ClinVar Miner

List of variants in gene CTSA reported as uncertain significance for Combined deficiency of sialidase AND beta galactosidase

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Total variants: 131
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HGVS dbSNP gnomAD frequency
NM_000308.4(CTSA):c.1342G>A (p.Ala448Thr) rs144407534 0.00029
NM_000308.4(CTSA):c.1059G>A (p.Pro353=) rs74694805 0.00019
NM_000308.4(CTSA):c.1088+3G>A rs372830379 0.00019
NM_000308.3(CTSA):c.-52G>A rs373024722 0.00016
NM_000308.4(CTSA):c.*50C>T rs370691011 0.00016
NM_000308.4(CTSA):c.160C>T (p.Leu54Phe) rs138615064 0.00016
NM_000308.4(CTSA):c.365A>G (p.Asn122Ser) rs199735882 0.00013
NM_000308.4(CTSA):c.948+5G>A rs201180372 0.00011
NM_000308.4(CTSA):c.977G>A (p.Arg326His) rs554534522 0.00010
NM_000308.4(CTSA):c.920G>A (p.Arg307His) rs199808601 0.00009
NM_000308.4(CTSA):c.1031C>T (p.Pro344Leu) rs368108194 0.00008
NM_000308.4(CTSA):c.1088+5G>C rs377189450 0.00007
NM_000308.4(CTSA):c.1409T>C (p.Met470Thr) rs771327084 0.00007
NM_000308.4(CTSA):c.938T>C (p.Met313Thr) rs759949142 0.00007
NM_000308.4(CTSA):c.769G>A (p.Val257Met) rs745752655 0.00006
NM_000308.4(CTSA):c.934C>T (p.Arg312Trp) rs368697828 0.00006
NM_000308.4(CTSA):c.1009G>C (p.Ala337Pro) rs374059459 0.00004
NM_000308.4(CTSA):c.1164+7G>A rs775198775 0.00004
NM_000308.4(CTSA):c.448G>A (p.Ala150Thr) rs779275701 0.00004
NM_000308.4(CTSA):c.980T>C (p.Met327Thr) rs140321228 0.00004
NM_000308.4(CTSA):c.-17G>A rs372800409 0.00003
NM_000308.4(CTSA):c.-6G>A rs1471695726 0.00003
NM_000308.4(CTSA):c.1040G>A (p.Arg347Gln) rs375345060 0.00003
NM_000308.4(CTSA):c.1124G>A (p.Arg375Gln) rs370763298 0.00003
NM_000308.4(CTSA):c.1268G>A (p.Arg423His) rs754739494 0.00003
NM_000308.4(CTSA):c.1315G>A (p.Gly439Ser) rs137854547 0.00003
NM_000308.4(CTSA):c.692+13G>A rs371053390 0.00003
NM_000308.4(CTSA):c.-12G>C rs770340993 0.00002
NM_000308.4(CTSA):c.1074A>T (p.Gln358His) rs766994463 0.00002
NM_000308.4(CTSA):c.1081A>G (p.Met361Val) rs752703552 0.00002
NM_000308.4(CTSA):c.1343C>T (p.Ala448Val) rs185187245 0.00002
NM_000308.4(CTSA):c.1361G>T (p.Gly454Val) rs373421813 0.00002
NM_000308.4(CTSA):c.319G>A (p.Gly107Ser) rs886056713 0.00002
NM_000308.4(CTSA):c.693-3C>T rs773034222 0.00002
NM_000308.4(CTSA):c.793C>T (p.Arg265Cys) rs763381306 0.00002
