ClinVar Miner

Variants in gene SPTA1 with conflicting interpretations

See also:
Y axis minimum submission review status: Y axis collection method:
X axis minimum submission review status: X axis collection method:
Minimum conflict level:
Gene type:
ClinVar version:

If a variant has more than two submissions, it may have multiple conflicts and therefore be counted in more than one conflict column. If this is the case, the "Variants with any kind of conflict" cell will be less than the sum of the conflicted variants cells to its left.

Variants with only 1 submission per condition Variants with at least 2 submissions on the same condition and no conflicts Variants with a synonymous conflict
(e.g. benign vs non-pathogenic) 		Variants with a confidence conflict
(e.g. benign vs likely benign) 		Variants with a benign or likely benign vs uncertain conflict Variants with a category conflict
(e.g. benign vs affects) 		Variants with a clinically significant conflict
(e.g. benign vs pathogenic) 		Variants with any conflict
798 183 0 91 109 0 10 188

Significance breakdown #

In the table below, cells that correspond to a term paired with itself represent synonymous conflicts, i.e. variants that have been annotated with different terms that map to the same standard term. To compare the terms that were actually submitted, check the box in the filters section at the top of this page.

pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 0 28 1 3 2
likely pathogenic 28 0 7 1 2
uncertain significance 1 7 0 77 49
likely benign 3 1 77 0 63
benign 2 2 49 63 0

