ClinVar Miner

List of variants in gene A2ML1 reported by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 249
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HGVS dbSNP gnomAD frequency
NM_144670.6(A2ML1):c.2367G>A (p.Pro789=) rs1860927 0.81108
NM_144670.6(A2ML1):c.3769A>G (p.Met1257Val) rs7308811 0.78244
NM_144670.6(A2ML1):c.4020A>G (p.Gln1340=) rs1476910 0.71936
NM_144670.6(A2ML1):c.3364C>T (p.Arg1122Trp) rs1860967 0.33038
NM_144670.6(A2ML1):c.1476+9G>A rs7136813 0.32464
NM_144670.6(A2ML1):c.3237G>A (p.Val1079=) rs11612600 0.29274
NM_144670.6(A2ML1):c.2909G>A (p.Cys970Tyr) rs1558526 0.17216
NM_144670.6(A2ML1):c.3843T>C (p.Val1281=) rs61749073 0.10820
NM_144670.6(A2ML1):c.1275A>G (p.Val425=) rs7308106 0.06706
NM_144670.6(A2ML1):c.3569C>T (p.Ala1190Val) rs73040625 0.05426
NM_144670.6(A2ML1):c.186C>T (p.Thr62=) rs17792974 0.04826
NM_144670.6(A2ML1):c.2868C>T (p.Ala956=) rs56179521 0.03852
NM_144670.6(A2ML1):c.3676_3677del (p.Ala1226fs) rs144686314 0.03504
NM_144670.6(A2ML1):c.2550= (p.Asp850=) rs1860926 0.03420
NM_144670.6(A2ML1):c.463-9C>G rs11047493 0.02873
NM_144670.6(A2ML1):c.1109T>C (p.Phe370Ser) rs61744220 0.02860
NM_144670.6(A2ML1):c.1101T>C (p.Asp367=) rs61744222 0.02500
NM_144670.6(A2ML1):c.4234A>G (p.Thr1412Ala) rs7315591 0.02333
NM_144670.6(A2ML1):c.1444_1445del (p.Ser482fs) rs143864957 0.01780
NM_144670.6(A2ML1):c.3380C>T (p.Ser1127Leu) rs61749078 0.01369
NM_144670.6(A2ML1):c.3392C>T (p.Thr1131Met) rs7959680 0.01340
NM_144670.6(A2ML1):c.3272T>C (p.Val1091Ala) rs61736726 0.01323
NM_144670.6(A2ML1):c.1686T>G (p.Val562=) rs12296765 0.01152
NM_144670.6(A2ML1):c.4325-18A>T rs113456917 0.01045
NM_144670.6(A2ML1):c.2252C>T (p.Ala751Val) rs61741216 0.00991
NM_144670.6(A2ML1):c.590C>T (p.Thr197Ile) rs61734941 0.00911
NM_144670.6(A2ML1):c.2295G>A (p.Ala765=) rs79067860 0.00866
NM_144670.6(A2ML1):c.3108-3dup rs142794811 0.00828
NM_144670.6(A2ML1):c.3686= (p.His1229=) rs10219561 0.00725
NM_144670.6(A2ML1):c.483+7G>A rs73037000 0.00640
NM_144670.6(A2ML1):c.3880G>A (p.Val1294Ile) rs61746590 0.00552
NM_144670.6(A2ML1):c.633G>A (p.Val211=) rs79151946 0.00549
NM_144670.6(A2ML1):c.3252C>T (p.His1084=) rs61745125 0.00490
NM_144670.6(A2ML1):c.3550A>T (p.Ser1184Cys) rs143603619 0.00419
NM_144670.6(A2ML1):c.*1+12G>A rs115808815 0.00398
NM_144670.6(A2ML1):c.462+18G>A rs114265494 0.00352
NM_144670.6(A2ML1):c.3789C>G (p.Asn1263Lys) rs144876785 0.00327
