ClinVar Miner

List of variants in gene CTNNA1 studied for patterned macular dystrophy

Included ClinVar conditions (4):
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Gene type:
ClinVar version:
Total variants: 123
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HGVS dbSNP gnomAD frequency
NM_001903.5(CTNNA1):c.2220G>A (p.Ser740=) rs1059110 0.32259
NM_001903.5(CTNNA1):c.2226C>G (p.Val742=) rs11552052 0.02031
NM_001903.5(CTNNA1):c.618G>C (p.Gln206His) rs150893072 0.00414
NM_001903.5(CTNNA1):c.655C>T (p.Pro219Ser) rs28363406 0.00259
NM_001903.5(CTNNA1):c.301+20T>G rs201543087 0.00098
NM_001903.5(CTNNA1):c.1899+18A>G rs562041100 0.00058
NM_001903.5(CTNNA1):c.1782C>T (p.Ala594=) rs142503438 0.00044
NM_001903.5(CTNNA1):c.1193A>G (p.Asn398Ser) rs200549409 0.00020
NM_001903.5(CTNNA1):c.730A>T (p.Ile244Leu) rs371337206 0.00014
NM_001903.5(CTNNA1):c.1070G>A (p.Arg357His) rs192686066 0.00011
NM_001903.5(CTNNA1):c.2504C>T (p.Ala835Val) rs377477287 0.00009
NM_001903.5(CTNNA1):c.370A>G (p.Met124Val) rs765587517 0.00009
NM_001903.5(CTNNA1):c.503G>A (p.Gly168Asp) rs139770883 0.00009
NM_001903.5(CTNNA1):c.733T>C (p.Tyr245His) rs757481572 0.00009
NM_001903.5(CTNNA1):c.293G>A (p.Arg98Gln) rs746832628 0.00008
NM_001903.5(CTNNA1):c.1352G>A (p.Arg451Gln) rs773756164 0.00007
NM_001903.5(CTNNA1):c.1304A>G (p.Asn435Ser) rs752913534 0.00006
NM_001903.5(CTNNA1):c.2714G>A (p.Ser905Asn) rs756360361 0.00006
NM_001903.5(CTNNA1):c.2493G>C (p.Gln831His) rs781450977 0.00005
NM_001903.5(CTNNA1):c.1385C>T (p.Pro462Leu) rs977288078 0.00004
NM_001903.5(CTNNA1):c.2558A>G (p.Asn853Ser) rs199994641 0.00004
NM_001903.5(CTNNA1):c.637A>G (p.Ile213Val) rs201391408 0.00004
NM_001903.5(CTNNA1):c.1192A>G (p.Asn398Asp) rs773003463 0.00003
NM_001903.5(CTNNA1):c.1486C>T (p.Arg496Cys) rs754789006 0.00003
NM_001903.5(CTNNA1):c.1742A>G (p.Asn581Ser) rs139134468 0.00003
NM_001903.5(CTNNA1):c.1799C>T (p.Ser600Leu) rs761567176 0.00003
NM_001903.5(CTNNA1):c.409C>T (p.Arg137Trp) rs781124226 0.00003
NM_001903.5(CTNNA1):c.430A>G (p.Met144Val) rs748930609 0.00003
NM_001903.5(CTNNA1):c.505A>G (p.Asn169Asp) rs778667305 0.00003
NM_001903.5(CTNNA1):c.1135C>T (p.Arg379Cys) rs773022966 0.00002
NM_001903.5(CTNNA1):c.1207G>A (p.Val403Ile) rs760179421 0.00002
NM_001903.5(CTNNA1):c.161G>A (p.Arg54His) rs746153198 0.00002
NM_001903.5(CTNNA1):c.1942T>G (p.Phe648Val) rs139529481 0.00002
NM_001903.5(CTNNA1):c.410G>A (p.Arg137Gln) rs374142395 0.00002
NM_001903.5(CTNNA1):c.839A>G (p.Tyr280Cys) rs1427235870 0.00002
