ClinVar Miner

List of variants in gene ABCC6 studied for not provided

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Gene type:
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Total variants: 69
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HGVS dbSNP
GRCh37/hg19 16p13.11(chr16:16246164-16261251)x1
GRCh37/hg19 16p13.11(chr16:16248500-16261251)x1
GRCh37/hg19 16p13.11(chr16:16248500-16262572)x1
NM_001171.5(ABCC6):c.1094T>C (p.Leu365Pro) rs1064794607
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.1171A>G (p.Arg391Gly) rs72653762
NM_001171.5(ABCC6):c.1233T>C (p.Asn411=) rs9930886
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.1424A>T (p.His475Leu) rs151187637
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.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.1799G>C (p.Arg600Pro) rs761433545
NM_001171.5(ABCC6):c.179G>A (p.Arg60Gln) rs183648123
NM_001171.5(ABCC6):c.1868-5T>G rs72664207
NM_001171.5(ABCC6):c.196dup (p.Ser66fs) rs1064793538
NM_001171.5(ABCC6):c.1990C>T (p.Pro664Ser) rs59002125
NM_001171.5(ABCC6):c.2018T>C (p.Leu673Pro) rs67470842
NM_001171.5(ABCC6):c.2059G>A (p.Val687Met) rs368806440
NM_001171.5(ABCC6):c.2293C>G (p.Arg765Gly) rs776513864
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.2420G>A (p.Arg807Gln) rs72653794
NM_001171.5(ABCC6):c.2428G>A (p.Val810Met) rs72653795
NM_001171.5(ABCC6):c.2591-1G>T rs1131691865
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.2935G>C (p.Gly979Arg) rs569941928
NM_001171.5(ABCC6):c.2965G>A (p.Gly989Arg) rs529676674
NM_001171.5(ABCC6):c.3143_3145del (p.Phe1048del) rs769437554
NM_001171.5(ABCC6):c.3289C>A (p.Leu1097Ile)
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.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.3612_3613CT[1] (p.Ser1205fs) rs745900279
NM_001171.5(ABCC6):c.3691G>A (p.Val1231Met) rs141728905
NM_001171.5(ABCC6):c.3739C>T (p.Pro1247Ser) rs199694536
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.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.4002G>C (p.Gly1334=) rs139128550
NM_001171.5(ABCC6):c.4016G>A (p.Arg1339His) rs63750622
NM_001171.5(ABCC6):c.4042-5G>A
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.4249C>G (p.Leu1417Val) rs1567460585
NM_001171.5(ABCC6):c.4253G>A (p.Arg1418Gln) rs63751262
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.742C>T (p.Leu248Phe) rs72653756
NM_001171.5(ABCC6):c.793A>G (p.Arg265Gly) rs72657698

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