NM_144670.6(A2ML1):c.2032G>T (p.Val678Leu) rs148198269 0.00280
NM_144670.6(A2ML1):c.1050T>C (p.Phe350=) rs201247776 0.00256
NM_144670.6(A2ML1):c.863A>G (p.Lys288Arg) rs75617691 0.00252
NM_144670.6(A2ML1):c.1745A>G (p.Gln582Arg) rs200271507 0.00225
NM_144670.6(A2ML1):c.2029-5A>C rs145965024 0.00216
NM_144670.6(A2ML1):c.2713-8C>A rs184386564 0.00216
NM_144670.6(A2ML1):c.621T>C (p.Gly207=) rs145494834 0.00210
NM_144670.6(A2ML1):c.158C>G (p.Thr53Arg) rs79149293 0.00207
NM_144670.6(A2ML1):c.9T>A (p.Ala3=) rs151044194 0.00177
NM_144670.6(A2ML1):c.196C>T (p.Leu66=) rs185519272 0.00172
NM_144670.6(A2ML1):c.1937T>C (p.Ile646Thr) rs150488553 0.00158
NM_144670.6(A2ML1):c.3903G>C (p.Glu1301Asp) rs77431272 0.00138
NM_144670.6(A2ML1):c.2560C>T (p.His854Tyr) rs200763256 0.00126
NM_144670.6(A2ML1):c.2173G>A (p.Glu725Lys) rs192221816 0.00123
NM_144670.6(A2ML1):c.2463+13G>C rs151032368 0.00123
NM_144670.6(A2ML1):c.4061+1G>A rs202067416 0.00108
NM_144670.6(A2ML1):c.200A>T (p.Glu67Val) rs190479708 0.00101
NM_144670.6(A2ML1):c.2249A>C (p.Glu750Ala) rs200618482 0.00080
NM_144670.6(A2ML1):c.3269G>A (p.Gly1090Asp) rs200964353 0.00080
NM_144670.6(A2ML1):c.2764+12C>G rs372457078 0.00077
NM_144670.6(A2ML1):c.2234+16A>G rs560345386 0.00072
NM_144670.6(A2ML1):c.2027G>A (p.Arg676Gln) rs138301233 0.00070
NM_144670.6(A2ML1):c.2243G>A (p.Gly748Glu) rs74582459 0.00063
NM_144670.6(A2ML1):c.3878A>G (p.Asn1293Ser) rs201478459 0.00061
NM_144670.6(A2ML1):c.2924T>C (p.Met975Thr) rs202179061 0.00056
NM_144670.6(A2ML1):c.174_175dup (p.Lys59fs) rs745711489 0.00051
NM_144670.6(A2ML1):c.2197T>C (p.Phe733Leu) rs117213221 0.00051
NM_144670.6(A2ML1):c.2029-8C>T rs7298954 0.00048
NM_144670.6(A2ML1):c.1237G>A (p.Val413Ile) rs185181365 0.00047
NM_144670.6(A2ML1):c.105C>T (p.Ser35=) rs201185025 0.00046
NM_144670.6(A2ML1):c.2749T>C (p.Leu917=) rs200462659 0.00044
NM_144670.6(A2ML1):c.911T>C (p.Ile304Thr) rs184575465 0.00042
NM_144670.6(A2ML1):c.3003G>A (p.Arg1001=) rs200269317 0.00041
NM_144670.6(A2ML1):c.4076G>A (p.Arg1359His) rs200744656 0.00041
NM_144670.6(A2ML1):c.1780G>A (p.Val594Met) rs201527641 0.00038
NM_144670.6(A2ML1):c.357G>C (p.Gly119=) rs200671971 0.00036
NM_144670.6(A2ML1):c.4233C>T (p.Asn1411=) rs371033800 0.00036
NM_144670.6(A2ML1):c.63-4A>G rs200007710 0.00036
NM_144670.6(A2ML1):c.2841G>A (p.Thr947=) rs201562692 0.00029
NM_144670.6(A2ML1):c.3502+11C>T rs138636296 0.00029
