ClinVar Miner

List of variants in gene ABCC6 reported by PXE International

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 369
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HGVS dbSNP
NM_001171.5(ABCC6):c.*17G>A rs3902401
NM_001171.5(ABCC6):c.*38G>A rs59461468
NM_001171.5(ABCC6):c.105delA (p.Val37Serfs) rs72664223
NM_001171.5(ABCC6):c.1064T>G (p.Leu355Arg) rs72653758
NM_001171.5(ABCC6):c.1077A>G (p.Ser359=) rs72664283
NM_001171.5(ABCC6):c.1087C>T (p.Gln363Ter) rs72650698
NM_001171.5(ABCC6):c.1088_1120del33 (p.Gln363_Arg373del) rs387906353
NM_001171.5(ABCC6):c.1091C>G (p.Thr364Arg) rs72653759
NM_001171.5(ABCC6):c.1091_1338+3149del
NM_001171.5(ABCC6):c.1108A>G (p.Asn370Asp) rs72653760
NM_001171.5(ABCC6):c.1132C>T (p.Gln378Ter) rs72650699
NM_001171.5(ABCC6):c.1133A>C (p.Gln378Pro) rs1555518390
NM_001171.5(ABCC6):c.113G>C (p.Trp38Ser) rs72653752
NM_001171.5(ABCC6):c.1141T>C (p.Leu381=) rs72664284
NM_001171.5(ABCC6):c.1144C>T (p.Arg382Trp) rs72653761
NM_001171.5(ABCC6):c.1171A>G (p.Arg391Gly) rs72653762
NM_001171.5(ABCC6):c.1176+6C>T rs72664295
NM_001171.5(ABCC6):c.1176G>C (p.Lys392Asn) rs72653763
NM_001171.5(ABCC6):c.1177_1338del162 (p.Val393_Gln446del) rs1555517253
NM_001171.5(ABCC6):c.118C>T (p.Pro40Ser) rs778544828
NM_001171.5(ABCC6):c.1192A>G (p.Ser398Gly) rs72653764
NM_001171.5(ABCC6):c.1194C>G (p.Ser398Arg) rs376518465
NM_001171.5(ABCC6):c.1199C>T (p.Ser400Phe) rs747386965
NM_001171.5(ABCC6):c.11C>A (p.Pro4His) rs1555523872
NM_001171.5(ABCC6):c.1233T>G (p.Asn411Lys) rs9930886
NM_001171.5(ABCC6):c.1244T>C (p.Val415Ala) rs72653765
NM_001171.5(ABCC6):c.1245G>A (p.Val415=) rs9940825
NM_001171.5(ABCC6):c.1256G>A (p.Arg419Gln) rs772434460
NM_001171.5(ABCC6):c.1258C>G (p.Leu420Val) rs746428588
NM_001171.5(ABCC6):c.130C>G (p.Leu44Val) rs940803158
NM_001171.5(ABCC6):c.1318T>G (p.Cys440Gly) rs72653766
NM_001171.5(ABCC6):c.1338+20C>G rs12929920
NM_001171.5(ABCC6):c.1338+7C>G rs9940089
NM_001171.5(ABCC6):c.1363G>C (p.Ala455Pro) rs67996819
NM_001171.5(ABCC6):c.1388T>A (p.Leu463His) rs72653767
NM_001171.5(ABCC6):c.1396A>T (p.Asn466Tyr) rs1555515781
NM_001171.5(ABCC6):c.1432-22C>A rs72664297
NM_001171.5(ABCC6):c.144_795-3del
NM_001171.5(ABCC6):c.1460G>A (p.Arg487Gln) rs72653768
NM_001171.5(ABCC6):c.1465C>T (p.Arg489Trp) rs754360599
NM_001171.5(ABCC6):c.1484T>A (p.Leu495His) rs72653769
NM_001171.5(ABCC6):c.1491C>A (p.Asn497Lys) rs72653770
NM_001171.5(ABCC6):c.1498A>C (p.Thr500Pro) rs1555514945
