ClinVar Miner

List of variants in gene ABCC6 reported as benign

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Gene type:
ClinVar version:
Total variants: 112
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HGVS dbSNP gnomAD frequency
NM_001171.6(ABCC6):c.3633+100A>C rs3851721 0.97755
NM_001171.6(ABCC6):c.2787+62T>C rs11866320 0.97736
NM_001171.6(ABCC6):c.2788-127A>G rs7201980 0.97599
NM_001171.6(ABCC6):c.2788-154T>C rs6498608 0.97501
NM_001171.6(ABCC6):c.3882+85C>T rs3896244 0.97343
NM_001171.6(ABCC6):c.2400A>G (p.Gly800=) rs7500834 0.96880
NM_001171.6(ABCC6):c.2542A>G (p.Met848Val) rs6416668 0.96848
NM_001171.6(ABCC6):c.2416-145G>A rs6498616 0.95970
NM_001171.6(ABCC6):c.1432-48G>A rs7193932 0.95000
NM_001171.6(ABCC6):c.2666+198T>C rs7405025 0.93190
NM_001171.6(ABCC6):c.1338+7C>G rs9940089 0.75013
NM_001171.6(ABCC6):c.1431+73C>G rs6498618 0.71456
NM_001171.6(ABCC6):c.1841T>C (p.Val614Ala) rs12931472 0.44841
NM_001171.6(ABCC6):c.1867+92G>A rs7192265 0.44653
NM_001171.6(ABCC6):c.1780-86G>T rs4369696 0.44514
NM_001171.6(ABCC6):c.1867+86T>C rs7192961 0.43963
NM_001171.6(ABCC6):c.1943+121T>A rs2239323 0.43604
NM_001171.6(ABCC6):c.1896C>A (p.His632Gln) rs8058694 0.43467
NM_001171.6(ABCC6):c.1890C>G (p.Thr630=) rs8058696 0.42733
NM_001171.6(ABCC6):c.4404-31A>G rs212097 0.35863
NM_001171.6(ABCC6):c.1233T>C (p.Asn411=) rs9930886 0.31672
NM_001171.6(ABCC6):c.1245G>A (p.Val415=) rs9940825 0.30255
NM_001171.6(ABCC6):c.1432-41A>G rs2239322 0.23891
NM_001171.6(ABCC6):c.1635+48C>T rs55707615 0.23698
NM_001171.6(ABCC6):c.1338+62C>G rs58394656 0.23048
NM_001171.6(ABCC6):c.3803G>A (p.Arg1268Gln) rs2238472 0.22903
NM_001171.6(ABCC6):c.3633+55C>T rs3213470 0.20050
NM_001171.6(ABCC6):c.3633+90G>A rs2376957 0.19271
NM_001171.6(ABCC6):c.2490C>T (p.Ala830=) rs9924755 0.17690
NM_001171.6(ABCC6):c.4042-30C>T rs2066738 0.14932
NM_001171.6(ABCC6):c.4404-76A>G rs212098 0.13352
NC_000016.10:g.16223561G>A rs778876717 0.09485
NM_001171.6(ABCC6):c.2835C>T (p.Pro945=) rs2856585 0.08929
NM_001171.6(ABCC6):c.793A>G (p.Arg265Gly) rs72657698 0.06836
NM_001171.6(ABCC6):c.*17G>A rs3902401 0.05552
NM_001171.6(ABCC6):c.3507-16T>C rs3213471 0.04995
NM_001171.6(ABCC6):c.645G>A (p.Thr215=) rs72664282 0.04543
NM_001171.6(ABCC6):c.345+26C>T rs56019914 0.03581
NM_001171.6(ABCC6):c.346-6G>A rs55778939 0.03265
NM_001171.6(ABCC6):c.3871G>A (p.Ala1291Thr) rs58694313 0.02791
NM_001171.6(ABCC6):c.2175A>T (p.Val725=) rs59757815 0.02503
NM_001171.6(ABCC6):c.2224A>G (p.Ile742Val) rs59593133 0.02501
NM_001171.6(ABCC6):c.662+12C>T rs1555520951 0.01842
NM_001171.6(ABCC6):c.2836C>A (p.Leu946Ile) rs61340537 0.01730
NM_001171.6(ABCC6):c.3190C>T (p.Arg1064Trp) rs41278174 0.01708
NM_001171.6(ABCC6):c.2171G>A (p.Arg724Lys) rs58073789 0.01638
NM_001171.6(ABCC6):c.1344G>A (p.Leu448=) rs58703366 0.01571
NM_001171.6(ABCC6):c.3507-3C>T rs41278172 0.01517
NM_001171.6(ABCC6):c.1077A>G (p.Ser359=) rs72664283 0.01355
NM_001171.6(ABCC6):c.4208+9G>A rs58760581 0.01119
NM_001171.6(ABCC6):c.993G>T (p.Leu331=) rs146523238 0.01092
NM_001171.6(ABCC6):c.487G>A (p.Asp163Asn) rs192110266 0.00934
NM_001171.6(ABCC6):c.3289C>A (p.Leu1097Ile) rs60707953 0.00849
