ClinVar Miner

Variants in gene CACNA1D with conflicting interpretations

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Y axis minimum submission review status: Y axis collection method:
X axis minimum submission review status: X axis collection method:
Minimum conflict level:
Gene type:
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
1642 157 0 37 42 0 0 76

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.

pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 0 3 0 0 0
likely pathogenic 3 0 0 0 0
uncertain significance 0 0 0 42 3
likely benign 0 0 42 0 34
benign 0 0 3 34 0

All variants with conflicting interpretations #

Total variants: 76
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001128840.3(CACNA1D):c.3870+13C>G rs148858045 0.00567
NM_001128840.3(CACNA1D):c.3892C>T (p.Pro1298Ser) rs72556360 0.00534
NM_001128840.3(CACNA1D):c.954G>A (p.Ala318=) rs147336902 0.00391
NM_001128840.3(CACNA1D):c.1407C>T (p.Ser469=) rs146730044 0.00234
NM_001128840.3(CACNA1D):c.1998G>A (p.Leu666=) rs146747080 0.00183
NM_001128840.3(CACNA1D):c.6437G>A (p.Arg2146Lys) rs150838215 0.00143
NM_001128840.3(CACNA1D):c.920-13G>C rs199688715 0.00122
NM_001128840.3(CACNA1D):c.3168-6C>G rs72556355 0.00118
NM_001128840.3(CACNA1D):c.2467G>A (p.Val823Met) rs35090700 0.00107
NM_001128840.3(CACNA1D):c.1344C>T (p.Ile448=) rs145203578 0.00105
NM_001128840.3(CACNA1D):c.2805G>C (p.Leu935=) rs150266932 0.00101
NM_001128840.3(CACNA1D):c.5496C>T (p.Gly1832=) rs149746093 0.00095
NM_001128840.3(CACNA1D):c.5017G>A (p.Glu1673Lys) rs147973409 0.00073
NM_001128840.3(CACNA1D):c.2812-14G>T rs369180125 0.00052
NM_001128840.3(CACNA1D):c.6417C>T (p.Asp2139=) rs375811590 0.00043
NM_001128840.3(CACNA1D):c.1378G>A (p.Gly460Ser) rs35874056 0.00041
NM_001128840.3(CACNA1D):c.3252C>T (p.Phe1084=) rs139767790 0.00039
NM_001128840.3(CACNA1D):c.1477T>A (p.Cys493Ser) rs139380111 0.00037
NM_001128840.3(CACNA1D):c.2729G>A (p.Arg910His) rs115066564 0.00036
NM_001128840.3(CACNA1D):c.3853G>A (p.Ala1285Thr) rs144474773 0.00036
NM_001128840.3(CACNA1D):c.5296G>C (p.Ala1766Pro) rs199874790 0.00035
NM_001128840.3(CACNA1D):c.2250C>A (p.Ile750=) rs41276445 0.00034
NM_001128840.3(CACNA1D):c.2742C>T (p.Phe914=) rs147601660 0.00027
NM_001128840.3(CACNA1D):c.2552T>G (p.Leu851Trp) rs186968009 0.00026
NM_001128840.3(CACNA1D):c.4977G>A (p.Ser1659=) rs150463212 0.00025
NM_001128840.3(CACNA1D):c.3854C>T (p.Ala1285Val) rs371512946 0.00023
NM_001128840.3(CACNA1D):c.377+13T>G rs185674174 0.00021
NM_001128840.3(CACNA1D):c.3297G>A (p.Thr1099=) rs151094357 0.00019
NM_001128840.3(CACNA1D):c.3821C>T (p.Ser1274Phe) rs200382504 0.00019
NM_001128840.3(CACNA1D):c.2406+5G>A rs193270389 0.00017
NM_001128840.3(CACNA1D):c.2853C>T (p.Cys951=) rs147169370 0.00017
NM_001128840.3(CACNA1D):c.4671T>C (p.Ala1557=) rs368264655 0.00016