NM_001171.5(ABCC6):c.1505A>T (p.Lys502Met) rs72653771
NM_001171.5(ABCC6):c.1519G>T (p.Glu507Ter) rs368017088
NM_001171.5(ABCC6):c.1519del (p.Glu507Argfs) rs1555514927
NM_001171.5(ABCC6):c.1526C>G (p.Ala509Gly) rs779408186
NM_001171.5(ABCC6):c.1540G>A (p.Val514Ile) rs59157279
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.1563G>C (p.Glu521Asp) rs1555514899
NM_001171.5(ABCC6):c.1565T>C (p.Leu522Pro) rs1555514895
NM_001171.5(ABCC6):c.1574_1575insG (p.Arg526Alafs) rs72664217
NM_001171.5(ABCC6):c.1589T>C (p.Leu530Pro) rs774648925
NM_001171.5(ABCC6):c.1603T>C (p.Ser535Pro) rs72653773
NM_001171.5(ABCC6):c.1635+1G>T rs1264741133
NM_001171.5(ABCC6):c.1652T>C (p.Phe551Ser) rs72653774
NM_001171.5(ABCC6):c.1674delC (p.Glu559Argfs) rs1313008538
NM_001171.5(ABCC6):c.1685T>C (p.Met562Thr) rs72653775
NM_001171.5(ABCC6):c.1703T>C (p.Phe568Ser) rs66864704
NM_001171.5(ABCC6):c.1712_1713del (p.Leu571Hisfs) rs1555514467
NM_001171.5(ABCC6):c.1734_1742delCAAGGCCCAinsG (p.Asn578Lysfs) rs1555514439
NM_001171.5(ABCC6):c.175_179del (p.Arg60Leufs) rs1555523438
NM_001171.5(ABCC6):c.1780-2A>G rs1555514089
NM_001171.5(ABCC6):c.1781C>T (p.Ala594Val) rs72653776
NM_001171.5(ABCC6):c.1798C>T (p.Arg600Cys) rs72653777
NM_001171.5(ABCC6):c.1799G>T (p.Arg600Leu) rs761433545
NM_001171.5(ABCC6):c.179_187delGGGGCTACC (p.Arg60_Tyr62del) rs74315110
NM_001171.5(ABCC6):c.179_195del (p.Arg60Leufs) rs1555523429
NM_001171.5(ABCC6):c.1814T>C (p.Leu605Pro) rs768271196
NM_001171.5(ABCC6):c.182G>A (p.Gly61Asp) rs72657696
NM_001171.5(ABCC6):c.1841T>C (p.Val614Ala) rs12931472
NM_001171.5(ABCC6):c.1857_1858insC (p.Ser620Leufs) rs72664218
NM_001171.5(ABCC6):c.1868-5T>G rs72664207
NM_001171.5(ABCC6):c.1868-?_1943+?del
NM_001171.5(ABCC6):c.1890C>G (p.Thr630=) rs8058696
NM_001171.5(ABCC6):c.1892_1943+26del78 rs1555513581
NM_001171.5(ABCC6):c.1896C>A (p.His632Gln) rs8058694
NM_001171.5(ABCC6):c.1901C>T (p.Ala634Val) rs1555513604
NM_001171.5(ABCC6):c.191G>A (p.Arg64Gln) rs777566074
NM_001171.5(ABCC6):c.1944-1G>C rs1438851867
NM_001171.5(ABCC6):c.1944_1965del22 (p.Ile649Alafs) rs74315158
NM_001171.5(ABCC6):c.1964A>G (p.Gln655Arg) rs72653779
NM_001171.5(ABCC6):c.1967_1989del (p.Gly656Alafs) rs74315130
NM_001171.5(ABCC6):c.1978del (p.Ala660Leufs) rs1555513222
NM_001171.5(ABCC6):c.1987G>A (p.Gly663Ser) rs72653780
NM_001171.5(ABCC6):c.1987G>T (p.Gly663Cys) rs72653780
NM_001171.5(ABCC6):c.1990C>T (p.Pro664Ser) rs59002125
