ClinVar Miner

List of variants in gene MMAA

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Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 169
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HGVS dbSNP
MMAA, 8-BP INS, NT260
NM_172250.3(MMAA):c.*1227A>T rs375194713
NM_172250.3(MMAA):c.*1284G>A rs564976817
NM_172250.3(MMAA):c.*1584A>G rs530538534
NM_172250.3(MMAA):c.*1610C>T rs185925141
NM_172250.3(MMAA):c.*1779T>C rs886059097
NM_172250.3(MMAA):c.*177A>G rs572996882
NM_172250.3(MMAA):c.*1782A>G rs114134771
NM_172250.3(MMAA):c.*1838G>A rs886059098
NM_172250.3(MMAA):c.*188A>G rs886059091
NM_172250.3(MMAA):c.*1897_*1901del rs377206435
NM_172250.3(MMAA):c.*1918G>A rs755382235
NM_172250.3(MMAA):c.*1924T>C rs886059100
NM_172250.3(MMAA):c.*192G>A rs188845060
NM_172250.3(MMAA):c.*1952T>C rs79927727
NM_172250.3(MMAA):c.*1952dup rs150630369
NM_172250.3(MMAA):c.*1988A>T rs141116337
NM_172250.3(MMAA):c.*2019A>G rs886059102
NM_172250.3(MMAA):c.*2142T>C rs72723824
NM_172250.3(MMAA):c.*229T>C rs886059092
NM_172250.3(MMAA):c.*2343A>G rs886059103
NM_172250.3(MMAA):c.*2364A>G rs13129907
NM_172250.3(MMAA):c.*2372T>A rs74719174
NM_172250.3(MMAA):c.*2378A>G rs886059104
NM_172250.3(MMAA):c.*2445A>C rs886059105
NM_172250.3(MMAA):c.*2471G>A rs886059106
NM_172250.3(MMAA):c.*2479G>A rs886059107
NM_172250.3(MMAA):c.*2608T>C rs7699187
NM_172250.3(MMAA):c.*2617C>A rs886059108
NM_172250.3(MMAA):c.*2622_*2625del rs60186480
NM_172250.3(MMAA):c.*2627A>G rs886059109
NM_172250.3(MMAA):c.*2658G>A rs72723825
NM_172250.3(MMAA):c.*2768A>T rs7699166
NM_172250.3(MMAA):c.*2807C>T rs7675466
NM_172250.3(MMAA):c.*2808G>A rs543019315
NM_172250.3(MMAA):c.*2866A>G rs17020500
NM_172250.3(MMAA):c.*2903C>T rs886059110
NM_172250.3(MMAA):c.*3035A>C rs576544645
NM_172250.3(MMAA):c.*306T>A rs74409983
NM_172250.3(MMAA):c.*3125C>T rs886059111
NM_172250.3(MMAA):c.*3222T>C rs886059112
NM_172250.3(MMAA):c.*3254A>C rs539831571
NM_172250.3(MMAA):c.*3257del rs886059113
NM_172250.3(MMAA):c.*3274del rs33978754
NM_172250.3(MMAA):c.*3285G>A rs142885287
NM_172250.3(MMAA):c.*3356del rs577478683
NM_172250.3(MMAA):c.*342A>G rs886059093
NM_172250.3(MMAA):c.*3621G>A rs55770806
NM_172250.3(MMAA):c.*3801A>G rs886059116
NM_172250.3(MMAA):c.*3824C>A rs72950842
NM_172250.3(MMAA):c.*4103G>A rs191381122
NM_172250.3(MMAA):c.*4119del rs200143270
NM_172250.3(MMAA):c.*4228T>C rs533826043
NM_172250.3(MMAA):c.*4336A>G rs138752110
NM_172250.3(MMAA):c.*434C>T rs72950841
NM_172250.3(MMAA):c.*4533C>T rs114762906
NM_172250.3(MMAA):c.*540A>T rs886059094
NM_172250.3(MMAA):c.*541A>G rs114729477
NM_172250.3(MMAA):c.*589C>G rs886059095
NM_172250.3(MMAA):c.*600G>A rs112882351
NM_172250.3(MMAA):c.*67G>A rs886059090
NM_172250.3(MMAA):c.*703C>T rs548243828
