ClinVar Miner

List of variants in gene ABCC6 studied for not provided

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Gene type:
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Total variants: 158
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HGVS dbSNP
GRCh37/hg19 16p13.11(chr16:16246164-16261251)x1
GRCh37/hg19 16p13.11(chr16:16247252-16258276)x1
GRCh37/hg19 16p13.11(chr16:16247252-16258394)x1
GRCh37/hg19 16p13.11(chr16:16247252-16262036)x1
GRCh37/hg19 16p13.11(chr16:16247470-16262036)x1
GRCh37/hg19 16p13.11(chr16:16247818-16262005)x1
GRCh37/hg19 16p13.11(chr16:16248154-16262036)x1
GRCh37/hg19 16p13.11(chr16:16248500-16261251)x1
GRCh37/hg19 16p13.11(chr16:16248500-16262572)x1
GRCh37/hg19 16p13.11(chr16:16258393-16295900)x1
GRCh37/hg19 16p13.11(chr16:16259360-16302623)x1
NC_000016.10:g.(?_16157663)_(16163192_?)del
NM_001171.5(ABCC6):c.1059C>T (p.Ala353=) rs150016641
NM_001171.5(ABCC6):c.1060G>A (p.Val354Met) rs372132926
NM_001171.5(ABCC6):c.1077A>G (p.Ser359=) rs72664283
NM_001171.5(ABCC6):c.1094T>C (p.Leu365Pro) rs1064794607
NM_001171.5(ABCC6):c.109G>T (p.Val37Phe) rs557779326
NM_001171.5(ABCC6):c.1112T>C (p.Met371Thr) rs756614582
NM_001171.5(ABCC6):c.1132C>T (p.Gln378Ter) rs72650699
NM_001171.5(ABCC6):c.1155C>T (p.Ile385=) rs774597736
NM_001171.5(ABCC6):c.1171A>G (p.Arg391Gly) rs72653762
NM_001171.5(ABCC6):c.1209C>A (p.Ala403=) rs1596704087
NM_001171.5(ABCC6):c.1224T>C (p.Asp408=) rs1596703976
NM_001171.5(ABCC6):c.1233T>C (p.Asn411=) rs9930886
NM_001171.5(ABCC6):c.1248C>T (p.Asp416=) rs143487365
NM_001171.5(ABCC6):c.1256G>A (p.Arg419Gln) rs772434460
NM_001171.5(ABCC6):c.1263C>T (p.Thr421=) rs114179357
NM_001171.5(ABCC6):c.1284C>T (p.Asn428=) rs57499497
NM_001171.5(ABCC6):c.1312G>A (p.Val438Met) rs542502733
NM_001171.5(ABCC6):c.1344G>A (p.Leu448=) rs58703366
NM_001171.5(ABCC6):c.1347G>T (p.Gly449=) rs1403825556
NM_001171.5(ABCC6):c.1417A>C (p.Arg473=) rs939836975
NM_001171.5(ABCC6):c.1424A>T (p.His475Leu) rs151187637
NM_001171.5(ABCC6):c.1432-9C>T rs201633047
NM_001171.5(ABCC6):c.1526C>G (p.Ala509Gly) rs779408186
NM_001171.5(ABCC6):c.1552C>T (p.Arg518Ter) rs72650700
NM_001171.5(ABCC6):c.1553G>A (p.Arg518Gln) rs72653772
NM_001171.5(ABCC6):c.1569C>T (p.Gly523=) rs145764775
NM_001171.5(ABCC6):c.1586G>A (p.Gly529Asp) rs199643353
NM_001171.5(ABCC6):c.1636-10C>T rs61480102
NM_001171.5(ABCC6):c.1639G>A (p.Ala547Thr) rs56877937
NM_001171.5(ABCC6):c.1675G>T (p.Glu559Ter) rs114149656
NM_001171.5(ABCC6):c.1760C>G (p.Ser587Cys) rs527236047
NM_001171.5(ABCC6):c.1765_1766insCTGC (p.His589fs) rs1567511016
NM_001171.5(ABCC6):c.1779+9G>T rs1212865583
NM_001171.5(ABCC6):c.1783C>T (p.Arg595Trp) rs150866831
NM_001171.5(ABCC6):c.1799G>C (p.Arg600Pro) rs761433545
NM_001171.5(ABCC6):c.1815C>T (p.Leu605=) rs61318127
NM_001171.5(ABCC6):c.1868-5T>G rs72664207
NM_001171.5(ABCC6):c.1908C>T (p.Phe636=) rs767365625