NM_001903.5(CTNNA1):c.1069C>T (p.Arg357Cys) rs758561244 0.00001
NM_001903.5(CTNNA1):c.1102A>G (p.Ile368Val) rs1354521948 0.00001
NM_001903.5(CTNNA1):c.1147C>T (p.Arg383Cys) rs779064875 0.00001
NM_001903.5(CTNNA1):c.1185G>A (p.Leu395=) rs748186935 0.00001
NM_001903.5(CTNNA1):c.1271G>A (p.Arg424His) rs1424890664 0.00001
NM_001903.5(CTNNA1):c.1291A>G (p.Ile431Val) rs754174029 0.00001
NM_001903.5(CTNNA1):c.1313G>A (p.Cys438Tyr) rs747066634 0.00001
NM_001903.5(CTNNA1):c.1396A>G (p.Asn466Asp) rs764267687 0.00001
NM_001903.5(CTNNA1):c.1450A>G (p.Met484Val) rs750470900 0.00001
NM_001903.5(CTNNA1):c.1469A>T (p.Gln490Leu) rs780099178 0.00001
NM_001903.5(CTNNA1):c.1618C>T (p.Arg540Cys) rs1203968888 0.00001
NM_001903.5(CTNNA1):c.1619G>A (p.Arg540His) rs139655691 0.00001
NM_001903.5(CTNNA1):c.1663G>A (p.Val555Ile) rs201877485 0.00001
NM_001903.5(CTNNA1):c.173C>T (p.Ala58Val) rs780078260 0.00001
NM_001903.5(CTNNA1):c.1756C>T (p.Arg586Cys) rs1296205201 0.00001
NM_001903.5(CTNNA1):c.1965C>T (p.Ser655=) rs760486358 0.00001
NM_001903.5(CTNNA1):c.201A>C (p.Gln67His) rs369216126 0.00001
NM_001903.5(CTNNA1):c.202G>A (p.Ala68Thr) rs766078636 0.00001
NM_001903.5(CTNNA1):c.2191C>T (p.Arg731Ter) rs1401839892 0.00001
NM_001903.5(CTNNA1):c.2242A>C (p.Lys748Gln) rs1254765947 0.00001
NM_001903.5(CTNNA1):c.2442C>T (p.Ser814=) rs143248909 0.00001
NM_001903.5(CTNNA1):c.2665A>C (p.Lys889Gln) rs1766015674 0.00001
NM_001903.5(CTNNA1):c.339T>A (p.Asp113Glu) rs773771416 0.00001
NM_001903.5(CTNNA1):c.347G>A (p.Cys116Tyr) rs761084210 0.00001
NM_001903.5(CTNNA1):c.362G>A (p.Arg121Gln) rs749878552 0.00001
NM_001903.5(CTNNA1):c.446A>C (p.Lys149Thr) rs1015730449 0.00001
NM_001903.5(CTNNA1):c.479G>A (p.Gly160Asp) rs1415757253 0.00001
NM_001903.5(CTNNA1):c.571G>A (p.Ala191Thr) rs1378674814 0.00001
NM_001903.5(CTNNA1):c.607C>T (p.His203Tyr) rs1060502218 0.00001
NM_001903.5(CTNNA1):c.613G>A (p.Asp205Asn) rs1250763367 0.00001
NM_001903.5(CTNNA1):c.710A>G (p.Tyr237Cys) rs751967797 0.00001
NM_001903.5(CTNNA1):c.779A>G (p.Gln260Arg) rs1043277546 0.00001
NM_001903.5(CTNNA1):c.923G>A (p.Arg308His) rs376445678 0.00001
NM_001903.5(CTNNA1):c.986G>A (p.Arg329His) rs373717420 0.00001
NM_001290310.3(CTNNA1):c.-5-62_-5-49del
NM_001903.5(CTNNA1):c.105+1G>C rs374313094
NM_001903.5(CTNNA1):c.1062+4A>G
NM_001903.5(CTNNA1):c.1086T>G (p.Asp362Glu) rs1294061925
NM_001903.5(CTNNA1):c.1107T>G (p.Asp369Glu) rs1581474221
NM_001903.5(CTNNA1):c.1135C>G (p.Arg379Gly) rs773022966