NM_144670.6(A2ML1):c.1602G>C (p.Leu534=) rs146213855 0.00028
NM_144670.6(A2ML1):c.2026C>T (p.Arg676Trp) rs200503836 0.00026
NM_144670.6(A2ML1):c.2395T>G (p.Ser799Ala) rs374408168 0.00026
NM_144670.6(A2ML1):c.814C>T (p.Arg272Trp) rs201215628 0.00026
NM_144670.6(A2ML1):c.728+13G>A rs373095814 0.00025
NM_144670.6(A2ML1):c.1477T>C (p.Leu493=) rs200088686 0.00023
NM_144670.6(A2ML1):c.4018C>A (p.Gln1340Lys) rs182743597 0.00023
NM_144670.6(A2ML1):c.1328G>A (p.Arg443Gln) rs142219499 0.00022
NM_144670.6(A2ML1):c.2404C>T (p.Arg802Cys) rs367937691 0.00021
NM_144670.6(A2ML1):c.68A>G (p.Tyr23Cys) rs750524549 0.00019
NM_144670.6(A2ML1):c.1368C>T (p.His456=) rs200983183 0.00018
NM_144670.6(A2ML1):c.1433C>T (p.Pro478Leu) rs201762847 0.00017
NM_144670.6(A2ML1):c.2590+19A>G rs368826484 0.00016
NM_144670.6(A2ML1):c.3824C>T (p.Thr1275Ile) rs368114048 0.00016
NM_144670.6(A2ML1):c.565C>T (p.Pro189Ser) rs780009431 0.00015
NM_144670.6(A2ML1):c.1856G>C (p.Trp619Ser) rs369180298 0.00014
NM_144670.6(A2ML1):c.277G>T (p.Val93Leu) rs775011475 0.00014
NM_144670.6(A2ML1):c.2405G>A (p.Arg802His) rs201562272 0.00013
NM_144670.6(A2ML1):c.2840C>T (p.Thr947Met) rs199873022 0.00013
NM_144670.6(A2ML1):c.2773G>A (p.Ala925Thr) rs201363860 0.00011
NM_144670.6(A2ML1):c.2234+10G>A rs753021676 0.00009
NM_144670.6(A2ML1):c.2677C>T (p.Arg893Ter) rs199651558 0.00009
NM_144670.6(A2ML1):c.4261C>T (p.Gln1421Ter) rs182070540 0.00009
NM_144670.6(A2ML1):c.855+9A>G rs200524501 0.00009
NM_144670.6(A2ML1):c.2328C>T (p.Phe776=) rs368663740 0.00008
NM_144670.6(A2ML1):c.1477-13T>C rs778863549 0.00007
NM_144670.6(A2ML1):c.1284G>A (p.Pro428=) rs753945399 0.00006
NM_144670.6(A2ML1):c.1595C>T (p.Pro532Leu) rs373823890 0.00006
NM_144670.6(A2ML1):c.1684-16C>T rs761750413 0.00006
NM_144670.6(A2ML1):c.1746G>A (p.Gln582=) rs767420128 0.00006
NM_144670.6(A2ML1):c.2441A>G (p.Asn814Ser) rs760788803 0.00006
NM_144670.6(A2ML1):c.3516C>T (p.Tyr1172=) rs747281942 0.00006
NM_144670.6(A2ML1):c.4061+11_4061+12del rs767089812 0.00006
NM_144670.6(A2ML1):c.418C>T (p.Arg140Cys) rs199919065 0.00006
NM_144670.6(A2ML1):c.973G>A (p.Val325Met) rs749156731 0.00006
NM_144670.6(A2ML1):c.1970G>A (p.Arg657His) rs372629661 0.00005
NM_144670.6(A2ML1):c.201A>G (p.Glu67=) rs371564965 0.00005
NM_144670.6(A2ML1):c.2984C>T (p.Thr995Met) rs755702632 0.00005
NM_144670.6(A2ML1):c.1081-2A>G rs377270924 0.00004
NM_144670.6(A2ML1):c.1378G>A (p.Gly460Ser) rs758716034 0.00004
