ClinVar Miner

Variants with conflicting interpretations studied for Epilepsy, childhood absence, susceptibility to, 6; Hyperaldosteronism, familial, type IV

Coded as:
Minimum review status of the submission for Epilepsy, childhood absence, susceptibility to, 6; Hyperaldosteronism, familial, type IV: Collection method of the submission for Epilepsy, childhood absence, susceptibility to, 6; Hyperaldosteronism, familial, type IV:
Minimum review status of the other submission: Collection method of the other submission:
Minimum conflict level:

If a variant has more than two submissions, it may have multiple conflicts and therefore be counted in more than one conflict column. If this is the case, the "Variants with any kind of conflict" cell will be less than the sum of the conflicted variants cells to its left.

Variants with only 1 submission per condition Variants with at least 2 submissions on the same condition and no conflicts Variants with a synonymous conflict
(e.g. benign vs non-pathogenic) 		Variants with a confidence conflict
(e.g. benign vs likely benign) 		Variants with a benign or likely benign vs uncertain conflict Variants with a category conflict
(e.g. benign vs affects) 		Variants with a clinically significant conflict
(e.g. benign vs pathogenic) 		Variants with any conflict
739 141 0 47 38 0 3 88

Significance breakdown #

In the table below, cells that correspond to a term paired with itself represent synonymous conflicts, i.e. variants that have been annotated with different terms that map to the same standard term. To compare the terms that were actually submitted, check the box in the filters section at the top of this page.

All conditions
Epilepsy, childhood absence, susceptibility to, 6; Hyperaldosteronism, familial, type IV pathogenic likely pathogenic uncertain significance likely benign benign
uncertain significance 1 2 0 19 0
likely benign 0 0 19 0 37
benign 0 0 0 10 0

Condition to condition summary #

Total conditions: 4
Download table as spreadsheet
Condition Variants with only 1 submission per condition Variants with at least 2 submissions on the same condition and no conflicts Variants with a synonymous conflict
(e.g. benign vs non-pathogenic) 		Variants with a confidence conflict
(e.g. benign vs likely benign) 		Variants with a benign or likely benign vs uncertain conflict Variants with a category conflict
(e.g. benign vs affects) 		Variants with a clinically significant conflict
(e.g. benign vs pathogenic) 		Variants with any conflict
not provided 0 94 0 33 19 0 2 54
not specified 0 38 0 15 13 0 0 28
CACNA1H-related disorder 0 35 0 5 6 0 0 11
Epilepsy, childhood absence, susceptibility to, 6 0 13 0 1 2 0 1 4