NM_001171.5(ABCC6):c.1996G>T (p.Gly666Trp) rs72653781
NM_001171.5(ABCC6):c.1999delG (p.Ala667Glnfs) rs72664227
NM_001171.5(ABCC6):c.2018T>C (p.Leu673Pro) rs67470842
NM_001171.5(ABCC6):c.2030T>C (p.Leu677Pro) rs72653782
NM_001171.5(ABCC6):c.2070+5G>A rs72664208
NM_001171.5(ABCC6):c.2093A>C (p.Gln698Pro) rs72653783
NM_001171.5(ABCC6):c.2097G>T (p.Glu699Asp) rs72653784
NM_001171.5(ABCC6):c.2125G>A (p.Glu709Lys) rs114303883
NM_001171.5(ABCC6):c.2125G>T (p.Glu709Ter) rs114303883
NM_001171.5(ABCC6):c.2126A>G (p.Glu709Gly) rs1555513103
NM_001171.5(ABCC6):c.2153A>G (p.Asp718Gly) rs1357894483
NM_001171.5(ABCC6):c.2162G>A (p.Trp721Ter) rs72650701
NM_001171.5(ABCC6):c.2170_2173del (p.Arg724Tyrfs) rs1555513085
NM_001171.5(ABCC6):c.2171G>A (p.Arg724Lys) rs58073789
NM_001171.5(ABCC6):c.2175A>T (p.Val725=) rs59757815
NM_001171.5(ABCC6):c.2177T>C (p.Leu726Pro) rs72653785
NM_001171.5(ABCC6):c.220-1G>C rs72664203
NM_001171.5(ABCC6):c.220_222del (p.Val74del) rs72664225
NM_001171.5(ABCC6):c.2224A>G (p.Ile742Val) rs59593133
NM_001171.5(ABCC6):c.2230A>C (p.Thr744Pro) rs1555513073
NM_001171.5(ABCC6):c.2237_2238ins10 (p.?)
NM_001171.5(ABCC6):c.2245C>T (p.Gln749Ter) rs66616070
NM_001171.5(ABCC6):c.2247+22T>G rs72664298
NM_001171.5(ABCC6):c.2248-12_2248-11delTT rs111113623
NM_001171.5(ABCC6):c.2248-2_2248-1delAG rs111113624
NM_001171.5(ABCC6):c.2248G>A (p.Gly750Ser) rs1192373126
NM_001171.5(ABCC6):c.2252T>A (p.Met751Lys) rs72653786
NM_001171.5(ABCC6):c.2258T>C (p.Leu753Pro) rs1555512484
NM_001171.5(ABCC6):c.2263G>A (p.Gly755Arg) rs72653787
NM_001171.5(ABCC6):c.2278C>T (p.Arg760Trp) rs72653788
NM_001171.5(ABCC6):c.2279G>A (p.Arg760Gln) rs769405586
NM_001171.5(ABCC6):c.2293C>T (p.Arg765Trp) rs776513864
NM_001171.5(ABCC6):c.2294G>A (p.Arg765Gln) rs67561842
NM_001171.5(ABCC6):c.2297C>A (p.Ala766Asp) rs72653789
NM_001171.5(ABCC6):c.2304C>A (p.Tyr768Ter) rs66492417
NM_001171.5(ABCC6):c.2306G>A (p.Arg769Lys) rs57794451
NM_001171.5(ABCC6):c.2322delC (p.Leu775Cysfs) rs72664229
NM_001171.5(ABCC6):c.2329G>A (p.Asp777Asn) rs72653790
NM_001171.5(ABCC6):c.232G>A (p.Ala78Thr) rs2856597
NM_001171.5(ABCC6):c.2342C>T (p.Ala781Val) rs72653791
NM_001171.5(ABCC6):c.2359G>T (p.Val787Phe) rs72653792
NM_001171.5(ABCC6):c.2379C>G (p.Asn793Lys) rs1555512420
NM_001171.5(ABCC6):c.2383del (p.Val795Serfs) rs1555512419
NM_001171.5(ABCC6):c.2387T>C (p.Ile796Thr) rs776463091
NM_001171.5(ABCC6):c.2416-2_2416-1delAG rs111113625
