ClinVar Miner

List of variants in gene ABCC6 reported as pathogenic for not provided

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Gene type:
ClinVar version:
Total variants: 148
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HGVS dbSNP gnomAD frequency
NM_001171.6(ABCC6):c.1171A>G (p.Arg391Gly) rs72653762 0.00459
NM_001171.6(ABCC6):c.3421C>T (p.Arg1141Ter) rs72653706 0.00122
NM_001171.6(ABCC6):c.3940C>T (p.Arg1314Trp) rs63750759 0.00069
NM_001171.6(ABCC6):c.1703T>C (p.Phe568Ser) rs66864704 0.00036
NM_001171.6(ABCC6):c.1132C>T (p.Gln378Ter) rs72650699 0.00019
NM_001171.6(ABCC6):c.2787+1G>T rs72664209 0.00017
NM_001171.6(ABCC6):c.3490C>T (p.Arg1164Ter) rs72653744 0.00012
NM_001171.6(ABCC6):c.1553G>A (p.Arg518Gln) rs72653772 0.00011
NM_001171.6(ABCC6):c.3941G>A (p.Arg1314Gln) rs63751086 0.00011
NM_001171.6(ABCC6):c.3341G>A (p.Arg1114His) rs63750427 0.00009
NM_001171.6(ABCC6):c.4015C>T (p.Arg1339Cys) rs28939702 0.00008
NM_001171.6(ABCC6):c.2278C>T (p.Arg760Trp) rs72653788 0.00006
NM_001171.6(ABCC6):c.2294G>A (p.Arg765Gln) rs67561842 0.00006
NM_001171.6(ABCC6):c.2542del (p.Met848fs) rs67867306 0.00006
NM_001171.6(ABCC6):c.3389C>T (p.Thr1130Met) rs63750459 0.00006
NM_001171.6(ABCC6):c.3413G>A (p.Arg1138Gln) rs60791294 0.00006
NM_001171.6(ABCC6):c.3887G>A (p.Gly1296Asp) rs374086268 0.00006
NM_001171.6(ABCC6):c.3775del (p.Trp1259fs) rs72664233 0.00005
NM_001171.6(ABCC6):c.1552C>T (p.Arg518Ter) rs72650700 0.00004
NM_001171.6(ABCC6):c.1798C>T (p.Arg600Cys) rs72653777 0.00004
NM_001171.6(ABCC6):c.3340C>T (p.Arg1114Cys) rs63749794 0.00004
NM_001171.6(ABCC6):c.3412C>T (p.Arg1138Trp) rs28939701 0.00004
NM_001171.6(ABCC6):c.4069C>T (p.Arg1357Trp) rs63750428 0.00004
NM_001171.6(ABCC6):c.4182del (p.Lys1394fs) rs67791546 0.00004
NM_001171.6(ABCC6):c.1256G>A (p.Arg419Gln) rs772434460 0.00003
NM_001171.6(ABCC6):c.2263G>A (p.Gly755Arg) rs72653787 0.00003
NM_001171.6(ABCC6):c.2420G>A (p.Arg807Gln) rs72653794 0.00003
NM_001171.6(ABCC6):c.3662G>A (p.Arg1221His) rs63751001 0.00003
NM_001171.6(ABCC6):c.3703C>T (p.Arg1235Trp) rs63750402 0.00003
NM_001171.6(ABCC6):c.3904G>A (p.Gly1302Arg) rs63749856 0.00003
NM_001171.6(ABCC6):c.4016G>A (p.Arg1339His) rs63750622 0.00003
NM_001171.6(ABCC6):c.4104del (p.Asp1368fs) rs72664237 0.00003
NM_001171.6(ABCC6):c.1460G>A (p.Arg487Gln) rs72653768 0.00002
NM_001171.6(ABCC6):c.3088C>T (p.Arg1030Ter) rs72653705 0.00002
NM_001171.6(ABCC6):c.3188T>G (p.Leu1063Arg) rs72657695 0.00002
NM_001171.6(ABCC6):c.3491G>A (p.Arg1164Gln) rs63750457 0.00002
NM_001171.6(ABCC6):c.3661C>T (p.Arg1221Cys) rs63751215 0.00002
NM_001171.6(ABCC6):c.3883-6G>A rs72664214 0.00002
NM_001171.6(ABCC6):c.3902C>T (p.Thr1301Ile) rs63750494 0.00002