NM_001128840.3(CACNA1D):c.1385G>A (p.Arg462Gln) rs35057005 0.00014
NM_001128840.3(CACNA1D):c.1590C>T (p.Ile530=) rs200605154 0.00014
NM_001128840.3(CACNA1D):c.6444G>A (p.Glu2148=) rs373851693 0.00014
NM_001128840.3(CACNA1D):c.825C>T (p.Ala275=) rs193196995 0.00014
NM_001128840.3(CACNA1D):c.5971C>T (p.Arg1991Trp) rs367976757 0.00013
NM_001128840.3(CACNA1D):c.1637A>G (p.Asn546Ser) rs55797424 0.00012
NM_001128840.3(CACNA1D):c.5417A>G (p.Tyr1806Cys) rs369626956 0.00012
NM_001128840.3(CACNA1D):c.6100C>T (p.Arg2034Trp) rs142692903 0.00011
NM_001128840.3(CACNA1D):c.3115-3C>T rs779910083 0.00010
NM_001128840.3(CACNA1D):c.5165G>C (p.Ser1722Thr) rs759409255 0.00010
NM_001128840.3(CACNA1D):c.5473C>T (p.Arg1825Trp) rs144688228 0.00010
NM_001128840.3(CACNA1D):c.6101G>A (p.Arg2034Gln) rs771758707 0.00010
NM_001128840.3(CACNA1D):c.1722G>A (p.Met574Ile) rs373740752 0.00008
NM_001128840.3(CACNA1D):c.1023C>T (p.Asn341=) rs201819347 0.00006
NM_001128840.3(CACNA1D):c.2022C>G (p.Gly674=) rs574489819 0.00006
NM_001128840.3(CACNA1D):c.68-8C>T rs192959416 0.00006
NM_001128840.3(CACNA1D):c.789C>G (p.Ser263=) rs369697705 0.00006
NM_001128840.3(CACNA1D):c.962G>A (p.Gly321Glu) rs763483604 0.00006
NM_000720.4(CACNA1D):c.1127C>T (p.Ala376Val) rs759274321 0.00004
NM_001128840.3(CACNA1D):c.2069A>G (p.Asn690Ser) rs149676780 0.00004
NM_001128840.3(CACNA1D):c.5439C>T (p.Ser1813=) rs761519681 0.00004
NM_001128840.3(CACNA1D):c.6217C>T (p.Arg2073Cys) rs140215004 0.00004
NM_001128840.3(CACNA1D):c.1647T>C (p.Asp549=) rs769205525 0.00003
NM_001128840.3(CACNA1D):c.4111-8C>G rs751553150 0.00003
NM_001128840.3(CACNA1D):c.1892+3A>G rs779597807 0.00002
NM_001128840.3(CACNA1D):c.2562G>A (p.Lys854=) rs1332817040 0.00001
NM_001128840.3(CACNA1D):c.3676-6C>T rs536823643 0.00001
NM_001128840.3(CACNA1D):c.5813C>T (p.Pro1938Leu) rs770886605 0.00001
NM_001128840.3(CACNA1D):c.6393G>A (p.Gln2131=) rs200001131 0.00001
NM_001128840.3(CACNA1D):c.6395A>G (p.Asp2132Gly) rs779549091 0.00001
NM_000720.4(CACNA1D):c.1208G>A (p.Gly403Asp) rs386834264
NM_000720.4(CACNA1D):c.1208_1209insGGG (p.Gly403dup) rs398122827
NM_001128840.3(CACNA1D):c.2414T>C (p.Ile805Thr) rs147933585
NM_001128840.3(CACNA1D):c.2751+14G>T rs748663117
NM_001128840.3(CACNA1D):c.2919-6C>T
NM_001128840.3(CACNA1D):c.3279G>A (p.Ala1093=) rs36061665
NM_001128840.3(CACNA1D):c.3701A>G (p.Asn1234Ser) rs147146258
NM_001128840.3(CACNA1D):c.3789G>T (p.Gly1263=)
NM_001128840.3(CACNA1D):c.4110+19G>C rs375161264
NM_001128840.3(CACNA1D):c.5016AGA[3] (p.Glu1675del) rs778776240
NM_001128840.3(CACNA1D):c.5767_5769del (p.Phe1923del) rs72556363
NM_001128840.3(CACNA1D):c.5814G>T (p.Pro1938=) rs776968811
NM_001128840.3(CACNA1D):c.5936G>A (p.Arg1979Gln) rs143354476
NM_001128840.3(CACNA1D):c.6341G>T (p.Arg2114Leu) rs149416995

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