NM_001171.5(ABCC6):c.1943+10G>C rs116092959
NM_001171.5(ABCC6):c.1944-8G>A rs373223582
NM_001171.5(ABCC6):c.1990C>T (p.Pro664Ser) rs59002125
NM_001171.5(ABCC6):c.2017C>T (p.Leu673=) rs749625887
NM_001171.5(ABCC6):c.2018T>C (p.Leu673Pro) rs67470842
NM_001171.5(ABCC6):c.2025C>A (p.Ala675=) rs1596657871
NM_001171.5(ABCC6):c.2058C>T (p.Phe686=) rs57866002
NM_001171.5(ABCC6):c.2059G>A (p.Val687Met) rs368806440
NM_001171.5(ABCC6):c.2067C>T (p.Ile689=) rs61266641
NM_001171.5(ABCC6):c.2121G>C (p.Val707=) rs778711523
NM_001171.5(ABCC6):c.2134T>C (p.Cys712Arg) rs140013237
NM_001171.5(ABCC6):c.2293C>G (p.Arg765Gly) rs776513864
NM_001171.5(ABCC6):c.2294G>A (p.Arg765Gln) rs67561842
NM_001171.5(ABCC6):c.2359G>A (p.Val787Ile) rs72653792
NM_001171.5(ABCC6):c.2390G>A (p.Gly797Glu) rs768570780
NM_001171.5(ABCC6):c.2393C>T (p.Pro798Leu) rs142223793
NM_001171.5(ABCC6):c.2400G>A (p.Gly800=)
NM_001171.5(ABCC6):c.2420G>A (p.Arg807Gln) rs72653794
NM_001171.5(ABCC6):c.2428G>A (p.Val810Met) rs72653795
NM_001171.5(ABCC6):c.2478G>C (p.Leu826=) rs138026855
NM_001171.5(ABCC6):c.2542G>A (p.Val848Met)
NM_001171.5(ABCC6):c.2542del (p.Val848fs) rs67867306
NM_001171.5(ABCC6):c.258C>T (p.Ser86=) rs1216946994
NM_001171.5(ABCC6):c.2590+9T>C rs775583181
NM_001171.5(ABCC6):c.2591-1G>T rs1131691865
NM_001171.5(ABCC6):c.2628C>A (p.Gly876=) rs115379860
NM_001171.5(ABCC6):c.2695C>T (p.Arg899Cys) rs11861980
NM_001171.5(ABCC6):c.2696G>A (p.Arg899His) rs116355959
NM_001171.5(ABCC6):c.2707G>C (p.Glu903Gln) rs60712230
NM_001171.5(ABCC6):c.2757A>G (p.Pro919=) rs140467297
NM_001171.5(ABCC6):c.2781C>T (p.Tyr927=) rs61731973
NM_001171.5(ABCC6):c.2782G>A (p.Gly928Ser) rs142470921
NM_001171.5(ABCC6):c.2787+1G>T rs72664209
NM_001171.5(ABCC6):c.2814C>A (p.Tyr938Ter) rs72653704
NM_001171.5(ABCC6):c.2848G>A (p.Ala950Thr) rs72657689
NM_001171.5(ABCC6):c.2855_2860TCCTCT[1] (p.952_953FL[1]) rs767359198
NM_001171.5(ABCC6):c.2904G>A (p.Leu968=) rs72664287
NM_001171.5(ABCC6):c.2935G>C (p.Gly979Arg) rs569941928
NM_001171.5(ABCC6):c.2946G>A (p.Thr982=) rs138410013
NM_001171.5(ABCC6):c.2965G>A (p.Gly989Arg) rs529676674
NM_001171.5(ABCC6):c.2995+6C>T rs373896559
NM_001171.5(ABCC6):c.3024G>A (p.Ala1008=) rs372041663
NM_001171.5(ABCC6):c.3064C>G (p.Gln1022Glu) rs57179857
NM_001171.5(ABCC6):c.3114G>T (p.Arg1038=) rs1475667555
NM_001171.5(ABCC6):c.3143_3145del (p.Phe1048del) rs769437554
NM_001171.5(ABCC6):c.3207C>T (p.Tyr1069=) rs60975032
NM_001171.5(ABCC6):c.3289C>A (p.Leu1097Ile) rs60707953
NM_001171.5(ABCC6):c.3398G>C (p.Gly1133Ala) rs63750473
NM_001171.5(ABCC6):c.3412C>T (p.Arg1138Trp) rs28939701
NM_001171.5(ABCC6):c.3413G>A (p.Arg1138Gln) rs60791294
NM_001171.5(ABCC6):c.3415G>A (p.Ala1139Thr) rs63750146
NM_001171.5(ABCC6):c.3421C>T (p.Arg1141Ter) rs72653706
NM_001171.5(ABCC6):c.3422G>A (p.Arg1141Gln) rs572351621
NM_001171.5(ABCC6):c.345+10C>T rs768002646
