ClinVar Miner

Variants with conflicting interpretations studied for Idiopathic generalized epilepsy; Hyperaldosteronism, familial, type IV

Coded as:
Minimum review status of the submission for Idiopathic generalized epilepsy; Hyperaldosteronism, familial, type IV: Collection method of the submission for Idiopathic generalized epilepsy; Hyperaldosteronism, familial, type IV:
Minimum review status of the other submission: Collection method of the other submission:
Minimum conflict level:
ClinVar version:

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
2793 94 0 14 122 0 0 136

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
Idiopathic generalized epilepsy; Hyperaldosteronism, familial, type IV uncertain significance likely benign
uncertain significance 0 2
likely benign 43 0
benign 77 14

Condition to condition summary #

Total conditions: 1
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
Inborn genetic diseases 0 93 0 14 122 0 0 136

All variants with conflicting interpretations #

Total variants: 136
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_021098.3(CACNA1H):c.6622G>A (p.Ala2208Thr) rs60445853 0.00223
NM_021098.3(CACNA1H):c.4420C>T (p.Arg1474Trp) rs57105517 0.00209
NM_021098.3(CACNA1H):c.6848A>T (p.Asp2283Val) rs58597457 0.00137
NM_021098.3(CACNA1H):c.2434G>A (p.Val812Met) rs28365119 0.00128
NM_021098.3(CACNA1H):c.5924C>T (p.Ser1975Phe) rs186422070 0.00083
NM_021098.3(CACNA1H):c.1508G>A (p.Arg503His) rs201009269 0.00045
NM_021098.3(CACNA1H):c.2146G>A (p.Gly716Ser) rs187225648 0.00038
NM_021098.3(CACNA1H):c.809A>C (p.Asn270Thr) rs200520956 0.00036
NM_021098.3(CACNA1H):c.1795G>A (p.Ala599Thr) rs776370351 0.00033
NM_021098.3(CACNA1H):c.2269G>C (p.Gly757Arg) rs200813987 0.00031
NM_021098.3(CACNA1H):c.6251C>T (p.Ala2084Val) rs368835582 0.00031
NM_021098.3(CACNA1H):c.4714C>T (p.Arg1572Trp) rs199693105 0.00027
NM_021098.3(CACNA1H):c.1655G>A (p.Arg552Gln) rs568224207 0.00026
NM_021098.3(CACNA1H):c.1754C>T (p.Pro585Leu) rs372367313 0.00024
NM_021098.3(CACNA1H):c.2039G>A (p.Ser680Asn) rs371925462 0.00022
NM_021098.3(CACNA1H):c.6721G>A (p.Gly2241Arg) rs200606995 0.00022
NM_021098.3(CACNA1H):c.6625G>C (p.Ala2209Pro) rs59103647 0.00021
NM_021098.3(CACNA1H):c.1429C>T (p.Arg477Cys) rs376935647 0.00018
NM_021098.3(CACNA1H):c.6244C>T (p.Arg2082Trp) rs771719773 0.00016
NM_021098.3(CACNA1H):c.6545G>A (p.Arg2182His) rs200724225 0.00015
NM_021098.3(CACNA1H):c.1753C>T (p.Pro585Ser) rs535609762 0.00014
NM_021098.3(CACNA1H):c.2583C>T (p.Asp861=) rs368201539 0.00014
NM_021098.3(CACNA1H):c.6440C>T (p.Pro2147Leu) rs748980218 0.00013
NM_021098.3(CACNA1H):c.6229C>T (p.Arg2077Cys) rs376607278 0.00012
NM_021098.3(CACNA1H):c.2113C>T (p.Arg705Cys) rs56930579 0.00011
NM_021098.3(CACNA1H):c.4621A>G (p.Ile1541Val) rs770398676 0.00011
NM_021098.3(CACNA1H):c.5809G>A (p.Val1937Met) rs60040113 0.00011
NM_021098.3(CACNA1H):c.1309C>T (p.Arg437Trp) rs377061296 0.00010
NM_021098.3(CACNA1H):c.1610G>A (p.Arg537His) rs548407874 0.00010
NM_021098.3(CACNA1H):c.718G>A (p.Val240Ile) rs369630836 0.00008
NM_021098.3(CACNA1H):c.171G>T (p.Glu57Asp) rs539324457 0.00007
NM_021098.3(CACNA1H):c.3583C>T (p.Arg1195Trp) rs576035669 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.6611C>T (p.Ala2204Val) rs763675499 0.00007