NM_172250.3(MMAA):c.*890G>A rs771012374
NM_172250.3(MMAA):c.*942A>G rs886059096
NM_172250.3(MMAA):c.-35A>T rs150259804
NM_172250.3(MMAA):c.-56A>G rs4835011
NM_172250.3(MMAA):c.-66+10G>C rs546775043
NM_172250.3(MMAA):c.-68C>T rs886059087
NM_172250.3(MMAA):c.-69G>T rs886059086
NM_172250.3(MMAA):c.-71G>C rs992491091
NM_172250.3(MMAA):c.1025T>G (p.Met342Arg) rs869320657
NM_172250.3(MMAA):c.1034del (p.Phe345fs) rs398124552
NM_172250.3(MMAA):c.1060_1065del (p.Glu354_Leu355del) rs1553959122
NM_172250.3(MMAA):c.1075C>G (p.Arg359Gly) rs999844958
NM_172250.3(MMAA):c.1075C>T (p.Arg359Ter) rs999844958
NM_172250.3(MMAA):c.1076G>A (p.Arg359Gln) rs864309731
NM_172250.3(MMAA):c.1078C>T (p.Arg360Trp) rs6812252
NM_172250.3(MMAA):c.1084C>T (p.Gln362Ter) rs1560802980
NM_172250.3(MMAA):c.1089G>C (p.Gln363His) rs2270655
NM_172250.3(MMAA):c.1104G>A (p.Trp368Ter) rs1131692023
NM_172250.3(MMAA):c.1114del (p.Gln372fs) rs765726949
NM_172250.3(MMAA):c.1121G>A (p.Ser374Asn) rs778178659
NM_172250.3(MMAA):c.1142C>T (p.Thr381Ile) rs1057520160
NM_172250.3(MMAA):c.1177G>A (p.Glu393Lys) rs144313458
NM_172250.3(MMAA):c.1193T>C (p.Ile398Thr) rs777459994
NM_172250.3(MMAA):c.1196_1197delinsTT (p.Gly399Val) rs1553959152
NM_172250.3(MMAA):c.1236A>G (p.Lys412=) rs184111056
NM_172250.3(MMAA):c.124C>G (p.Gln42Glu) rs758345818
NM_172250.3(MMAA):c.124C>T (p.Gln42Ter) rs758345818
NM_172250.3(MMAA):c.128C>T (p.Pro43Leu) rs886059088
NM_172250.3(MMAA):c.137_138CT[1] (p.Leu47fs) rs1560795828
NM_172250.3(MMAA):c.138T>C (p.Ser46=) rs34702224
NM_172250.3(MMAA):c.15_16del (p.Pro6fs) rs1553957862
NM_172250.3(MMAA):c.161G>A (p.Trp54Ter) rs864309725
NM_172250.3(MMAA):c.175G>C (p.Asp59His)
NM_172250.3(MMAA):c.1A>G (p.Met1Val) rs1553957856
NM_172250.3(MMAA):c.202C>T (p.Gln68Ter) rs754894257
NM_172250.3(MMAA):c.206del (p.Thr69fs) rs1553957901
NM_172250.3(MMAA):c.266T>C (p.Leu89Pro) rs864309726
NM_172250.3(MMAA):c.267_268del (p.Thr91fs) rs1553957906
NM_172250.3(MMAA):c.283C>T (p.Gln95Ter) rs104893846
NM_172250.3(MMAA):c.290_296del (p.Gln97fs) rs1553957907
NM_172250.3(MMAA):c.295G>A (p.Ala99Thr) rs1553957915
NM_172250.3(MMAA):c.298_312del (p.Cys100_Ala104del) rs780082584
NM_172250.3(MMAA):c.304G>A (p.Ala102Thr) rs1328584680
NM_172250.3(MMAA):c.334C>T (p.His112Tyr) rs886043838
NM_172250.3(MMAA):c.358C>T (p.Gln120Ter) rs864309727
NM_172250.3(MMAA):c.370C>T (p.Gln124Ter) rs796064514
NM_172250.3(MMAA):c.383T>C (p.Leu128Pro) rs560188002
NM_172250.3(MMAA):c.387C>A (p.Tyr129Ter) rs796051992
NM_172250.3(MMAA):c.397C>T (p.Gln133Ter) rs754545360
NM_172250.3(MMAA):c.411_414del (p.Asn137fs) rs1553957931
NM_172250.3(MMAA):c.433C>T (p.Arg145Ter) rs104893851
NM_172250.3(MMAA):c.439+1G>A rs1553957938
NM_172250.3(MMAA):c.439+4_439+7del rs1553957939
NM_172250.3(MMAA):c.441dup (p.Leu148fs) rs1553958126