All variants with conflicting interpretations #

Total variants: 188
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_003126.4(SPTA1):c.6531-12C>T rs28525570 0.25447
NM_003126.4(SPTA1):c.5572C>G (p.Leu1858Val) rs3737515 0.25425
NM_003126.4(SPTA1):c.2909C>A (p.Ala970Asp) rs35948326 0.03419
NM_003126.4(SPTA1):c.2870C>T (p.Ala957Val) rs34706737 0.02931
NM_003126.4(SPTA1):c.5388G>A (p.Gln1796=) rs61140046 0.02445
NM_003126.4(SPTA1):c.3693C>T (p.Asp1231=) rs34773716 0.02215
NM_003126.4(SPTA1):c.2418G>A (p.Glu806=) rs35318623 0.02096
NM_003126.4(SPTA1):c.4453C>T (p.Leu1485Phe) rs34973695 0.01772
NM_003126.4(SPTA1):c.2472C>T (p.Asp824=) rs35856400 0.01596
NM_003126.4(SPTA1):c.2353C>A (p.Arg785=) rs2022057 0.01562
NM_003126.4(SPTA1):c.2373C>A (p.Asp791Glu) rs7418956 0.01431
NM_003126.4(SPTA1):c.4490G>A (p.Gly1497Glu) rs41273523 0.01332
NM_003126.4(SPTA1):c.2520G>C (p.Glu840Asp) rs34577746 0.01305
NM_003126.4(SPTA1):c.3171G>A (p.Gln1057=) rs35078963 0.01197
NM_003126.4(SPTA1):c.3989G>T (p.Arg1330Ile) rs34214405 0.00972
NM_003126.4(SPTA1):c.6559A>G (p.Lys2187Glu) rs111980420 0.00939
NM_003126.4(SPTA1):c.6437A>G (p.Gln2146Arg) rs138055271 0.00836
NM_003126.4(SPTA1):c.1958A>G (p.Tyr653Cys) rs148912436 0.00793
NM_003126.4(SPTA1):c.3037-14T>C rs142102801 0.00699
NM_003126.4(SPTA1):c.441C>T (p.Thr147=) rs73020287 0.00629
NM_003126.4(SPTA1):c.6672A>C (p.Glu2224Asp) rs142775522 0.00499
NM_003126.4(SPTA1):c.5834-15G>A rs192889943 0.00479
NM_003126.4(SPTA1):c.3160A>T (p.Thr1054Ser) rs145054175 0.00453
NM_003126.4(SPTA1):c.6850G>A (p.Asp2284Asn) rs138732899 0.00433
NM_003126.4(SPTA1):c.33G>C (p.Glu11Asp) rs41273533 0.00424
NM_003126.4(SPTA1):c.3398G>C (p.Arg1133Pro) rs35733059 0.00420
NM_003126.4(SPTA1):c.1078A>T (p.Thr360Ser) rs34133563 0.00401
NM_003126.4(SPTA1):c.5911G>A (p.Asp1971Asn) rs116466258 0.00337
NM_003126.4(SPTA1):c.4477C>T (p.Arg1493Trp) rs35237700 0.00325
NM_003126.4(SPTA1):c.793A>G (p.Asn265Asp) rs183647059 0.00307
NM_003126.4(SPTA1):c.1731G>T (p.Leu577Phe) rs34211240 0.00283
NM_003126.4(SPTA1):c.679G>A (p.Glu227Lys) rs199598260 0.00270
NM_003126.4(SPTA1):c.5838T>C (p.Asp1946=) rs200330662 0.00264
NM_003126.4(SPTA1):c.1817A>G (p.Asp606Gly) rs149441716 0.00259
NM_003126.4(SPTA1):c.798A>G (p.Leu266=) rs36058424 0.00250
NM_003126.4(SPTA1):c.3230G>A (p.Arg1077His) rs199612744 0.00249
NM_003126.4(SPTA1):c.4302G>A (p.Lys1434=) rs77182042 0.00231
NM_003126.4(SPTA1):c.1181A>G (p.Asn394Ser) rs111834376 0.00180
NM_003126.4(SPTA1):c.748C>T (p.Arg250Cys) rs143459302 0.00169
NM_003126.4(SPTA1):c.7104G>T (p.Lys2368Asn) rs112884419 0.00162
NM_003126.4(SPTA1):c.5118C>T (p.His1706=) rs200945419 0.00159
NM_003126.4(SPTA1):c.5256G>A (p.Leu1752=) rs141683960 0.00146
NM_003126.4(SPTA1):c.1982G>A (p.Arg661His) rs201845149 0.00145
NM_003126.4(SPTA1):c.6533C>T (p.Ala2178Val) rs115466520 0.00144