NM_144670.6(A2ML1):c.1476+15C>T rs759159005 0.00004
NM_144670.6(A2ML1):c.1774C>T (p.Arg592Trp) rs748309907 0.00004
NM_144670.6(A2ML1):c.2114T>C (p.Met705Thr) rs748085779 0.00004
NM_144670.6(A2ML1):c.2259C>T (p.His753=) rs747555996 0.00004
NM_144670.6(A2ML1):c.2260G>A (p.Val754Ile) rs769726608 0.00004
NM_144670.6(A2ML1):c.2486C>T (p.Ser829Leu) rs758305694 0.00004
NM_144670.6(A2ML1):c.3154A>G (p.Ile1052Val) rs753161669 0.00004
NM_144670.6(A2ML1):c.375G>T (p.Gln125His) rs377484849 0.00004
NM_144670.6(A2ML1):c.3935C>T (p.Thr1312Met) rs201083574 0.00004
NM_144670.6(A2ML1):c.3962C>T (p.Pro1321Leu) rs190379856 0.00004
NM_144670.6(A2ML1):c.1387A>C (p.Lys463Gln) rs764536586 0.00003
NM_144670.6(A2ML1):c.1833+10T>C rs753086817 0.00003
NM_144670.6(A2ML1):c.21A>G (p.Leu7=) rs529431349 0.00003
NM_144670.6(A2ML1):c.2658G>A (p.Gly886=) rs762588799 0.00003
NM_144670.6(A2ML1):c.3339+20G>A rs758617412 0.00003
NM_144670.6(A2ML1):c.3343C>T (p.Pro1115Ser) rs372562512 0.00003
NM_144670.6(A2ML1):c.3384C>G (p.Ala1128=) rs773681065 0.00003
NM_144670.6(A2ML1):c.653A>G (p.Lys218Arg) rs1253780933 0.00003
NM_144670.6(A2ML1):c.1438G>A (p.Asp480Asn) rs368024371 0.00002
NM_144670.6(A2ML1):c.2010C>A (p.Asp670Glu) rs763091079 0.00002
NM_144670.6(A2ML1):c.2117G>A (p.Gly706Asp) rs772497821 0.00002
NM_144670.6(A2ML1):c.2276C>T (p.Ala759Val) rs774472456 0.00002
NM_144670.6(A2ML1):c.2310T>C (p.Thr770=) rs370481255 0.00002
NM_144670.6(A2ML1):c.269C>T (p.Thr90Ile) rs369174815 0.00002
NM_144670.6(A2ML1):c.2765-18T>A rs759540195 0.00002
NM_144670.6(A2ML1):c.3105A>G (p.Thr1035=) rs201335448 0.00002
NM_144670.6(A2ML1):c.3933+4A>G rs779680238 0.00002
NM_144670.6(A2ML1):c.409+1G>A rs1454374124 0.00002
NM_144670.6(A2ML1):c.881C>T (p.Ala294Val) rs775772721 0.00002
NM_144670.6(A2ML1):c.1231A>C (p.Thr411Pro) rs371576976 0.00001
NM_144670.6(A2ML1):c.1248+7A>G rs765019682 0.00001
NM_144670.6(A2ML1):c.1370G>A (p.Arg457Gln) rs765417831 0.00001
NM_144670.6(A2ML1):c.1538-13T>A rs765050311 0.00001
NM_144670.6(A2ML1):c.1683+6A>G rs370846070 0.00001
NM_144670.6(A2ML1):c.1704C>G (p.Pro568=) rs780752277 0.00001
NM_144670.6(A2ML1):c.1991C>T (p.Ser664Leu) rs187676229 0.00001
NM_144670.6(A2ML1):c.2238C>G (p.Asn746Lys) rs369633399 0.00001
NM_144670.6(A2ML1):c.2429C>A (p.Ala810Asp) rs778855832 0.00001
NM_144670.6(A2ML1):c.2458A>T (p.Ile820Phe) rs1435627448 0.00001
NM_144670.6(A2ML1):c.2676C>T (p.Gly892=) rs188045880 0.00001