NM_172250.3(MMAA):c.450dup (p.Pro151fs) rs754973022
NM_172250.3(MMAA):c.455del (p.Pro152fs) rs1553958127
NM_172250.3(MMAA):c.489del (p.Phe163fs) rs1553958143
NM_172250.3(MMAA):c.494A>G (p.Lys165Arg) rs199809221
NM_172250.3(MMAA):c.503del (p.Thr168fs) rs864309728
NM_172250.3(MMAA):c.508_509insAGG (p.Arg170delinsLysGly) rs1553958153
NM_172250.3(MMAA):c.525_526TG[1] (p.Val176fs) rs1553958158
NM_172250.3(MMAA):c.551dup (p.Cys184fs) rs1553958159
NM_172250.3(MMAA):c.562+1G>A rs869320656
NM_172250.3(MMAA):c.562+1G>T rs869320656
NM_172250.3(MMAA):c.562G>C (p.Gly188Arg) rs864309729
NM_172250.3(MMAA):c.575G>A (p.Gly192Asp) rs1553958392
NM_172250.3(MMAA):c.586C>T (p.Arg196Ter) rs1029096863
NM_172250.3(MMAA):c.587G>A (p.Arg196Gln) rs144389160
NM_172250.3(MMAA):c.593_596del (p.Thr198fs) rs796051993
NM_172250.3(MMAA):c.594dup (p.Glu199Ter) rs1553958395
NM_172250.3(MMAA):c.597G>A (p.Glu199=) rs116773849
NM_172250.3(MMAA):c.620A>G (p.Tyr207Cys) rs104893849
NM_172250.3(MMAA):c.630A>G (p.Pro210=) rs374347679
NM_172250.3(MMAA):c.64C>T (p.Arg22Ter) rs765799472
NM_172250.3(MMAA):c.650T>A (p.Leu217Ter) rs140356252
NM_172250.3(MMAA):c.651dup (p.Gly218fs) rs1314623572
NM_172250.3(MMAA):c.653G>A (p.Gly218Glu) rs864309730
NM_172250.3(MMAA):c.658G>A (p.Val220Met) rs150376474
NM_172250.3(MMAA):c.664A>G (p.Arg222Gly) rs920825350
NM_172250.3(MMAA):c.701C>T (p.Ala234Val) rs367609164
NM_172250.3(MMAA):c.721A>T (p.Ile241Phe) rs756221585
NM_172250.3(MMAA):c.728C>A (p.Thr243Asn) rs1553958417
NM_172250.3(MMAA):c.729C>T (p.Thr243=) rs138111772
NM_172250.3(MMAA):c.72C>A (p.Tyr24Ter) rs1553957883
NM_172250.3(MMAA):c.733+13T>C rs768662983
NM_172250.3(MMAA):c.733+1G>A rs779939886
NM_172250.3(MMAA):c.733+276T>G
NM_172250.3(MMAA):c.742C>T (p.Gln248Ter) rs757548934
NM_172250.3(MMAA):c.747G>A (p.Ser249=) rs11721553
NM_172250.3(MMAA):c.800C>T (p.Ala267Val) rs138854691
NM_172250.3(MMAA):c.812_813dup (p.Leu272fs) rs1553958720
NM_172250.3(MMAA):c.820-169T>C
NM_172250.3(MMAA):c.820-1G>A rs1553959017
NM_172250.3(MMAA):c.829dup (p.Arg277fs) rs774958165
NM_172250.3(MMAA):c.833G>A (p.Gly278Asp) rs761964238
NM_172250.3(MMAA):c.860C>A (p.Ala287Asp) rs1553959024
NM_172250.3(MMAA):c.862G>A (p.Val288Ile) rs886059089
NM_172250.3(MMAA):c.875A>T (p.Asp292Val) rs1553959025
NM_172250.3(MMAA):c.904A>T (p.Ile302Leu) rs369128670
NM_172250.3(MMAA):c.912G>A (p.Ala304=) rs371769807
NM_172250.3(MMAA):c.952C>T (p.Gln318Ter) rs751717131
NM_172250.3(MMAA):c.970-2A>T rs1553959113
NM_172250.3(MMAA):c.970-5G>A rs370814663
NM_172250.3(MMAA):c.970-6C>T rs774402841
NM_172250.3(MMAA):c.977G>A (p.Arg326His) rs201547892
NM_172250.3(MMAA):c.988C>T (p.Arg330Ter) rs571038432
NM_172250.3(MMAA):c.989G>A (p.Arg330Gln)

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