NM_001903.5(CTNNA1):c.1293T>G (p.Ile431Met) rs755215402
NM_001903.5(CTNNA1):c.1318A>G (p.Ile440Val) rs368676572
NM_001903.5(CTNNA1):c.1322C>T (p.Ser441Leu)
NM_001903.5(CTNNA1):c.1351C>T (p.Arg451Ter) rs201498915
NM_001903.5(CTNNA1):c.1361C>A (p.Ala454Glu) rs777109167
NM_001903.5(CTNNA1):c.1401T>A (p.Ala467=) rs1762093946
NM_001903.5(CTNNA1):c.1480C>A (p.Gln494Lys) rs1356240181
NM_001903.5(CTNNA1):c.1480C>T (p.Gln494Ter)
NM_001903.5(CTNNA1):c.1540G>A (p.Val514Ile) rs1762137635
NM_001903.5(CTNNA1):c.1571del (p.Asn524fs)
NM_001903.5(CTNNA1):c.1726A>G (p.Thr576Ala) rs1580855958
NM_001903.5(CTNNA1):c.1839T>A (p.Asp613Glu) rs1763786362
NM_001903.5(CTNNA1):c.1943T>A (p.Phe648Tyr)
NM_001903.5(CTNNA1):c.2023C>T (p.Gln675Ter) rs1580907792
NM_001903.5(CTNNA1):c.2231G>A (p.Ser744Asn)
NM_001903.5(CTNNA1):c.2433+4A>G
NM_001903.5(CTNNA1):c.2512G>A (p.Val838Ile) rs1054245968
NM_001903.5(CTNNA1):c.2554C>T (p.Leu852Phe) rs1580945247
NM_001903.5(CTNNA1):c.2630A>G (p.Glu877Gly) rs1766006139
NM_001903.5(CTNNA1):c.2651G>A (p.Arg884Gln)
NM_001903.5(CTNNA1):c.2662AAG[1] (p.Lys889del)
NM_001903.5(CTNNA1):c.284A>C (p.Glu95Ala) rs1755342562
NM_001903.5(CTNNA1):c.302-2_302-1del
NM_001903.5(CTNNA1):c.350C>G (p.Ser117Cys) rs766845544
NM_001903.5(CTNNA1):c.376C>T (p.Arg126Trp) rs1581105656
NM_001903.5(CTNNA1):c.377G>A (p.Arg126Gln) rs371054484
NM_001903.5(CTNNA1):c.406dup (p.Thr136fs) rs1581105774
NM_001903.5(CTNNA1):c.479G>T (p.Gly160Val) rs1415757253
NM_001903.5(CTNNA1):c.47A>G (p.Lys16Arg)
NM_001903.5(CTNNA1):c.495G>T (p.Arg165Ser) rs1758892317
NM_001903.5(CTNNA1):c.53T>C (p.Leu18Pro) rs769832131
NM_001903.5(CTNNA1):c.588+19G>T
NM_001903.5(CTNNA1):c.588+4_588+5del rs147724289
NM_001903.5(CTNNA1):c.662T>G (p.Leu221Arg)
NM_001903.5(CTNNA1):c.728_731dup (p.Tyr245fs)
NM_001903.5(CTNNA1):c.733_736del (p.Tyr245fs)
NM_001903.5(CTNNA1):c.734A>G (p.Tyr245Cys) rs1581167854
NM_001903.5(CTNNA1):c.793G>T (p.Asp265Tyr) rs1760467219
NM_001903.5(CTNNA1):c.812A>G (p.Gln271Arg)
NM_001903.5(CTNNA1):c.818GAG[3] (p.Gly276del) rs758909445
NM_001903.5(CTNNA1):c.848A>G (p.Asn283Ser) rs750584026
NM_001903.5(CTNNA1):c.864A>C (p.Gln288His)
NM_001903.5(CTNNA1):c.896A>G (p.Glu299Gly) rs1760845926
NM_001903.5(CTNNA1):c.919G>A (p.Glu307Lys) rs869320697
NM_001903.5(CTNNA1):c.930_949del (p.Glu310fs)
NM_001903.5(CTNNA1):c.953T>C (p.Leu318Ser) rs869320696
NM_001903.5(CTNNA1):c.965C>T (p.Ser322Leu) rs1554085478
NM_001903.5(CTNNA1):c.988C>T (p.Arg330Cys)

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