NM_021098.3(CACNA1H):c.6817C>T (p.Leu2273Phe) rs201577113 0.00007
NM_021098.3(CACNA1H):c.1693G>A (p.Gly565Arg) rs776058661 0.00006
NM_021098.3(CACNA1H):c.1939G>A (p.Gly647Ser) rs147702970 0.00006
NM_021098.3(CACNA1H):c.3143T>C (p.Leu1048Pro) rs377549389 0.00006
NM_021098.3(CACNA1H):c.3425G>A (p.Arg1142His) rs538758039 0.00006
NM_021098.3(CACNA1H):c.3448C>T (p.Arg1150Cys) rs753993842 0.00006
NM_021098.3(CACNA1H):c.3554C>T (p.Ala1185Val) rs769568324 0.00006
NM_021098.3(CACNA1H):c.3581G>A (p.Arg1194Gln) rs759668583 0.00006
NM_021098.3(CACNA1H):c.4972A>G (p.Ile1658Val) rs375017750 0.00006
NM_021098.3(CACNA1H):c.535G>A (p.Val179Ile) rs374558503 0.00006
NM_021098.3(CACNA1H):c.5717C>T (p.Pro1906Leu) rs749054531 0.00006
NM_021098.3(CACNA1H):c.6032G>A (p.Arg2011Gln) rs554063452 0.00006
NM_021098.3(CACNA1H):c.6412G>A (p.Val2138Met) rs755669926 0.00006
NM_021098.3(CACNA1H):c.1502G>A (p.Gly501Glu) rs768197900 0.00005
NM_021098.3(CACNA1H):c.1768C>T (p.Arg590Trp) rs199920661 0.00005
NM_021098.3(CACNA1H):c.3449G>A (p.Arg1150His) rs373762102 0.00005
NM_021098.3(CACNA1H):c.740T>G (p.Val247Gly) rs200939989 0.00005
NM_021098.3(CACNA1H):c.1609C>T (p.Arg537Cys) rs528341556 0.00004
NM_021098.3(CACNA1H):c.1895C>A (p.Pro632His) rs747807971 0.00004
NM_021098.3(CACNA1H):c.1985A>G (p.His662Arg) rs768565046 0.00004
NM_021098.3(CACNA1H):c.2183A>G (p.Tyr728Cys) rs371324992 0.00004
NM_021098.3(CACNA1H):c.3338C>T (p.Pro1113Leu) rs753159318 0.00004
NM_021098.3(CACNA1H):c.3526G>A (p.Asp1176Asn) rs61294616 0.00004
NM_021098.3(CACNA1H):c.3604C>T (p.Arg1202Trp) rs372472186 0.00004
NM_021098.3(CACNA1H):c.3806G>A (p.Arg1269His) rs749122105 0.00004
NM_021098.3(CACNA1H):c.4224G>A (p.Arg1408=) rs771972820 0.00004
NM_021098.3(CACNA1H):c.5209G>A (p.Ala1737Thr) rs61372944 0.00004
NM_021098.3(CACNA1H):c.6245G>A (p.Arg2082Gln) rs772785163 0.00004
NM_021098.3(CACNA1H):c.764T>G (p.Leu255Arg) rs369329819 0.00004
NM_021098.3(CACNA1H):c.1284G>T (p.Arg428=) rs771004922 0.00003
NM_021098.3(CACNA1H):c.2228C>T (p.Thr743Met) rs574809183 0.00003
NM_021098.3(CACNA1H):c.3199G>C (p.Glu1067Gln) rs751148760 0.00003
NM_021098.3(CACNA1H):c.3263C>T (p.Pro1088Leu) rs373190026 0.00003
NM_021098.3(CACNA1H):c.3388G>A (p.Ala1130Thr) rs772745734 0.00003
NM_021098.3(CACNA1H):c.6038T>C (p.Leu2013Pro) rs905456471 0.00003
NM_021098.3(CACNA1H):c.6295G>A (p.Glu2099Lys) rs774769004 0.00003
NM_021098.3(CACNA1H):c.6662C>T (p.Pro2221Leu) rs765757800 0.00003
NM_021098.3(CACNA1H):c.6770G>A (p.Arg2257Gln) rs775972605 0.00003
NM_021098.3(CACNA1H):c.993C>A (p.Gly331=) rs770821118 0.00003
NM_021098.3(CACNA1H):c.1144G>A (p.Asp382Asn) rs375121203 0.00002
NM_021098.3(CACNA1H):c.1390G>A (p.Val464Met) rs61910721 0.00002
NM_021098.3(CACNA1H):c.1421G>A (p.Arg474His) rs769636919 0.00002
NM_021098.3(CACNA1H):c.2150C>T (p.Ser717Leu) rs768306211 0.00002
NM_021098.3(CACNA1H):c.3185C>T (p.Pro1062Leu) rs1245328322 0.00002
NM_021098.3(CACNA1H):c.3553G>A (p.Ala1185Thr) rs375742212 0.00002
NM_021098.3(CACNA1H):c.3646G>A (p.Asp1216Asn) rs754581272 0.00002
NM_021098.3(CACNA1H):c.3659A>G (p.Gln1220Arg) rs763161866 0.00002
NM_021098.3(CACNA1H):c.563T>C (p.Leu188Ser) rs767275498 0.00002