NM_001171.5(ABCC6):c.2419C>G (p.Arg807Gly) rs72653793
NM_001171.5(ABCC6):c.2419C>T (p.Arg807Trp) rs72653793
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.2432C>G (p.Thr811Arg) rs72653796
NM_001171.5(ABCC6):c.2432C>T (p.Thr811Met) rs72653796
NM_001171.5(ABCC6):c.2458G>C (p.Ala820Pro) rs72653797
NM_001171.5(ABCC6):c.2477T>C (p.Leu826Pro) rs72653798
NM_001171.5(ABCC6):c.2488G>C (p.Ala830Pro) rs1555512158
NM_001171.5(ABCC6):c.2490C>T (p.Ala830=) rs9924755
NM_001171.5(ABCC6):c.2501T>C (p.Met834Thr) rs1355752953
NM_001171.5(ABCC6):c.2511C>A (p.Tyr837Ter) rs72650702
NM_001171.5(ABCC6):c.2524C>T (p.Gln842Ter) rs72653703
NM_001171.5(ABCC6):c.2542delG (p.Val848Cysfs) rs67867306
NM_001171.5(ABCC6):c.2552T>C (p.Leu851Pro) rs72653799
NM_001171.5(ABCC6):c.2631C>A (p.Thr877=) rs72664285
NM_001171.5(ABCC6):c.2643G>T (p.Arg881Ser) rs72653800
NM_001171.5(ABCC6):c.2659C>T (p.Arg887Cys) rs59206042
NM_001171.5(ABCC6):c.2678C>G (p.Ser893Ter) rs1481200467
NM_001171.5(ABCC6):c.268G>A (p.Ala90Thr) rs957828732
NM_001171.5(ABCC6):c.26C>A (p.Ala9Glu) rs1555523855
NM_001171.5(ABCC6):c.2784C>T (p.Gly928=) rs749125777
NM_001171.5(ABCC6):c.2784_2787del4 (p.Arg929Terfs) rs765405352
NM_001171.5(ABCC6):c.2787+1G>T rs72664209
NM_001171.5(ABCC6):c.280del (p.Ile94Serfs) rs1555522997
NM_001171.5(ABCC6):c.2814C>G (p.Tyr938Ter) rs72653704
NM_001171.5(ABCC6):c.2820T>G (p.Arg940=) rs72664286
NM_001171.5(ABCC6):c.2820_2821insC (p.Ala941Argfs) rs72664219
NM_001171.5(ABCC6):c.2831C>T (p.Thr944Ile) rs72653801
NM_001171.5(ABCC6):c.2835C>T (p.Pro945=) rs2856585
NM_001171.5(ABCC6):c.2835_2850del16 (p.Leu946Serfs) rs74315152
NM_001171.5(ABCC6):c.2836C>A (p.Leu946Ile) rs61340537
NM_001171.5(ABCC6):c.2843T>C (p.Leu948Pro) rs1555510407
NM_001171.5(ABCC6):c.2848G>A (p.Ala950Thr) rs72657689
NM_001171.5(ABCC6):c.2855T>G (p.Phe952Cys) rs72657690
NM_001171.5(ABCC6):c.2858T>A (p.Leu953His) rs72657700
NM_001171.5(ABCC6):c.2861_2866delTCCTCT (p.Phe954_Leu955del) rs767359198
NM_001171.5(ABCC6):c.2891G>C (p.Arg964Pro) rs72657691
NM_001171.5(ABCC6):c.2904G>A (p.Leu968=) rs72664287
NM_001171.5(ABCC6):c.2911T>C (p.Trp971Arg) rs1555510357
NM_001171.5(ABCC6):c.2943G>T (p.Gln981His) rs368465318
NM_001171.5(ABCC6):c.2974G>A (p.Gly992Arg) rs72657692
NM_001171.5(ABCC6):c.2974G>C (p.Gly992Arg) rs72657692
NM_001171.5(ABCC6):c.2996-1724_4209-478del
NM_001171.5(ABCC6):c.2996-?_4208+?del
NM_001171.5(ABCC6):c.3032T>C (p.Leu1011Pro) rs1555509515