NM_001171.5(ABCC6):c.3459C>T (p.Arg1153=) rs59030767
NM_001171.5(ABCC6):c.3490C>T (p.Arg1164Ter) rs72653744
NM_001171.5(ABCC6):c.3491G>A (p.Arg1164Gln) rs63750457
NM_001171.5(ABCC6):c.3557C>A (p.Ala1186Asp) rs149460452
NM_001171.5(ABCC6):c.3564G>A (p.Thr1188=) rs58494932
NM_001171.5(ABCC6):c.3644C>T (p.Thr1215Ile) rs764318423
NM_001171.5(ABCC6):c.3691G>A (p.Val1231Met) rs141728905
NM_001171.5(ABCC6):c.3732G>A (p.Lys1244=) rs773961518
NM_001171.5(ABCC6):c.3739C>T (p.Pro1247Ser) rs199694536
NM_001171.5(ABCC6):c.3751C>T (p.Pro1251Ser) rs148326870
NM_001171.5(ABCC6):c.3795C>T (p.Ile1265=) rs114175094
NM_001171.5(ABCC6):c.3802C>T (p.Arg1268Trp) rs368379895
NM_001171.5(ABCC6):c.3803G>A (p.Arg1268Gln) rs2238472
NM_001171.5(ABCC6):c.3852C>T (p.Gly1284=) rs56982924
NM_001171.5(ABCC6):c.3871G>A (p.Ala1291Thr) rs58694313
NM_001171.5(ABCC6):c.3883-7C>T rs61097521
NM_001171.5(ABCC6):c.3904G>A (p.Gly1302Arg) rs63749856
NM_001171.5(ABCC6):c.3940C>T (p.Arg1314Trp) rs63750759
NM_001171.5(ABCC6):c.396A>G (p.Ser132=) rs913912489
NM_001171.5(ABCC6):c.3978C>T (p.Asp1326=) rs57499803
NM_001171.5(ABCC6):c.3980G>A (p.Gly1327Glu) rs57695665
NM_001171.5(ABCC6):c.4002G>C (p.Gly1334=) rs139128550
NM_001171.5(ABCC6):c.4016G>A (p.Arg1339His) rs63750622
NM_001171.5(ABCC6):c.4042-5G>A rs578175155
NM_001171.5(ABCC6):c.4069C>T (p.Arg1357Trp) rs63750428
NM_001171.5(ABCC6):c.4081G>A (p.Asp1361Asn) rs58695352
NM_001171.5(ABCC6):c.4182del (p.Lys1394fs) rs67791546
NM_001171.5(ABCC6):c.4208+8C>T rs56688069
NM_001171.5(ABCC6):c.4249C>G (p.Leu1417Val) rs1567460585
NM_001171.5(ABCC6):c.4253G>A (p.Arg1418Gln) rs63751262
NM_001171.5(ABCC6):c.4254G>A (p.Arg1418=) rs58668703
NM_001171.5(ABCC6):c.4425G>A (p.Gly1475=) rs114099077
NM_001171.5(ABCC6):c.4441G>A (p.Gly1481Ser) rs63751279
NM_001171.5(ABCC6):c.4448C>T (p.Pro1483Leu) rs63750135
NM_001171.5(ABCC6):c.4473C>T (p.Gly1491=) rs141860096
NM_001171.5(ABCC6):c.487G>A (p.Asp163Asn) rs192110266
NM_001171.5(ABCC6):c.496C>T (p.Arg166Cys) rs201766106
NM_001171.5(ABCC6):c.560C>T (p.Ala187Val) rs561266462
NM_001171.5(ABCC6):c.645G>A (p.Thr215=) rs72664282
NM_001171.5(ABCC6):c.742C>T (p.Leu248Phe) rs72653756
NM_001171.5(ABCC6):c.793A>G (p.Arg265Gly) rs72657698
NM_001171.5(ABCC6):c.890G>A (p.Arg297His) rs199729978
NM_001171.5(ABCC6):c.955A>G (p.Ile319Val) rs72657699
NM_001171.5(ABCC6):c.993G>T (p.Leu331=) rs146523238
NM_001171.6(ABCC6):c.1339-2A>G
NM_001171.6(ABCC6):c.1505A>G (p.Lys502Arg)
NM_001171.6(ABCC6):c.1955C>T (p.Thr652Met)
NM_001171.6(ABCC6):c.2635G>A (p.Ala879Thr)
NM_001171.6(ABCC6):c.474G>A (p.Ala158=)
NM_001171.6(ABCC6):c.751C>T (p.Arg251Trp)
NM_001171.6(ABCC6):c.856G>A (p.Glu286Lys)
NM_001351800.1(ABCC6):c.-178dup rs1064793538
NM_001351800.1(ABCC6):c.-195G>A rs183648123
NM_001351800.1(ABCC6):c.3270_3271CT[1] (p.Ser1091fs) rs745900279

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