>G (p.Ala1875Gly) rs2135330740
NM_006946.4(SPTBN2):c.5635G>A (p.Gly1879Ser)
NM_006946.4(SPTBN2):c.5644A>G (p.Met1882Val) rs2135330577
NM_006946.4(SPTBN2):c.5653G>A (p.Val1885Met)
NM_006946.4(SPTBN2):c.5659G>A (p.Glu1887Lys)
NM_006946.4(SPTBN2):c.5662G>A (p.Ala1888Thr)
NM_006946.4(SPTBN2):c.5698C>T (p.Arg1900Trp)
NM_006946.4(SPTBN2):c.5809C>T (p.Arg1937Trp)
NM_006946.4(SPTBN2):c.5827G>A (p.Asp1943Asn)
NM_006946.4(SPTBN2):c.6177G>C (p.Gln2059His)
NM_006946.4(SPTBN2):c.6209G>C (p.Cys2070Ser)
NM_006946.4(SPTBN2):c.6226A>G (p.Thr2076Ala)
NM_006946.4(SPTBN2):c.6231+3del
NM_006946.4(SPTBN2):c.6232-14G>T
NM_006946.4(SPTBN2):c.6255AAAGAG[1] (p.2086KR[1])
NM_006946.4(SPTBN2):c.6257A>G (p.Lys2086Arg)
NM_006946.4(SPTBN2):c.6268GAG[3] (p.Glu2093del) rs752950222
NM_006946.4(SPTBN2):c.6295C>T (p.Pro2099Ser) rs2135309758
NM_006946.4(SPTBN2):c.6314C>T (p.Ala2105Val) rs2135309500
NM_006946.4(SPTBN2):c.6372C>A (p.Asp2124Glu)
NM_006946.4(SPTBN2):c.6391C>G (p.Pro2131Ala)
NM_006946.4(SPTBN2):c.6460G>A (p.Gly2154Arg) rs1309310010
NM_006946.4(SPTBN2):c.657-5C>G
NM_006946.4(SPTBN2):c.6655G>C (p.Glu2219Gln)
NM_006946.4(SPTBN2):c.6671T>A (p.Met2224Lys)
NM_006946.4(SPTBN2):c.677A>C (p.Glu226Ala)
NM_006946.4(SPTBN2):c.6803T>C (p.Val2268Ala) rs767774651
NM_006946.4(SPTBN2):c.6874C>T (p.Arg2292Cys)
NM_006946.4(SPTBN2):c.6890A>C (p.Lys2297Thr)
NM_006946.4(SPTBN2):c.691T>A (p.Cys231Ser)
NM_006946.4(SPTBN2):c.6989C>T (p.Ala2330Val)
NM_006946.4(SPTBN2):c.7001C>T (p.Ser2334Phe)
NM_006946.4(SPTBN2):c.7004_7012del (p.Gly2335_Pro2337del) rs1365371309
NM_006946.4(SPTBN2):c.7120G>A (p.Gly2374Ser)
NM_006946.4(SPTBN2):c.803C>T (p.Ser268Leu)
NM_006946.4(SPTBN2):c.82C>T (p.Leu28Phe)

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