NM_001171.5(ABCC6):c.3074T>C (p.Leu1025Pro) rs1555509499
NM_001171.5(ABCC6):c.3088C>T (p.Arg1030Ter) rs72653705
NM_001171.5(ABCC6):c.3106_3108delTTT (p.Phe1036del) rs72664230
NM_001171.5(ABCC6):c.3119C>T (p.Pro1040Leu) rs1555509485
NM_001171.5(ABCC6):c.3124G>A (p.Gly1042Ser) rs1555509477
NM_001171.5(ABCC6):c.3143_3145delTCT (p.Phe1048del) rs769437554
NM_001171.5(ABCC6):c.3145T>G (p.Ser1049Ala) rs72657693
NM_001171.5(ABCC6):c.3168C>A (p.Asp1056Glu) rs72657694
NM_001171.5(ABCC6):c.3188T>C (p.Leu1063Pro) rs72657695
NM_001171.5(ABCC6):c.3188T>G (p.Leu1063Arg) rs72657695
NM_001171.5(ABCC6):c.3190C>T (p.Arg1064Trp) rs41278174
NM_001171.5(ABCC6):c.3207C>A (p.Tyr1069Ter) rs60975032
NM_001171.5(ABCC6):c.3208G>C (p.Ala1070Pro) rs369518454
NM_001171.5(ABCC6):c.3306+5G>C rs369806278
NM_001171.5(ABCC6):c.3307-1006_3882+1582del
NM_001171.5(ABCC6):c.3307-38_3307-3delinsAGA rs1555508993
NM_001171.5(ABCC6):c.3307-?_3735+?del
NM_001171.5(ABCC6):c.3307-?_3882+?del
NM_001171.5(ABCC6):c.333G>A (p.Trp111Ter) rs1002088882
NM_001171.5(ABCC6):c.333dup (p.Leu112Alafs) rs1555522983
NM_001171.5(ABCC6):c.3340C>T (p.Arg1114Cys) rs63749794
NM_001171.5(ABCC6):c.3341G>A (p.Arg1114His) rs63750427
NM_001171.5(ABCC6):c.3341G>C (p.Arg1114Pro) rs63750427
NM_001171.5(ABCC6):c.3343_3345del (p.Leu1115del) rs72664231
NM_001171.5(ABCC6):c.3362C>G (p.Ser1121Trp) rs63750987
NM_001171.5(ABCC6):c.3362C>T (p.Ser1121Leu) rs63750987
NM_001171.5(ABCC6):c.3364delT (p.Ser1122Leufs) rs72664232
NM_001171.5(ABCC6):c.3370T>C (p.Cys1124Arg) rs1555508972
NM_001171.5(ABCC6):c.3380T>C (p.Met1127Thr) rs63749998
NM_001171.5(ABCC6):c.3381G>A (p.Met1127Ile) rs63750758
NM_001171.5(ABCC6):c.3389C>T (p.Thr1130Met) rs63750459
NM_001171.5(ABCC6):c.3397G>T (p.Gly1133Cys) rs63749807
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.3413G>C (p.Arg1138Pro) 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.3427C>T (p.Gln1143Ter) rs72653743
NM_001171.5(ABCC6):c.345+26C>T rs56019914
NM_001171.5(ABCC6):c.346-6G>A rs55778939
NM_001171.5(ABCC6):c.3475A>G (p.Arg1159Gly) rs772050759
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.3505_3506+2del rs72664211
NM_001171.5(ABCC6):c.3506+15G>A rs72664302
NM_001171.5(ABCC6):c.3507-16T>C rs3213471
NM_001171.5(ABCC6):c.3507-1G>A rs72664210
NM_001171.5(ABCC6):c.3507-3C>T rs41278172
NM_001171.5(ABCC6):c.3544dup (p.Leu1182Profs) rs1555508630
NM_001171.5(ABCC6):c.36+1G>T rs1555523841