NM_001171.6(ABCC6):c.3907G>C (p.Ala1303Pro) rs63750410 0.00002
NM_001171.6(ABCC6):c.4192C>T (p.Arg1398Ter) rs66913554 0.00002
NM_001171.6(ABCC6):c.1199C>T (p.Ser400Phe) rs747386965 0.00001
NM_001171.6(ABCC6):c.1255C>T (p.Arg419Trp) rs775853778 0.00001
NM_001171.6(ABCC6):c.1484T>A (p.Leu495His) rs72653769 0.00001
NM_001171.6(ABCC6):c.1799G>A (p.Arg600His) rs761433545 0.00001
NM_001171.6(ABCC6):c.1799_1805dup (p.Thr603fs) rs781369291 0.00001
NM_001171.6(ABCC6):c.2018T>C (p.Leu673Pro) rs67470842 0.00001
NM_001171.6(ABCC6):c.2279G>A (p.Arg760Gln) rs769405586 0.00001
NM_001171.6(ABCC6):c.2678C>G (p.Ser893Ter) rs1481200467 0.00001
NM_001171.6(ABCC6):c.3381G>A (p.Met1127Ile) rs63750758 0.00001
NM_001171.6(ABCC6):c.3507-1G>A rs72664210 0.00001
NM_001171.6(ABCC6):c.37-1G>A rs72657702 0.00001
NM_001171.6(ABCC6):c.3722G>A (p.Trp1241Ter) rs72653748 0.00001
NM_001171.6(ABCC6):c.3736-1G>A rs63750273 0.00001
NM_001171.6(ABCC6):c.3823C>T (p.Arg1275Ter) rs72653749 0.00001
NM_001171.6(ABCC6):c.3971G>A (p.Trp1324Ter) rs72653750 0.00001
NM_001171.6(ABCC6):c.4041G>A (p.Gln1347=) rs63751111 0.00001
NM_001171.6(ABCC6):c.4198G>A (p.Glu1400Lys) rs63751241 0.00001
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(chr16:16248485-16259790)x1
GRCh37/hg19 16p13.11(chr16:16258393-16295900)x1
GRCh37/hg19 16p13.11(chr16:16259360-16302623)x1
NC_000016.9:g.(?_16243990)_(16292059_?)del
NC_000016.9:g.(?_16248465)_(16248908_?)del
NC_000016.9:g.(?_16248465)_(16259810_?)del
NC_000016.9:g.(?_16251500)_(16257069_?)del
NC_000016.9:g.(?_16259460)_(16292059_?)del
NC_000016.9:g.(?_16263483)_(16292059_?)del
NC_000016.9:g.(?_16267121)_(16267281_?)del
NC_000016.9:g.(?_16278796)_(16278911_?)del
NC_000016.9:g.(?_16291858)_(16292059_?)del
NM_001171.5(ABCC6):c.1944_1965del22
NM_001171.6(ABCC6):c.105del (p.Val37fs) rs72664223
NM_001171.6(ABCC6):c.1277dup (p.Tyr426Ter)
NM_001171.6(ABCC6):c.1288del (p.Leu430fs)
NM_001171.6(ABCC6):c.1308G>A (p.Trp436Ter)
NM_001171.6(ABCC6):c.1334G>A (p.Trp445Ter)
NM_001171.6(ABCC6):c.1339-2A>G rs2047911840
NM_001171.6(ABCC6):c.1355C>A (p.Ala452Asp)
NM_001171.6(ABCC6):c.1413del (p.Arg473fs) rs1596687174
NM_001171.6(ABCC6):c.1505A>G (p.Lys502Arg) rs72653771
NM_001171.6(ABCC6):c.1609del (p.Val537fs) rs1596678798
NM_001171.6(ABCC6):c.1674del (p.Glu559fs) rs1313008538
NM_001171.6(ABCC6):c.1675G>T (p.Glu559Ter) rs114149656
NM_001171.6(ABCC6):c.1755del (p.Phe586fs)
NM_001171.6(ABCC6):c.1777C>T (p.Gln593Ter)
NM_001171.6(ABCC6):c.1786del (p.Val596fs)
NM_001171.6(ABCC6):c.1791del (p.Phe598fs)
NM_001171.6(ABCC6):c.1799G>C (p.Arg600Pro) rs761433545
NM_001171.6(ABCC6):c.1857dup (p.Ser620fs) rs72664218
NM_001171.6(ABCC6):c.196dup (p.Ser66fs) rs1064793538