NM_000308.4(CTSA):c.-42C>T rs765245462 0.00001
NM_000308.4(CTSA):c.-43T>A rs779305626 0.00001
NM_000308.4(CTSA):c.1039C>T (p.Arg347Trp) rs1437597214 0.00001
NM_000308.4(CTSA):c.110G>C (p.Arg37Pro) rs751427255 0.00001
NM_000308.4(CTSA):c.1111C>T (p.Arg371Cys) rs766490643 0.00001
NM_000308.4(CTSA):c.1195G>A (p.Val399Ile) rs779857539 0.00001
NM_000308.4(CTSA):c.11C>G (p.Ala4Gly) rs1986920005 0.00001
NM_000308.4(CTSA):c.1270C>T (p.Arg424Trp) rs1247403237 0.00001
NM_000308.4(CTSA):c.1366G>A (p.Gly456Ser) rs200051553 0.00001
NM_000308.4(CTSA):c.1382C>A (p.Thr461Asn) rs149971062 0.00001
NM_000308.4(CTSA):c.1435C>G (p.Pro479Ala) rs1411857412 0.00001
NM_000308.4(CTSA):c.394G>A (p.Val132Met) rs137854545 0.00001
NM_000308.4(CTSA):c.533G>C (p.Ser178Thr) rs757124963 0.00001
NM_000308.4(CTSA):c.53T>G (p.Leu18Arg) rs749819661 0.00001
NM_000308.4(CTSA):c.600+3G>A rs1175825927 0.00001
NM_000308.4(CTSA):c.692+6G>A rs199997385 0.00001
NM_000308.4(CTSA):c.699G>A (p.Trp233Ter) rs766114836 0.00001
NM_000308.4(CTSA):c.724T>A (p.Ser242Thr) rs1381644117 0.00001
NM_000308.4(CTSA):c.839C>T (p.Pro280Leu) rs778824488 0.00001
NM_000308.4(CTSA):c.877A>G (p.Lys293Glu) rs779873368 0.00001
NM_000308.4(CTSA):c.-1+6C>A rs1164857603
NM_000308.4(CTSA):c.-15C>T rs188792776
NM_000308.4(CTSA):c.-18G>C rs1227051895
NM_000308.4(CTSA):c.-2A>C
NM_000308.4(CTSA):c.-41C>T rs750301506
NM_000308.4(CTSA):c.1024A>G (p.Asn342Asp)
NM_000308.4(CTSA):c.1043A>C (p.Lys348Thr) rs780430995
NM_000308.4(CTSA):c.1073A>C (p.Gln358Pro) rs543752177
NM_000308.4(CTSA):c.1073A>G (p.Gln358Arg)
NM_000308.4(CTSA):c.1087A>G (p.Asn363Asp)
NM_000308.4(CTSA):c.1089-3C>A rs764115103
NM_000308.4(CTSA):c.1089-4G>T rs2145822510
NM_000308.4(CTSA):c.1096G>A (p.Val366Ile)
NM_000308.4(CTSA):c.1099A>G (p.Asn367Asp)
NM_000308.4(CTSA):c.1114C>T (p.Arg372Cys)
NM_000308.4(CTSA):c.115C>G (p.Pro39Ala) rs1483740187
NM_000308.4(CTSA):c.1163A>G (p.Gln388Arg)
NM_000308.4(CTSA):c.1231T>C (p.Phe411Leu) rs2145823811
NM_000308.4(CTSA):c.1234G>A (p.Val412Met)
NM_000308.4(CTSA):c.1247A>G (p.Asn416Ser) rs2145823832
NM_000308.4(CTSA):c.1254+5G>T
NM_000308.4(CTSA):c.1254+6del rs1433470100
NM_000308.4(CTSA):c.1255-3C>A
NM_000308.4(CTSA):c.1255-7G>A
NM_000308.4(CTSA):c.1267C>T (p.Arg423Cys)
NM_000308.4(CTSA):c.1359+6G>T
NM_000308.4(CTSA):c.1383C>T (p.Thr461=)
NM_000308.4(CTSA):c.176C>T (p.Ser59Phe)