NM_001171.5(ABCC6):c.3608G>A (p.Gly1203Asp) rs63750607
NM_001171.5(ABCC6):c.3633+1G>A rs1555508604
NM_001171.5(ABCC6):c.3634-3C>A rs72664212
NM_001171.5(ABCC6):c.3661C>T (p.Arg1221Cys) rs63751215
NM_001171.5(ABCC6):c.3662G>A (p.Arg1221His) rs63751001
NM_001171.5(ABCC6):c.3668G>A (p.Trp1223Ter) rs72653745
NM_001171.5(ABCC6):c.3676C>A (p.Leu1226Ile) rs63750125
NM_001171.5(ABCC6):c.3692_3693insTT (p.Ser1232Cysfs) rs779018991
NM_001171.5(ABCC6):c.37-1G>A rs72657702
NM_001171.5(ABCC6):c.37-21_37-12del10 rs1555523540
NM_001171.5(ABCC6):c.3703C>T (p.Arg1235Trp) rs63750402
NM_001171.5(ABCC6):c.3709C>T (p.Gln1237Ter) rs72653746
NM_001171.5(ABCC6):c.3712G>C (p.Asp1238His) rs63749796
NM_001171.5(ABCC6):c.3715T>C (p.Tyr1239His) rs63749992
NM_001171.5(ABCC6):c.3717T>G (p.Tyr1239Ter) rs72653747
NM_001171.5(ABCC6):c.3722G>A (p.Trp1241Ter) rs72653748
NM_001171.5(ABCC6):c.3723G>C (p.Trp1241Cys) rs72657701
NM_001171.5(ABCC6):c.3735G>A (p.Glu1245=) rs281865557
NM_001171.5(ABCC6):c.3735G>T (p.Glu1245Asp) rs281865557
NM_001171.5(ABCC6):c.3736-1G>A rs63750273
NM_001171.5(ABCC6):c.373G>A (p.Glu125Lys) rs879956688
NM_001171.5(ABCC6):c.373G>T (p.Glu125Ter) rs879956688
NM_001171.5(ABCC6):c.3774dupC (p.Trp1259Leufs) rs72664220
NM_001171.5(ABCC6):c.3775_3776insC (p.Trp1259Serfs) rs1555507927
NM_001171.5(ABCC6):c.3775delT (p.Trp1259Glyfs) rs72664233
NM_001171.5(ABCC6):c.3777G>A (p.Trp1259Ter) rs1555507925
NM_001171.5(ABCC6):c.3787G>A (p.Gly1263Arg) rs760376992
NM_001171.5(ABCC6):c.3790C>T (p.Gln1264Ter) rs1311228469
NM_001171.5(ABCC6):c.3798delG (p.Glu1266Aspfs) rs72664234
NM_001171.5(ABCC6):c.3803G>A (p.Arg1268Gln) rs2238472
NM_001171.5(ABCC6):c.3816_3828dup (p.Glu1277Lysfs) rs1555507903
NM_001171.5(ABCC6):c.3818G>A (p.Arg1273Lys) rs63750209
NM_001171.5(ABCC6):c.3821_3868del48 (p.Arg1275_His1290del) rs74315128
NM_001171.5(ABCC6):c.3823C>T (p.Arg1275Ter) rs72653749
NM_001171.5(ABCC6):c.3866_3869dup (p.Ala1291Profs) rs1555507893
NM_001171.5(ABCC6):c.386G>A (p.Gly129Glu) rs72653753
NM_001171.5(ABCC6):c.3871G>A (p.Ala1291Thr) rs58694313
NM_001171.5(ABCC6):c.3876_3882+1del rs1297171898
NM_001171.5(ABCC6):c.3877G>A (p.Glu1293Lys) rs63750625
NM_001171.5(ABCC6):c.3880_3882del (p.Lys1294del) rs72664235
NM_001171.5(ABCC6):c.3883-10C>G rs965791272
NM_001171.5(ABCC6):c.3883-24G>A rs59513011
NM_001171.5(ABCC6):c.3883-5G>A rs72664213
NM_001171.5(ABCC6):c.3883-6G>A rs72664214
NM_001171.5(ABCC6):c.3892G>T (p.Val1298Phe) rs63751325