All variants with conflicting interpretations #

Total variants: 88
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HGVS dbSNP gnomAD frequency
NM_021098.3(CACNA1H):c.1664C>T (p.Ala555Val) rs9924241 0.01528
NM_021098.3(CACNA1H):c.5897C>T (p.Ala1966Val) rs72552054 0.01514
NM_021098.3(CACNA1H):c.3738G>A (p.Ser1246=) rs58812334 0.01201
NM_021098.3(CACNA1H):c.6939C>T (p.Pro2313=) rs59385968 0.00957
NM_021098.3(CACNA1H):c.1120-8C>T rs59091981 0.00928
NM_021098.3(CACNA1H):c.2631C>T (p.Asp877=) rs59636120 0.00667
NM_021098.3(CACNA1H):c.6273C>T (p.Ala2091=) rs59297244 0.00610
NM_021098.3(CACNA1H):c.2881C>T (p.Leu961=) rs58615599 0.00591
NM_021098.3(CACNA1H):c.5324-4G>A rs57687113 0.00558
NM_021098.3(CACNA1H):c.5493C>T (p.Tyr1831=) rs60218977 0.00526
NM_021098.3(CACNA1H):c.4983C>A (p.Val1661=) rs61382101 0.00511
NM_021098.3(CACNA1H):c.4817C>T (p.Thr1606Met) rs59286323 0.00493
NM_021098.3(CACNA1H):c.1236C>T (p.Asn412=) rs59696308 0.00399
NM_021098.3(CACNA1H):c.270C>G (p.Arg90=) rs577235589 0.00390
NM_021098.3(CACNA1H):c.4038+12C>T rs370831984 0.00366
NM_021098.3(CACNA1H):c.4314C>T (p.Cys1438=) rs60275734 0.00345
NM_021098.3(CACNA1H):c.5445+4C>T rs147142971 0.00295
NM_021098.3(CACNA1H):c.3846-10G>A rs377030217 0.00260
NM_021098.3(CACNA1H):c.4778-14C>T rs374784679 0.00173
NM_021098.3(CACNA1H):c.6195C>T (p.Ala2065=) rs375589233 0.00169
NM_021098.3(CACNA1H):c.819C>T (p.Thr273=) rs72552033 0.00150
NM_021098.3(CACNA1H):c.6543G>A (p.Ala2181=) rs117964326 0.00118
NM_021098.3(CACNA1H):c.1059C>T (p.Asn353=) rs59310656 0.00110
NM_021098.3(CACNA1H):c.1824G>A (p.Leu608=) rs57260464 0.00096
NM_021098.3(CACNA1H):c.2310C>T (p.Gly770=) rs371026871 0.00068
NM_021098.3(CACNA1H):c.3792G>T (p.Gln1264His) rs200228767 0.00068
NM_021098.3(CACNA1H):c.4584C>T (p.Asn1528=) rs200542719 0.00066
NM_021098.3(CACNA1H):c.918C>T (p.Pro306=) rs57468015 0.00065
NM_021098.3(CACNA1H):c.1371C>T (p.Tyr457=) rs368758031 0.00056
NM_021098.3(CACNA1H):c.3589G>A (p.Glu1197Lys) rs751423106 0.00048
NM_021098.3(CACNA1H):c.6198C>T (p.Ser2066=) rs375020212 0.00048
NM_021098.3(CACNA1H):c.6222C>T (p.Phe2074=) rs373620549 0.00045
NM_021098.3(CACNA1H):c.2146G>A (p.Gly716Ser) rs187225648 0.00038
NM_021098.3(CACNA1H):c.6579G>A (p.Ser2193=) rs200017975 0.00038
NM_021098.3(CACNA1H):c.2151G>A (p.Ser717=) rs200423899 0.00034
NM_021098.3(CACNA1H):c.5988C>T (p.His1996=) rs534974071 0.00027
NM_021098.3(CACNA1H):c.1754C>T (p.Pro585Leu) rs372367313 0.00023
NM_021098.3(CACNA1H):c.1495G>A (p.Gly499Ser) rs560915333 0.00022
NM_021098.3(CACNA1H):c.2604-5C>T rs191783113 0.00017
NM_021098.3(CACNA1H):c.6545G>A (p.Arg2182His) rs200724225 0.00017
NM_021098.3(CACNA1H):c.6244C>T (p.Arg2082Trp) rs771719773 0.00016
NM_021098.3(CACNA1H):c.2583C>T (p.Asp861=) rs368201539 0.00014
NM_021098.3(CACNA1H):c.5832C>T (p.His1944=) rs372529098 0.00013
