ClinVar Miner

List of variants studied for Arterial calcification, generalized, of infancy, 2

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Total variants: 77
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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.1432-48G>A rs7193932 0.95000
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.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.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.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.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.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.487G>A (p.Asp163Asn) rs192110266 0.00934
NM_001171.6(ABCC6):c.3289C>A (p.Leu1097Ile) rs60707953 0.00849
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.1171A>G (p.Arg391Gly) rs72653762 0.00459
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.3421C>T (p.Arg1141Ter) rs72653706 0.00122
NM_001171.6(ABCC6):c.2904G>A (p.Leu968=) rs72664287 0.00087
NM_001171.6(ABCC6):c.3940C>T (p.Arg1314Trp) rs63750759 0.00069
NM_001171.6(ABCC6):c.2848G>A (p.Ala950Thr) rs72657689 0.00037
NM_001171.6(ABCC6):c.1108A>G (p.Asn370Asp) rs72653760 0.00030
NM_001171.6(ABCC6):c.3892G>A (p.Val1298Ile) rs63751325 0.00029
NM_001171.6(ABCC6):c.2787+1G>T rs72664209 0.00017
NM_001171.6(ABCC6):c.2097G>T (p.Glu699Asp) rs72653784 0.00007
NM_001171.6(ABCC6):c.2294G>A (p.Arg765Gln) rs67561842 0.00006
NM_001171.6(ABCC6):c.1552C>T (p.Arg518Ter) rs72650700 0.00004
NM_001171.6(ABCC6):c.469G>A (p.Gly157Arg) rs1209940471 0.00003
NM_001171.6(ABCC6):c.3736-1G>A rs63750273 0.00001
GRCh37/hg19 16p13.11(chr16:16248791-16260443)
NM_001171.6(ABCC6):c.1214C>T (p.Ala405Val) rs115663615
NM_001171.6(ABCC6):c.1338+20C>G rs12929920
NM_001171.6(ABCC6):c.1853G>A (p.Ser618Asn)
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.2666+134del rs11295432
NM_001171.6(ABCC6):c.2836del (p.Leu946fs) rs2047000316
NM_001171.6(ABCC6):c.3506+83A>C rs3213473
NM_001171.6(ABCC6):c.3735+55del rs56822940
NM_001171.6(ABCC6):c.3952G>A (p.Ala1318Thr) rs2046496590
NM_001171.6(ABCC6):c.4151T>C (p.Val1384Ala)
NM_001171.6(ABCC6):c.4216C>A (p.Gln1406Lys) rs387906859
NM_001171.6(ABCC6):c.450dup (p.Ala151fs) rs387906860

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