NM_001171.5(ABCC6):c.3895G>A (p.Gly1299Ser) rs63750446
NM_001171.5(ABCC6):c.3902C>T (p.Thr1301Ile) rs63750494
NM_001171.5(ABCC6):c.3904G>A (p.Gly1302Arg) rs63749856
NM_001171.5(ABCC6):c.3907G>C (p.Ala1303Pro) rs63750410
NM_001171.5(ABCC6):c.3912delG (p.Lys1305Serfs) rs72664236
NM_001171.5(ABCC6):c.3919T>C (p.Ser1307Pro) rs63751318
NM_001171.5(ABCC6):c.3932G>A (p.Gly1311Glu) rs63750992
NM_001171.5(ABCC6):c.3940C>T (p.Arg1314Trp) rs63750759
NM_001171.5(ABCC6):c.3941G>A (p.Arg1314Gln) rs63751086
NM_001171.5(ABCC6):c.3953C>G (p.Ala1318Gly) rs780887287
NM_001171.5(ABCC6):c.3961G>A (p.Gly1321Ser) rs63749823
NM_001171.5(ABCC6):c.3971G>A (p.Trp1324Ter) rs72653750
NM_001171.5(ABCC6):c.3976G>T (p.Asp1326Tyr) rs766105758
NM_001171.5(ABCC6):c.3978C>T (p.Asp1326=) rs57499803
NM_001171.5(ABCC6):c.3999G>A (p.Val1333=) rs63750235
NM_001171.5(ABCC6):c.4004T>A (p.Leu1335Gln) rs63750414
NM_001171.5(ABCC6):c.4004T>C (p.Leu1335Pro) rs63750414
NM_001171.5(ABCC6):c.4015C>T (p.Arg1339Cys) rs28939702
NM_001171.5(ABCC6):c.4016G>A (p.Arg1339His) rs63750622
NM_001171.5(ABCC6):c.4016G>T (p.Arg1339Leu) rs63750622
NM_001171.5(ABCC6):c.4025T>C (p.Ile1342Thr) rs63750608
NM_001171.5(ABCC6):c.4036C>T (p.Pro1346Ser) rs63751112
NM_001171.5(ABCC6):c.4041G>C (p.Gln1347His) rs63751111
NM_001171.5(ABCC6):c.4048A>C (p.Ile1350Leu) rs72664288
NM_001171.5(ABCC6):c.4060G>C (p.Gly1354Arg) rs63750018
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.4104delC (p.Asp1368Glufs) rs72664237
NM_001171.5(ABCC6):c.4182G>A (p.Lys1394=) rs63750798
NM_001171.5(ABCC6):c.4182delG (p.Lys1394Asnfs) rs67791546
NM_001171.5(ABCC6):c.4189G>A (p.Asp1397Asn) rs749035807
NM_001171.5(ABCC6):c.4192C>T (p.Arg1398Ter) rs66913554
NM_001171.5(ABCC6):c.4198G>A (p.Glu1400Lys) rs63751241
NM_001171.5(ABCC6):c.4208+9G>A rs58760581
NM_001171.5(ABCC6):c.4209-2A>C rs1555506740
NM_001171.5(ABCC6):c.4209C>A (p.Ser1403Arg) rs63750700
NM_001171.5(ABCC6):c.4213G>A (p.Gly1405Ser) rs947230593
NM_001171.5(ABCC6):c.4216C>A (p.Gln1406Lys) rs387906859
NM_001171.5(ABCC6):c.4219_4220insAGAA (p.Gln1408Lysfs) rs72664222
NM_001171.5(ABCC6):c.4241G>A (p.Arg1414His) rs775319351
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.4254del (p.Lys1419Argfs) rs1448934731
NM_001171.5(ABCC6):c.4271T>C (p.Ile1424Thr) rs63750295
NM_001171.5(ABCC6):c.4305C>T (p.Gly1435=) rs72664289
NM_001171.5(ABCC6):c.4306_4312del (p.Thr1436Cysfs) rs74315109