NM_144670.6(A2ML1):c.2681G>A (p.Ser894Asn) rs754026014 0.00001
NM_144670.6(A2ML1):c.2712+12T>A rs774960083 0.00001
NM_144670.6(A2ML1):c.3264+5G>A rs200006435 0.00001
NM_144670.6(A2ML1):c.3495C>G (p.Ile1165Met) rs868320081 0.00001
NM_144670.6(A2ML1):c.3502+14G>C rs1277207408 0.00001
NM_144670.6(A2ML1):c.3933+14C>T rs200874703 0.00001
NM_144670.6(A2ML1):c.4221+17C>T rs772852256 0.00001
NM_144670.6(A2ML1):c.4221+2T>C rs959378735 0.00001
NM_144670.6(A2ML1):c.483+6C>T rs754169968 0.00001
NM_144670.6(A2ML1):c.540T>G (p.Ile180Met) rs377551636 0.00001
NM_144670.6(A2ML1):c.62C>T (p.Pro21Leu) rs771087097 0.00001
NM_144670.6(A2ML1):c.844C>A (p.Leu282Ile) rs1482427203 0.00001
NM_144670.6(A2ML1):c.906C>T (p.Asp302=) rs1943356243 0.00001
NM_144670.6(A2ML1):c.970+13C>T rs748203389 0.00001
NC_000012.11:g.(8998819_9000144)_(9007428_9008104)del
NM_144670.6(A2ML1):c.1021T>A (p.Ser341Thr) rs1277845851
NM_144670.6(A2ML1):c.1022C>A (p.Ser341Ter) rs1943384970
NM_144670.6(A2ML1):c.1219G>A (p.Gly407Ser) rs921912575
NM_144670.6(A2ML1):c.1248+10G>A
NM_144670.6(A2ML1):c.1249-19_1319dup rs1943546023
NM_144670.6(A2ML1):c.128_224dup (p.His75_Leu76insGluProTrpValGlnTer) rs1942804878
NM_144670.6(A2ML1):c.1298G>A (p.Arg433His) rs376035211
NM_144670.6(A2ML1):c.137G>A (p.Gly46Glu) rs757200771
NM_144670.6(A2ML1):c.1423T>A (p.Tyr475Asn)
NM_144670.6(A2ML1):c.1475A>G (p.Tyr492Cys) rs1943556876
NM_144670.6(A2ML1):c.1476+8C>G rs75676135
NM_144670.6(A2ML1):c.1476+8C>T rs75676135
NM_144670.6(A2ML1):c.1630G>A (p.Gly544Ser) rs1032646451
NM_144670.6(A2ML1):c.1656C>A (p.Phe552Leu)
NM_144670.6(A2ML1):c.1662C>T (p.Val554=)
NM_144670.6(A2ML1):c.1684-47_1724dup rs1943731808
NM_144670.6(A2ML1):c.1730T>G (p.Val577Gly) rs917780860
NM_144670.6(A2ML1):c.1750G>A (p.Ala584Thr) rs1943737655
NM_144670.6(A2ML1):c.1775G>A (p.Arg592Gln) rs200673370
NM_144670.6(A2ML1):c.1775G>T (p.Arg592Leu) rs200673370
NM_144670.6(A2ML1):c.1789_1790del (p.Ser597fs) rs779516620
NM_144670.6(A2ML1):c.1828C>G (p.Arg610Gly) rs375392265
NM_144670.6(A2ML1):c.1834-1G>T rs1943786459
NM_144670.6(A2ML1):c.1834-20_1887dup rs1943785430
NM_144670.6(A2ML1):c.1955G>A (p.Gly652Glu)
NM_144670.6(A2ML1):c.1992G>A (p.Ser664=) rs765976469
NM_144670.6(A2ML1):c.2032G>A (p.Val678Met) rs148198269
NM_144670.6(A2ML1):c.2145del (p.Phe715fs) rs759217676
NM_144670.6(A2ML1):c.2242G>A (p.Gly748Arg) rs2136878186