NM_021098.3(CACNA1H):c.6346G>A (p.Glu2116Lys) rs768078771 0.00002
NM_021098.3(CACNA1H):c.6398G>A (p.Arg2133His) rs752385455 0.00002
NM_021098.3(CACNA1H):c.6838C>T (p.Pro2280Ser) rs760918600 0.00002
NM_021098.3(CACNA1H):c.1607C>T (p.Pro536Leu) rs1481524583 0.00001
NM_021098.3(CACNA1H):c.1633G>A (p.Ala545Thr) rs902030420 0.00001
NM_021098.3(CACNA1H):c.1684C>G (p.Pro562Ala) rs1474486162 0.00001
NM_021098.3(CACNA1H):c.1730A>G (p.His577Arg) rs1318871844 0.00001
NM_021098.3(CACNA1H):c.1765G>A (p.Ala589Thr) rs769240762 0.00001
NM_021098.3(CACNA1H):c.1783G>A (p.Ala595Thr) rs544916201 0.00001
NM_021098.3(CACNA1H):c.1913G>T (p.Gly638Val) rs771036445 0.00001
NM_021098.3(CACNA1H):c.3314G>A (p.Arg1105His) rs764071122 0.00001
NM_021098.3(CACNA1H):c.3559G>A (p.Gly1187Arg) rs772258959 0.00001
NM_021098.3(CACNA1H):c.3563C>T (p.Pro1188Leu) rs894257173 0.00001
NM_021098.3(CACNA1H):c.5695C>T (p.Pro1899Ser) rs367594144 0.00001
NM_021098.3(CACNA1H):c.5696C>T (p.Pro1899Leu) rs750475467 0.00001
NM_021098.3(CACNA1H):c.5777C>T (p.Ser1926Leu) rs756181994 0.00001
NM_021098.3(CACNA1H):c.5797A>G (p.Met1933Val) rs59950911 0.00001
NM_021098.3(CACNA1H):c.6004G>C (p.Gly2002Arg) rs1357838162 0.00001
NM_021098.3(CACNA1H):c.6157G>C (p.Gly2053Arg) rs754154177 0.00001
NM_021098.3(CACNA1H):c.6340A>G (p.Thr2114Ala) rs1025586071 0.00001
NM_021098.3(CACNA1H):c.6474G>A (p.Ala2158=) rs747394862 0.00001
NM_021098.3(CACNA1H):c.6542C>T (p.Ala2181Val) rs776161185 0.00001
NM_021098.3(CACNA1H):c.6672G>C (p.Glu2224Asp) rs764354954 0.00001
NM_021098.3(CACNA1H):c.6787G>A (p.Val2263Ile) rs750732485 0.00001
NM_021098.3(CACNA1H):c.884G>A (p.Arg295Gln) rs749305814 0.00001
NM_021098.3(CACNA1H):c.947C>T (p.Thr316Ile) rs997846742 0.00001
NM_021098.3(CACNA1H):c.13G>A (p.Ala5Thr) rs948561024
NM_021098.3(CACNA1H):c.1535C>T (p.Ala512Val)
NM_021098.3(CACNA1H):c.1835A>C (p.Asn612Thr) rs773099504
NM_021098.3(CACNA1H):c.1918C>G (p.Pro640Ala)
NM_021098.3(CACNA1H):c.2216G>T (p.Arg739Leu) rs372759314
NM_021098.3(CACNA1H):c.2342C>A (p.Thr781Asn) rs200687647
NM_021098.3(CACNA1H):c.3091G>A (p.Glu1031Lys) rs548097951
NM_021098.3(CACNA1H):c.3218C>G (p.Ser1073Cys) rs369474500
NM_021098.3(CACNA1H):c.3757C>T (p.Arg1253Cys) rs372000875
NM_021098.3(CACNA1H):c.3884T>C (p.Met1295Thr) rs755717160
NM_021098.3(CACNA1H):c.4135A>G (p.Ile1379Val)
NM_021098.3(CACNA1H):c.4408A>G (p.Lys1470Glu)
NM_021098.3(CACNA1H):c.4772G>A (p.Ser1591Asn)
NM_021098.3(CACNA1H):c.5723C>T (p.Ala1908Val)
NM_021098.3(CACNA1H):c.5750G>A (p.Arg1917His)
NM_021098.3(CACNA1H):c.5875G>A (p.Gly1959Ser)
NM_021098.3(CACNA1H):c.5974G>A (p.Gly1992Ser) rs558813483
NM_021098.3(CACNA1H):c.5983C>T (p.Leu1995Phe) rs549364922
NM_021098.3(CACNA1H):c.6002G>A (p.Arg2001Gln) rs200399120
NM_021098.3(CACNA1H):c.6281C>G (p.Ser2094Trp) rs371550084
NM_021098.3(CACNA1H):c.6281C>T (p.Ser2094Leu) rs371550084
NM_021098.3(CACNA1H):c.6492G>C (p.Glu2164Asp)
NM_021098.3(CACNA1H):c.6643A>G (p.Thr2215Ala)
NM_021098.3(CACNA1H):c.6692C>T (p.Ser2231Phe) rs746267333
NM_021098.3(CACNA1H):c.6860G>A (p.Ser2287Asn)
NM_021098.3(CACNA1H):c.6887C>T (p.Ser2296Phe)
NM_021098.3(CACNA1H):c.7037G>C (p.Gly2346Ala) rs765057432

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