NM_001171.5(ABCC6):c.4318delA (p.Met1440Cysfs) rs72664238
NM_001171.5(ABCC6):c.4324G>A (p.Ala1442Thr) rs1462269230
NM_001171.5(ABCC6):c.4335delG (p.Ser1446Alafs) rs72664239
NM_001171.5(ABCC6):c.4341G>A (p.Trp1447Ter) rs1333662666
NM_001171.5(ABCC6):c.4377C>T (p.Arg1459=) rs63750763
NM_001171.5(ABCC6):c.4381C>T (p.Arg1461Cys) rs1030872147
NM_001171.5(ABCC6):c.4403+11C>G rs72664215
NM_001171.5(ABCC6):c.4403+1G>T rs1006994885
NM_001171.5(ABCC6):c.4420A>T (p.Lys1474Ter) rs72653751
NM_001171.5(ABCC6):c.4434delA (p.Glu1479Argfs) rs72664280
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.4501G>A (p.Gly1501Ser) rs63750874
NM_001171.5(ABCC6):c.46C>T (p.Gln16Ter) rs1555523535
NM_001171.5(ABCC6):c.473C>T (p.Ala158Val) rs2606921
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.549G>A (p.Leu183=) rs72664281
NM_001171.5(ABCC6):c.595C>T (p.Gln199Ter) rs1474063386
NM_001171.5(ABCC6):c.600+1G>A rs1187315015
NM_001171.5(ABCC6):c.600+23C>T rs72664290
NM_001171.5(ABCC6):c.601-2A>G rs1555520991
NM_001171.5(ABCC6):c.619G>A (p.Gly207Arg) rs72657697
NM_001171.5(ABCC6):c.61C>T (p.Pro21Ser) rs1235912910
NM_001171.5(ABCC6):c.645G>A (p.Thr215=) rs72664282
NM_001171.5(ABCC6):c.654G>T (p.Trp218Cys) rs72653754
NM_001171.5(ABCC6):c.662+12C>T rs1555520951
NM_001171.5(ABCC6):c.676G>A (p.Gly226Arg) rs72653755
NM_001171.5(ABCC6):c.681C>G (p.Tyr227Ter) rs1315925055
NM_001171.5(ABCC6):c.708_709dup (p.Trp237Serfs) rs1343632105
NM_001171.5(ABCC6):c.713C>A (p.Ser238Ter) rs763591743
NM_001171.5(ABCC6):c.724G>T (p.Glu242Ter) rs72650697
NM_001171.5(ABCC6):c.742C>T (p.Leu248Phe) rs72653756
NM_001171.5(ABCC6):c.754C>T (p.Leu252Phe) rs72653757
NM_001171.5(ABCC6):c.766T>C (p.Trp256Arg) rs1555520136
NM_001171.5(ABCC6):c.793A>G (p.Arg265Gly) rs72657698
NM_001171.5(ABCC6):c.795-131_795-3del rs1555518941
NM_001171.5(ABCC6):c.841A>G (p.Lys281Glu) rs879274205
NM_001171.5(ABCC6):c.855C>T (p.Thr285=) rs4780605
NM_001171.5(ABCC6):c.865_889del (p.Leu289Alafs) rs74315139
NM_001171.5(ABCC6):c.938_939insT (p.Thr315Aspfs) rs72664216
NM_001171.5(ABCC6):c.951C>A (p.Ser317Arg) rs78678589
NM_001171.5(ABCC6):c.951C>G (p.Ser317Arg) rs78678589
NM_001171.5(ABCC6):c.955A>G (p.Ile319Val) rs72657699
NM_001171.5(ABCC6):c.960delC (p.Ser321Valfs) rs72664226
NM_001171.5(ABCC6):c.962del (p.Ser321Metfs) rs1555518824
NM_001171.5(ABCC6):c.998+2_998+3delTG rs72664204
NM_001171.5(ABCC6):c.998+2delT rs72664205

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