NM_003126.4(SPTA1):c.2296G>A (p.Ala766Thr) rs11265047 0.00137
NM_003126.4(SPTA1):c.5378G>A (p.Arg1793Gln) rs200938874 0.00127
NM_003126.4(SPTA1):c.6132G>C (p.Leu2044=) rs186987240 0.00125
NM_003126.4(SPTA1):c.192T>A (p.Asp64Glu) rs200860772 0.00117
NM_003126.4(SPTA1):c.775G>A (p.Ala259Thr) rs187932146 0.00113
NM_003126.4(SPTA1):c.174C>T (p.Phe58=) rs190704778 0.00110
NM_003126.4(SPTA1):c.3062A>T (p.Asp1021Val) rs200511900 0.00110
NM_003126.4(SPTA1):c.2600C>A (p.Ala867Glu) rs115877891 0.00108
NM_003126.4(SPTA1):c.373G>A (p.Ala125Thr) rs201771255 0.00105
NM_003126.4(SPTA1):c.3357G>C (p.Lys1119Asn) rs200230894 0.00098
NM_003126.4(SPTA1):c.2655T>C (p.Arg885=) rs368544526 0.00096
NM_003126.4(SPTA1):c.4591G>C (p.Ala1531Pro) rs143779235 0.00092
NM_003126.4(SPTA1):c.4694T>A (p.Leu1565Gln) rs202217097 0.00091
NM_003126.4(SPTA1):c.5310+17A>G rs371671685 0.00091
NM_003126.4(SPTA1):c.5457A>G (p.Leu1819=) rs186994154 0.00091
NM_003126.4(SPTA1):c.3108C>T (p.His1036=) rs34886778 0.00089
NM_003126.4(SPTA1):c.2889C>T (p.Asn963=) rs371639635 0.00086
NM_003126.4(SPTA1):c.3167G>T (p.Arg1056Leu) rs188875641 0.00076
NM_003126.4(SPTA1):c.4564A>G (p.Thr1522Ala) rs201910178 0.00073
NM_003126.4(SPTA1):c.4862T>A (p.Phe1621Tyr) rs374298000 0.00068
NM_003126.4(SPTA1):c.3389A>G (p.Asn1130Ser) rs202016242 0.00059
NM_003126.4(SPTA1):c.7068A>C (p.Glu2356Asp) rs78598639 0.00056
NM_003126.4(SPTA1):c.1688G>A (p.Arg563Gln) rs202243588 0.00051
NM_003126.4(SPTA1):c.4711T>G (p.Cys1571Gly) rs201601992 0.00049
NM_003126.4(SPTA1):c.3742C>T (p.Arg1248Trp) rs200714808 0.00043
NM_003126.4(SPTA1):c.3829C>T (p.Arg1277Cys) rs143642542 0.00042
NM_003126.4(SPTA1):c.2608G>A (p.Val870Met) rs140291959 0.00039
NM_003126.4(SPTA1):c.47A>T (p.Lys16Met) rs201634881 0.00039
NM_003126.4(SPTA1):c.5410C>T (p.Leu1804Phe) rs116959874 0.00038
NM_003126.4(SPTA1):c.1351-4A>G rs200868774 0.00037
NM_003126.4(SPTA1):c.1687C>T (p.Arg563Trp) rs369087649 0.00035
NM_003126.4(SPTA1):c.6235C>T (p.Arg2079Trp) rs372075053 0.00032
NM_003126.4(SPTA1):c.3839A>G (p.Asp1280Gly) rs200890386 0.00031
NM_003126.4(SPTA1):c.2020G>C (p.Glu674Gln) rs201806839 0.00029
NM_003126.4(SPTA1):c.401A>G (p.Glu134Gly) rs191151467 0.00029
NM_003126.4(SPTA1):c.4240C>T (p.Arg1414Cys) rs201399968 0.00026
NM_003126.4(SPTA1):c.329A>T (p.Glu110Val) rs368253777 0.00024
NM_003126.4(SPTA1):c.3622G>A (p.Ala1208Thr) rs180925766 0.00024
NM_003126.4(SPTA1):c.2216G>A (p.Arg739His) rs145972324 0.00021
NM_003126.4(SPTA1):c.3472C>T (p.Arg1158Trp) rs374770895 0.00019
NM_003126.4(SPTA1):c.620T>C (p.Leu207Pro) rs121918643 0.00019
NM_003126.4(SPTA1):c.5081G>A (p.Arg1694His) rs201822255 0.00018
NM_003126.4(SPTA1):c.466C>T (p.Arg156Trp) rs377051298 0.00017
NM_003126.4(SPTA1):c.2506A>G (p.Arg836Gly) rs201844450 0.00016
NM_003126.4(SPTA1):c.3841C>T (p.Arg1281Cys) rs199685020 0.00016