NM_001171.6(ABCC6):c.2067C>T (p.Ile689=) rs61266641 0.00789
NM_001171.6(ABCC6):c.4254G>A (p.Arg1418=) rs58668703 0.00784
NM_001171.6(ABCC6):c.2707G>C (p.Glu903Gln) rs60712230 0.00774
NM_001171.6(ABCC6):c.955A>G (p.Ile319Val) rs72657699 0.00744
NM_001171.6(ABCC6):c.1815C>T (p.Leu605=) rs61318127 0.00732
NM_001171.6(ABCC6):c.3207C>T (p.Tyr1069=) rs60975032 0.00510
NM_001171.6(ABCC6):c.3883-24G>A rs59513011 0.00475
NM_001171.6(ABCC6):c.3980G>A (p.Gly1327Glu) rs57695665 0.00432
NM_001171.6(ABCC6):c.3459C>T (p.Arg1153=) rs59030767 0.00369
NM_001171.6(ABCC6):c.1636-10C>T rs61480102 0.00335
NM_001171.6(ABCC6):c.3852C>T (p.Gly1284=) rs56982924 0.00251
NM_001171.6(ABCC6):c.1248C>T (p.Asp416=) rs143487365 0.00247
NM_001171.6(ABCC6):c.1284C>T (p.Asn428=) rs57499497 0.00245
NM_001171.6(ABCC6):c.3507-19C>T rs115016469 0.00209
NM_001171.6(ABCC6):c.*38G>A rs59461468 0.00206
NM_001171.6(ABCC6):c.3064C>G (p.Gln1022Glu) rs57179857 0.00186
NM_001171.6(ABCC6):c.1263C>T (p.Thr421=) rs114179357 0.00180
NM_001171.6(ABCC6):c.2781C>T (p.Tyr927=) rs61731973 0.00153
NM_001171.6(ABCC6):c.4425G>A (p.Gly1475=) rs114099077 0.00149
NM_001171.6(ABCC6):c.600+23C>T rs72664290 0.00101
NM_001171.6(ABCC6):c.2659C>T (p.Arg887Cys) rs59206042 0.00094
NM_001171.6(ABCC6):c.1059C>T (p.Ala353=) rs150016641 0.00093
NM_001171.6(ABCC6):c.2306G>A (p.Arg769Lys) rs57794451 0.00089
NM_001171.6(ABCC6):c.2904G>A (p.Leu968=) rs72664287 0.00087
NM_001171.6(ABCC6):c.1353C>T (p.Ser451=) rs57546826 0.00086
NM_001171.6(ABCC6):c.4208+8C>T rs56688069 0.00068
NM_001171.6(ABCC6):c.3978C>T (p.Asp1326=) rs57499803 0.00067
NM_001171.6(ABCC6):c.2628C>A (p.Gly876=) rs115379860 0.00057
NM_001171.6(ABCC6):c.2359G>A (p.Val787Ile) rs72653792 0.00044
NM_001171.6(ABCC6):c.2848G>A (p.Ala950Thr) rs72657689 0.00037
NM_001171.6(ABCC6):c.1639G>A (p.Ala547Thr) rs56877937 0.00032
NM_001171.6(ABCC6):c.4473C>T (p.Gly1491=) rs141860096 0.00015
NM_001171.6(ABCC6):c.2982C>T (p.Leu994=) rs113270297 0.00008
NM_001171.6(ABCC6):c.2139C>T (p.Phe713=) rs115546382 0.00005
NM_001171.6(ABCC6):c.2397T>G (p.Gly799=) rs770859081 0.00004
NM_001171.6(ABCC6):c.179G>A (p.Arg60Gln) rs183648123 0.00003
NM_001171.6(ABCC6):c.1258C>G (p.Leu420Val) rs746428588 0.00001
GRCh37/hg19 16p13.11(chr16:16248500-16262572)x1
GRCh37/hg19 16p13.11(chr16:16300012-16315139)x3
GRCh38/hg38 16p13.11(chr16:16151468-16165427)x1
NC_000016.10:g.16223538T>C rs2141232705
NM_001171.6(ABCC6):c.1338+20C>G rs12929920
NM_001171.6(ABCC6):c.1431+11del
NM_001171.6(ABCC6):c.1636-10del rs749673884
NM_001171.6(ABCC6):c.1636-10dup
NM_001171.6(ABCC6):c.1867+60A>G rs8056103
NM_001171.6(ABCC6):c.1868-57G>A rs41278182
NM_001171.6(ABCC6):c.1868-85del rs55685226
NM_001171.6(ABCC6):c.1943+10G>C rs116092959
NM_001171.6(ABCC6):c.2400= (p.Gly800=)
NM_001171.6(ABCC6):c.2542= (p.Met848=)
NM_001171.6(ABCC6):c.2666+134del rs11295432
NM_001171.6(ABCC6):c.3159C>G (p.Asp1053Glu) rs780915265
NM_001171.6(ABCC6):c.345+12T>C rs759993107
NM_001171.6(ABCC6):c.3506+83A>C rs3213473
NM_001171.6(ABCC6):c.3735+55del rs56822940
NM_001171.6(ABCC6):c.3883-46A>G
NM_001171.6(ABCC6):c.4101G>A (p.Ser1367=)
NM_001171.6(ABCC6):c.549G>A (p.Leu183=) rs72664281

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