NM_144670.6(A2ML1):c.2257C>T (p.His753Tyr)
NM_144670.6(A2ML1):c.2366C>T (p.Pro789Leu) rs1943905141
NM_144670.6(A2ML1):c.2463+13G>A rs151032368
NM_144670.6(A2ML1):c.2707G>A (p.Val903Ile) rs1416944345
NM_144670.6(A2ML1):c.2716G>A (p.Glu906Lys)
NM_144670.6(A2ML1):c.2719_2720del (p.Gly907fs) rs560609581
NM_144670.6(A2ML1):c.2752C>A (p.Leu918Met) rs1944005605
NM_144670.6(A2ML1):c.289C>G (p.Arg97Gly) rs199701571
NM_144670.6(A2ML1):c.290_384dup (p.Pro129delinsGlyCysArgGluLeuGluIleThrSerAlaLeuArgArgArgLysArgPheTer) rs1942828214
NM_144670.6(A2ML1):c.29T>A (p.Leu10Ter) rs2136691291
NM_144670.6(A2ML1):c.3007G>C (p.Val1003Leu) rs2136913749
NM_144670.6(A2ML1):c.3108-11T>C
NM_144670.6(A2ML1):c.3124A>G (p.Thr1042Ala) rs565930773
NM_144670.6(A2ML1):c.3264+4C>T
NM_144670.6(A2ML1):c.3294T>G (p.Thr1098=) rs764429289
NM_144670.6(A2ML1):c.3296C>T (p.Ala1099Val) rs751968824
NM_144670.6(A2ML1):c.3346A>G (p.Met1116Val) rs79889829
NM_144670.6(A2ML1):c.3381G>A (p.Ser1127=)
NM_144670.6(A2ML1):c.3393G>A (p.Thr1131=)
NM_144670.6(A2ML1):c.3434C>A (p.Ser1145Tyr)
NM_144670.6(A2ML1):c.3434C>T (p.Ser1145Phe) rs768331924
NM_144670.6(A2ML1):c.3447A>G (p.Glu1149=)
NM_144670.6(A2ML1):c.3462C>T (p.Asn1154=)
NM_144670.6(A2ML1):c.3718-16_3791dup rs1944470043
NM_144670.6(A2ML1):c.3718-6C>T rs1944470448
NM_144670.6(A2ML1):c.3886G>A (p.Gly1296Arg) rs760857113
NM_144670.6(A2ML1):c.3971T>C (p.Met1324Thr)
NM_144670.6(A2ML1):c.3971T>G (p.Met1324Arg) rs1341976356
NM_144670.6(A2ML1):c.4061+16G>A rs200962359
NM_144670.6(A2ML1):c.4061+1G>C rs202067416
NM_144670.6(A2ML1):c.4088A>G (p.Asn1363Ser)
NM_144670.6(A2ML1):c.409+13T>C
NM_144670.6(A2ML1):c.4105G>T (p.Val1369Leu) rs755052089
NM_144670.6(A2ML1):c.44C>A (p.Ala15Asp) rs1942780601
NM_144670.6(A2ML1):c.462+16G>A
NM_144670.6(A2ML1):c.462+19A>G
NM_144670.6(A2ML1):c.462+2T>C rs201877710
NM_144670.6(A2ML1):c.462+9GGA[2] rs750639846
NM_144670.6(A2ML1):c.479T>C (p.Leu160Pro) rs769954501
NM_144670.6(A2ML1):c.52G>A (p.Glu18Lys)
NM_144670.6(A2ML1):c.540T>C (p.Ile180=) rs377551636
NM_144670.6(A2ML1):c.619G>C (p.Gly207Arg) rs11047499
NM_144670.6(A2ML1):c.619G>T (p.Gly207Cys) rs11047499
NM_144670.6(A2ML1):c.63-6del rs1463624612
NM_144670.6(A2ML1):c.861C>A (p.Asp287Glu) rs61921916
NM_144670.6(A2ML1):c.888G>A (p.Val296=)
NM_144670.6(A2ML1):c.921G>C (p.Ala307=) rs372520121
NM_144670.6(A2ML1):c.941T>G (p.Ile314Ser) rs889804273

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