NM_000308.4(CTSA):c.191A>C (p.Tyr64Ser)
NM_000308.4(CTSA):c.194+3C>T rs1986958974
NM_000308.4(CTSA):c.195-12C>G
NM_000308.4(CTSA):c.195-7dup rs780400265
NM_000308.4(CTSA):c.1A>G (p.Met1Val)
NM_000308.4(CTSA):c.233T>C (p.Val78Ala) rs1055279552
NM_000308.4(CTSA):c.248A>G (p.Asn83Ser) rs758876717
NM_000308.4(CTSA):c.254G>T (p.Gly85Val) rs1360623902
NM_000308.4(CTSA):c.257C>T (p.Pro86Leu) rs2145814296
NM_000308.4(CTSA):c.33GCT[10] (p.Leu18_Leu19dup) rs72555383
NM_000308.4(CTSA):c.33GCT[11] (p.Leu17_Leu19dup) rs72555383
NM_000308.4(CTSA):c.33GCT[4] (p.Leu16_Leu19del) rs72555383
NM_000308.4(CTSA):c.33GCT[5] (p.Leu17_Leu19del) rs72555383
NM_000308.4(CTSA):c.357+3A>G rs1413013327
NM_000308.4(CTSA):c.358-5T>G rs375266196
NM_000308.4(CTSA):c.359T>C (p.Ile120Thr) rs1601139705
NM_000308.4(CTSA):c.380A>T (p.Glu127Val) rs2145815136
NM_000308.4(CTSA):c.388G>C (p.Ala130Pro) rs376642070
NM_000308.4(CTSA):c.425A>G (p.Tyr142Cys) rs2145815279
NM_000308.4(CTSA):c.428C>T (p.Ala143Val)
NM_000308.4(CTSA):c.44T>A (p.Leu15Gln)
NM_000308.4(CTSA):c.467C>T (p.Ala156Val)
NM_000308.4(CTSA):c.484C>T (p.Arg162Cys)
NM_000308.4(CTSA):c.535T>C (p.Tyr179His)
NM_000308.4(CTSA):c.553C>A (p.Pro185Thr)
NM_000308.4(CTSA):c.565G>A (p.Val189Met)
NM_000308.4(CTSA):c.574A>C (p.Met192Leu) rs1987042851
NM_000308.4(CTSA):c.594C>A (p.Asn198Lys) rs147908449
NM_000308.4(CTSA):c.632A>T (p.Tyr211Phe)
NM_000308.4(CTSA):c.736T>C (p.Cys246Arg) rs1177744429
NM_000308.4(CTSA):c.753C>A (p.Asn251Lys)
NM_000308.4(CTSA):c.755A>G (p.Lys252Arg) rs1412365614
NM_000308.4(CTSA):c.768C>A (p.Cys256Ter) rs767712946
NM_000308.4(CTSA):c.772A>G (p.Thr258Ala)
NM_000308.4(CTSA):c.799G>A (p.Val267Met) rs1327727683
NM_000308.4(CTSA):c.830T>C (p.Leu277Pro) rs1987145050
NM_000308.4(CTSA):c.847G>A (p.Gly283Arg)
NM_000308.4(CTSA):c.848G>C (p.Gly283Ala)
NM_000308.4(CTSA):c.874G>C (p.Glu292Gln) rs771968194
NM_000308.4(CTSA):c.892G>T (p.Val298Phe)
NM_000308.4(CTSA):c.911T>C (p.Ile304Thr)
NM_000308.4(CTSA):c.919C>T (p.Arg307Cys) rs2145819152
NM_000308.4(CTSA):c.931A>C (p.Lys311Gln)
NM_000308.4(CTSA):c.935G>A (p.Arg312Gln)
NM_000308.4(CTSA):c.948G>A (p.Gln316=) rs2145819241
NM_000308.4(CTSA):c.967G>A (p.Asp323Asn)
NM_000308.4(CTSA):c.985C>A (p.Pro329Thr) rs746428492
NM_000308.4(CTSA):c.985C>G (p.Pro329Ala) rs746428492

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