NM_001171.6(ABCC6):c.1999del (p.Ala667fs) rs72664227
NM_001171.6(ABCC6):c.2044_2045del (p.Lys682fs)
NM_001171.6(ABCC6):c.2047del (p.Val683fs)
NM_001171.6(ABCC6):c.2068G>T (p.Glu690Ter)
NM_001171.6(ABCC6):c.2125G>T (p.Glu709Ter) rs114303883
NM_001171.6(ABCC6):c.2162G>A (p.Trp721Ter) rs72650701
NM_001171.6(ABCC6):c.2293C>T (p.Arg765Trp) rs776513864
NM_001171.6(ABCC6):c.2304C>A (p.Tyr768Ter) rs66492417
NM_001171.6(ABCC6):c.2338del (p.Leu780fs) rs1596649191
NM_001171.6(ABCC6):c.2365C>T (p.Gln789Ter)
NM_001171.6(ABCC6):c.2407del (p.Gln803fs) rs2152252393
NM_001171.6(ABCC6):c.2432C>T (p.Thr811Met) rs72653796
NM_001171.6(ABCC6):c.2437_2440del (p.Ala813fs)
NM_001171.6(ABCC6):c.2464_2465del (p.Trp822fs)
NM_001171.6(ABCC6):c.2536dup (p.Ala846fs) rs2152249910
NM_001171.6(ABCC6):c.2698dup (p.Thr900fs) rs2152243320
NM_001171.6(ABCC6):c.2781C>A (p.Tyr927Ter) rs61731973
NM_001171.6(ABCC6):c.2781C>G (p.Tyr927Ter)
NM_001171.6(ABCC6):c.2784_2787del (p.Gly928_Arg929insTer) rs765405352
NM_001171.6(ABCC6):c.2814C>A (p.Tyr938Ter) rs72653704
NM_001171.6(ABCC6):c.2889C>A (p.Cys963Ter) rs2152235635
NM_001171.6(ABCC6):c.2974G>A (p.Gly992Arg) rs72657692
NM_001171.6(ABCC6):c.2974G>C (p.Gly992Arg) rs72657692
NM_001171.6(ABCC6):c.2992C>T (p.Gln998Ter)
NM_001171.6(ABCC6):c.3077G>A (p.Trp1026Ter)
NM_001171.6(ABCC6):c.3250del (p.Thr1084fs)
NM_001171.6(ABCC6):c.3256_3257dup (p.Ala1087fs)
NM_001171.6(ABCC6):c.3294C>A (p.Tyr1098Ter) rs371889155
NM_001171.6(ABCC6):c.3304C>T (p.Gln1102Ter)
NM_001171.6(ABCC6):c.3315T>G (p.Tyr1105Ter) rs1268592638
NM_001171.6(ABCC6):c.3335dup (p.Arg1113fs)
NM_001171.6(ABCC6):c.3341G>C (p.Arg1114Pro) rs63750427
NM_001171.6(ABCC6):c.3362C>T (p.Ser1121Leu) rs63750987
NM_001171.6(ABCC6):c.3427del (p.Gln1143fs)
NM_001171.6(ABCC6):c.3497del (p.Val1166fs) rs2152224246
NM_001171.6(ABCC6):c.3506+1G>A
NM_001171.6(ABCC6):c.3506+2_3506+5del rs72664211
NM_001171.6(ABCC6):c.3507-2A>G
NM_001171.6(ABCC6):c.3510G>A (p.Trp1170Ter)
NM_001171.6(ABCC6):c.3614_3615del (p.Ser1205fs) rs745900279
NM_001171.6(ABCC6):c.3634-1G>T rs2152218824
NM_001171.6(ABCC6):c.3668G>A (p.Trp1223Ter) rs72653745
NM_001171.6(ABCC6):c.3774dup (p.Trp1259fs) rs72664220
NM_001171.6(ABCC6):c.3835_3838del (p.Pro1279fs)
NM_001171.6(ABCC6):c.3852del (p.Val1285fs)
NM_001171.6(ABCC6):c.3913_3931dup (p.Gly1311fs)
NM_001171.6(ABCC6):c.3987dup (p.Ile1330fs) rs1567465730
NM_001171.6(ABCC6):c.4063_4080del (p.Ser1355_Leu1360del) rs2152211980
NM_001171.6(ABCC6):c.4093del (p.Glu1365fs)
NM_001171.6(ABCC6):c.4242dup (p.Ala1415fs)
NM_001171.6(ABCC6):c.4254del (p.Lys1419fs) rs1448934731
NM_001171.6(ABCC6):c.4279G>A (p.Glu1427Lys)

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