ClinVar Miner

List of variants reported as pathogenic for arterial calcification of infancy

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 63
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HGVS dbSNP gnomAD frequency
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.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_006208.3(ENPP1):c.913C>A (p.Pro305Thr) rs374270497 0.00010
NM_001171.6(ABCC6):c.2294G>A (p.Arg765Gln) rs67561842 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.3340C>T (p.Arg1114Cys) rs63749794 0.00004
NM_001171.6(ABCC6):c.3412C>T (p.Arg1138Trp) rs28939701 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.3662G>A (p.Arg1221His) rs63751001 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.2248-2_2248-1del rs111113624 0.00002
NM_001171.6(ABCC6):c.3491G>A (p.Arg1164Gln) rs63750457 0.00002
NM_001171.6(ABCC6):c.3507-1G>A rs72664210 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_006208.3(ENPP1):c.1441C>T (p.Arg481Trp) rs373044722 0.00001
NM_006208.3(ENPP1):c.1737G>C (p.Leu579Phe) rs121918024 0.00001
NM_006208.3(ENPP1):c.1756G>A (p.Gly586Arg) rs777367269 0.00001
NM_006208.3(ENPP1):c.2344C>T (p.Arg782Ter) rs1782357136 0.00001
GRCh37/hg19 16p13.11(chr16:16248464-16259810)
GRCh37/hg19 16p13.11(chr16:16248791-16260443)
NC_000006.12:g.131688637_132215008del
NM_001171.6(ABCC6):c.1087C>T (p.Gln363Ter) rs72650698
NM_001171.6(ABCC6):c.1674del (p.Glu559fs) rs1313008538
NM_001171.6(ABCC6):c.1999del (p.Ala667fs) rs72664227
NM_001171.6(ABCC6):c.2162G>A (p.Trp721Ter) rs72650701
NM_001171.6(ABCC6):c.3774dup (p.Trp1259fs) rs72664220
NM_001171.6(ABCC6):c.4216C>A (p.Gln1406Lys) rs387906859
NM_001171.6(ABCC6):c.450dup (p.Ala151fs) rs387906860
NM_006208.3(ENPP1):c.1025G>T (p.Gly342Val) rs121918025
NM_006208.3(ENPP1):c.1072_1082del (p.Gln358fs) rs1554203715
NM_006208.3(ENPP1):c.1094del (p.Pro365fs) rs2114706946
NM_006208.3(ENPP1):c.1112A>T (p.Tyr371Phe) rs121918026
NM_006208.3(ENPP1):c.1273+2T>C rs2114710332
NM_006208.3(ENPP1):c.1612G>C (p.Asp538His) rs387906673
NM_006208.3(ENPP1):c.196_197del (p.Ala66fs) rs2114643507
NM_006208.3(ENPP1):c.208A>T (p.Lys70Ter) rs1167413684
NM_006208.3(ENPP1):c.2101-2A>T rs1585841844
NM_006208.3(ENPP1):c.2192del (p.Asn731fs) rs2114726975
NM_006208.3(ENPP1):c.2230+1G>A
NM_006208.3(ENPP1):c.2230+5G>A
NM_006208.3(ENPP1):c.2230C>T (p.Gln744Ter) rs2114727013
NM_006208.3(ENPP1):c.2300del (p.Gln767fs) rs2114728448
NM_006208.3(ENPP1):c.2664del (p.Ile889fs) rs2114737043
NM_006208.3(ENPP1):c.2677G>T (p.Glu893Ter) rs121918023
NM_006208.3(ENPP1):c.26dup (p.Gly10fs) rs1470739291
NM_006208.3(ENPP1):c.2741T>A (p.Leu914Ter) rs751725130
NM_006208.3(ENPP1):c.511A>T (p.Lys171Ter) rs1805101
NM_006208.3(ENPP1):c.556G>C (p.Gly186Arg) rs1781877793
NM_006208.3(ENPP1):c.574del (p.Glu192fs) rs1234826768
NM_006208.3(ENPP1):c.783C>G (p.Tyr261Ter) rs267606784
NM_006208.3(ENPP1):c.795+1G>A rs753851892
NM_006208.3(ENPP1):c.797G>T (p.Gly266Val) rs121908248
NM_006208.3(ENPP1):c.878_879del (p.Lys293fs) rs1401810953
NM_006208.3(ENPP1):c.915+1G>A rs2114702198
NM_006208.3:c.(1091+1_1092-1)_(1164+1_1165-1)del

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