NM_003126.4(SPTA1):c.1702C>T (p.Arg568Cys) rs201395636 0.00015
NM_003126.4(SPTA1):c.4408G>A (p.Glu1470Lys) rs376552785 0.00014
NM_003126.4(SPTA1):c.4850G>A (p.Arg1617Gln) rs564887323 0.00014
NM_003126.4(SPTA1):c.5786C>G (p.Ala1929Gly) rs199547344 0.00014
NM_003126.4(SPTA1):c.6258G>A (p.Glu2086=) rs368317545 0.00013
NM_003126.4(SPTA1):c.427C>A (p.Leu143Met) rs746078222 0.00012
NM_003126.4(SPTA1):c.749G>A (p.Arg250His) rs759192785 0.00011
NM_003126.4(SPTA1):c.3940T>C (p.Ser1314Pro) rs200308788 0.00010
NM_003126.4(SPTA1):c.3697G>A (p.Val1233Ile) rs369125471 0.00009
NM_003126.4(SPTA1):c.4347G>T (p.Lys1449Asn) rs375506528 0.00009
NM_003126.4(SPTA1):c.5311-4T>A rs544472935 0.00009
NM_003126.4(SPTA1):c.1588G>A (p.Glu530Lys) rs767641820 0.00008
NM_003126.4(SPTA1):c.2665G>T (p.Ala889Ser) rs200293444 0.00008
NM_003126.4(SPTA1):c.4004G>A (p.Arg1335His) rs750860161 0.00008
NM_003126.4(SPTA1):c.6889C>T (p.Arg2297Trp) rs375016862 0.00008
NM_003126.4(SPTA1):c.2267T>C (p.Ile756Thr) rs118088187 0.00006
NM_003126.4(SPTA1):c.4708G>A (p.Ala1570Thr) rs778626016 0.00006
NM_003126.4(SPTA1):c.5049G>T (p.Gln1683His) rs746762359 0.00006
NM_003126.4(SPTA1):c.6136G>A (p.Val2046Met) rs202105292 0.00006
NM_003126.4(SPTA1):c.779T>C (p.Leu260Pro) rs121918634 0.00006
NM_003126.4(SPTA1):c.1598T>C (p.Ile533Thr) rs201913251 0.00005
NM_003126.4(SPTA1):c.2204C>T (p.Ala735Val) rs377362395 0.00005
NM_003126.4(SPTA1):c.5020C>T (p.Leu1674Phe) rs376908088 0.00005
NM_003126.4(SPTA1):c.6250G>C (p.Asp2084His) rs764529922 0.00005
NM_003126.4(SPTA1):c.2029A>G (p.Lys677Glu) rs761960429 0.00004
NM_003126.4(SPTA1):c.2588-3T>C rs375142282 0.00004
NM_003126.4(SPTA1):c.2812C>G (p.Leu938Val) rs36109350 0.00004
NM_003126.4(SPTA1):c.1175C>T (p.Ala392Val) rs748917509 0.00003
NM_003126.4(SPTA1):c.5915C>A (p.Thr1972Asn) rs201463616 0.00003
NM_003126.4(SPTA1):c.6869G>A (p.Arg2290His) rs759075251 0.00003
NM_003126.4(SPTA1):c.781T>C (p.Ser261Pro) rs121918636 0.00003
NM_003126.4(SPTA1):c.790G>C (p.Ala264Pro) rs758807774 0.00003
NM_003126.4(SPTA1):c.1124T>C (p.Phe375Ser) rs929328527 0.00002
NM_003126.4(SPTA1):c.209T>G (p.Met70Arg) rs1469938477 0.00002
NM_003126.4(SPTA1):c.4398T>G (p.Tyr1466Ter) rs761105413 0.00002
NM_003126.4(SPTA1):c.4580C>G (p.Ser1527Cys) rs746382885 0.00002
NM_003126.4(SPTA1):c.5431C>T (p.Arg1811Ter) rs770137350 0.00002
NM_003126.4(SPTA1):c.137G>T (p.Gly46Val) rs121918638 0.00001
NM_003126.4(SPTA1):c.1833+1G>A rs1035389616 0.00001
NM_003126.4(SPTA1):c.2806-13T>G rs757147440 0.00001
NM_003126.4(SPTA1):c.2905C>G (p.Gln969Glu) rs967975662 0.00001
NM_003126.4(SPTA1):c.2954T>C (p.Leu985Ser) rs774722673 0.00001
NM_003126.4(SPTA1):c.32A>G (p.Glu11Gly) rs769982359 0.00001
NM_003126.4(SPTA1):c.3314A>C (p.Asn1105Thr) rs200193956 0.00001
NM_003126.4(SPTA1):c.353G>A (p.Arg118Gln) rs761738511 0.00001
NM_003126.4(SPTA1):c.3674A>G (p.His1225Arg) rs758565569 0.00001