NM_021098.3(CACNA1H):c.6623C>T (p.Ala2208Val) rs777217625 0.00013
NM_021098.3(CACNA1H):c.2907+9C>T rs200631961 0.00010
NM_021098.3(CACNA1H):c.4836G>A (p.Ser1612=) rs58033848 0.00010
NM_021098.3(CACNA1H):c.3300C>T (p.Leu1100=) rs568667163 0.00009
NM_021098.3(CACNA1H):c.826C>T (p.Arg276Trp) rs199664795 0.00009
NM_021098.3(CACNA1H):c.149C>T (p.Pro50Leu) rs746716155 0.00008
NM_021098.3(CACNA1H):c.5346C>T (p.Cys1782=) rs375518094 0.00008
NM_021098.3(CACNA1H):c.3425G>A (p.Arg1142His) rs538758039 0.00007
NM_021098.3(CACNA1H):c.5512G>A (p.Val1838Ile) rs575909585 0.00007
NM_021098.3(CACNA1H):c.6199G>A (p.Val2067Ile) rs370883583 0.00007
NM_021098.3(CACNA1H):c.6385G>A (p.Glu2129Lys) rs369185359 0.00007
NM_021098.3(CACNA1H):c.4737G>A (p.Arg1579=) rs201270662 0.00006
NM_021098.3(CACNA1H):c.1768C>T (p.Arg590Trp) rs199920661 0.00005
NM_021098.3(CACNA1H):c.3110A>G (p.His1037Arg) rs752799249 0.00005
NM_021098.3(CACNA1H):c.6887C>T (p.Ser2296Phe) rs747114776 0.00005
NM_021098.3(CACNA1H):c.1430G>A (p.Arg477His) rs1325999341 0.00004
NM_021098.3(CACNA1H):c.2990C>T (p.Ala997Val) rs375023370 0.00004
NM_021098.3(CACNA1H):c.1938C>T (p.His646=) rs771171443 0.00003
NM_021098.3(CACNA1H):c.2757C>T (p.Cys919=) rs761572907 0.00003
NM_021098.3(CACNA1H):c.3311G>A (p.Arg1104Gln) rs775183925 0.00003
NM_021098.3(CACNA1H):c.4038+5C>T rs368592629 0.00003
NM_021098.3(CACNA1H):c.5209G>A (p.Ala1737Thr) rs61372944 0.00003
NM_021098.3(CACNA1H):c.6680C>T (p.Pro2227Leu) rs780870706 0.00003
NM_021098.3(CACNA1H):c.851G>A (p.Gly284Asp) rs767281564 0.00003
NM_021098.3(CACNA1H):c.3845+7C>T rs371494399 0.00002
NM_021098.3(CACNA1H):c.6119C>T (p.Pro2040Leu) rs776422410 0.00002
NM_021098.3(CACNA1H):c.2230C>T (p.Arg744Ter) rs1437449624 0.00001
NM_021098.3(CACNA1H):c.3248C>T (p.Thr1083Met) rs1064793076 0.00001
NM_021098.3(CACNA1H):c.4156G>A (p.Ala1386Thr) rs766694151 0.00001
NM_021098.3(CACNA1H):c.4350+6T>C rs367545564 0.00001
NM_021098.3(CACNA1H):c.5846A>T (p.Gln1949Leu) rs904060362 0.00001
NM_021098.3(CACNA1H):c.6027C>T (p.Leu2009=) rs766357140 0.00001
NM_021098.3(CACNA1H):c.6340A>G (p.Thr2114Ala) rs1025586071 0.00001
NM_021098.3(CACNA1H):c.6542C>T (p.Ala2181Val) rs776161185 0.00001
NM_021098.3(CACNA1H):c.844G>A (p.Glu282Lys) rs119454948 0.00001
NM_021098.3(CACNA1H):c.2254CCAGGC[4] (p.752PG[4]) rs756747669
NM_021098.3(CACNA1H):c.299+15C>G rs553478910
NM_021098.3(CACNA1H):c.3727GAC[2] (p.Asp1245del) rs780993667
NM_021098.3(CACNA1H):c.3758G>A (p.Arg1253His) rs534632699
NM_021098.3(CACNA1H):c.4038+15G>T rs375169106
NM_021098.3(CACNA1H):c.4929+8C>T rs59027578
NM_021098.3(CACNA1H):c.5217G>A (p.Leu1739=) rs370996432
NM_021098.3(CACNA1H):c.6048+17del rs3833845
NM_021098.3(CACNA1H):c.6187C>T (p.Arg2063Trp) rs373707854
NM_021098.3(CACNA1H):c.988G>A (p.Val330Met) rs752653043

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