NM_003126.4(SPTA1):c.4339-2A>C rs368931075 0.00001
NM_003126.4(SPTA1):c.5040C>T (p.Asn1680=) rs749363866 0.00001
NM_003126.4(SPTA1):c.5336T>C (p.Leu1779Pro) rs577123327 0.00001
NM_003126.4(SPTA1):c.6452G>T (p.Arg2151Ile) rs202169454 0.00001
NM_003126.4(SPTA1):c.6631C>T (p.Arg2211Cys) rs773800556 0.00001
NM_003126.4(SPTA1):c.7134+2T>G rs1170758603 0.00001
NM_003126.4(SPTA1):c.802C>T (p.Arg268Ter) rs764157190 0.00001
NM_003126.4(SPTA1):c.-126dup rs34783066
NM_003126.4(SPTA1):c.101G>C (p.Arg34Pro) rs567686069
NM_003126.4(SPTA1):c.121C>A (p.Arg41=) rs121918640
NM_003126.4(SPTA1):c.1300C>G (p.Gln434Glu) rs924692638
NM_003126.4(SPTA1):c.1350+1G>C rs2525292291
NM_003126.4(SPTA1):c.1406_1408del (p.His469del) rs775280006
NM_003126.4(SPTA1):c.1703G>A (p.Arg568His) rs200829664
NM_003126.4(SPTA1):c.1703G>C (p.Arg568Pro) rs200829664
NM_003126.4(SPTA1):c.1834-14del rs3039789
NM_003126.4(SPTA1):c.1834-15_1834-14del rs3039789
NM_003126.4(SPTA1):c.1834-16_1834-14del rs3039789
NM_003126.4(SPTA1):c.1902G>A (p.Lys634=) rs374442926
NM_003126.4(SPTA1):c.24+1G>A rs772644757
NM_003126.4(SPTA1):c.2659C>T (p.Arg887Ter) rs757845058
NM_003126.4(SPTA1):c.2938C>T (p.Gln980Ter) rs539524312
NM_003126.4(SPTA1):c.2980C>T (p.Arg994Ter) rs1265895182
NM_003126.4(SPTA1):c.3374del (p.Lys1125fs) rs2525111885
NM_003126.4(SPTA1):c.3932T>C (p.Met1311Thr)
NM_003126.4(SPTA1):c.409C>A (p.Arg137Ser) rs772799574
NM_003126.4(SPTA1):c.4106dup (p.Leu1370fs) rs1161647781
NM_003126.4(SPTA1):c.4339-99C>T rs200830867
NM_003126.4(SPTA1):c.4443-9G>A rs369041875
NM_003126.4(SPTA1):c.460_462dup (p.Leu155dup) rs757679761
NM_003126.4(SPTA1):c.461TGC[3] (p.Leu155dup) rs749754226
NM_003126.4(SPTA1):c.4651C>T (p.Arg1551Ter) rs777656764
NM_003126.4(SPTA1):c.4833G>A (p.Arg1611=) rs145288947
NM_003126.4(SPTA1):c.5102T>A (p.Leu1701Ter) rs200748323
NM_003126.4(SPTA1):c.5834-18A>G rs1397822810
NM_003126.4(SPTA1):c.5911-17_5911-8del rs554241455
NM_003126.4(SPTA1):c.6120+11del rs750152009
NM_003126.4(SPTA1):c.6121-11del rs548425429
NM_003126.4(SPTA1):c.6154del (p.Ala2052fs) rs1485424248
NM_003126.4(SPTA1):c.6319C>T (p.Gln2107Ter) rs974172420
NM_003126.4(SPTA1):c.6421C>T (p.Arg2141Trp) rs41273519
NM_003126.4(SPTA1):c.6549-12G>A rs857716
NM_003126.4(SPTA1):c.678+7T>C rs1654731473
NM_003126.4(SPTA1):c.6788+1G>A rs2526183021
NM_003126.4(SPTA1):c.6789-19_6789-17dup rs5778083
NM_003126.4(SPTA1):c.6789-19_6789-18dup rs5778083
NM_003126.4(SPTA1):c.6789-19dup rs5778083
NM_003126.4(SPTA1):c.6789-8del rs5778083
NM_003126.4(SPTA1):c.6813_6814del (p.Glu2271fs) rs1649424538
NM_003126.4(SPTA1):c.6871del (p.Arg2290_Leu2291insTer) rs1396249069
NM_003126.4(SPTA1):c.83G>A (p.Arg28His) rs121918641
NM_003126.4(SPTA1):c.83G>T (p.Arg28Leu) rs121918641
NM_003126.4(SPTA1):c.853C>A (p.Pro285Thr) rs150007668

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