ClinVar Miner

Variants in gene CACNA1F 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
1034 60 1 21 19 0 2 42

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 1 6 0 0 0
likely pathogenic 6 0 2 0 0
uncertain significance 0 2 0 17 3
likely benign 0 0 17 0 15
benign 0 0 3 15 0

All variants with conflicting interpretations #

Total variants: 42
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001256789.3(CACNA1F):c.2673+3G>A rs41312124 0.04106
NM_001256789.3(CACNA1F):c.1523G>A (p.Arg508Gln) rs34162630 0.01756
NM_001256789.3(CACNA1F):c.1870G>A (p.Val624Ile) rs141010716 0.00227
NM_001256789.3(CACNA1F):c.5700T>C (p.Phe1900=) rs143269092 0.00227
NM_001256789.3(CACNA1F):c.3651C>T (p.Val1217=) rs150205903 0.00216
NM_001256789.3(CACNA1F):c.3439-18C>T rs199764042 0.00179
NM_001256789.3(CACNA1F):c.5577C>T (p.Gly1859=) rs141521080 0.00088
NM_001256789.3(CACNA1F):c.2764G>A (p.Gly922Ser) rs149685267 0.00086
NM_001256789.3(CACNA1F):c.3930C>A (p.Ile1310=) rs144131971 0.00064
NM_001256789.3(CACNA1F):c.3741C>T (p.Asp1247=) rs199504022 0.00043
NM_001256789.3(CACNA1F):c.904C>T (p.Arg302Cys) rs139612152 0.00032
NM_001256789.3(CACNA1F):c.5763G>A (p.Thr1921=) rs190606884 0.00027
NM_001256789.3(CACNA1F):c.3236+3G>A rs199932603 0.00019
NM_001256789.3(CACNA1F):c.761T>C (p.Ile254Thr) rs202029187 0.00018
NM_001256789.3(CACNA1F):c.2635G>A (p.Ala879Thr) rs782464083 0.00014
NM_001256789.3(CACNA1F):c.3833G>A (p.Arg1278His) rs782330306 0.00014
NM_001256789.3(CACNA1F):c.5827G>A (p.Asp1943Asn) rs374663693 0.00009
NM_001256789.3(CACNA1F):c.1156G>A (p.Gly386Arg) rs782315613 0.00007
NM_001256789.3(CACNA1F):c.1382C>T (p.Ala461Val) rs2272704 0.00006
NM_001256789.3(CACNA1F):c.2777G>A (p.Arg926His) rs782092924 0.00005
NM_001256789.3(CACNA1F):c.5232G>A (p.Arg1744=) rs782598962 0.00005
NM_001256789.3(CACNA1F):c.91G>A (p.Gly31Arg) rs782426237 0.00005
NM_001256789.3(CACNA1F):c.209G>A (p.Arg70Gln) rs781923569 0.00003
NM_001256789.3(CACNA1F):c.393G>A (p.Glu131=) rs781861736 0.00003
NM_001256789.3(CACNA1F):c.5563G>A (p.Gly1855Ser) rs367608150 0.00003
NM_001256789.3(CACNA1F):c.2444G>T (p.Gly815Val) rs781938466 0.00002
NM_001256789.3(CACNA1F):c.5332C>T (p.Arg1778Cys) rs781892709 0.00002
NM_001256789.3(CACNA1F):c.1290C>T (p.Ala430=) rs782593082 0.00001
NM_001256789.3(CACNA1F):c.1075G>A (p.Gly359Arg) rs2147921112
NM_001256789.3(CACNA1F):c.123G>A (p.Gly41=) rs35142387
NM_001256789.3(CACNA1F):c.2038C>T (p.Arg680Ter) rs782074040
NM_001256789.3(CACNA1F):c.2387-19del rs375791434
NM_001256789.3(CACNA1F):c.2415AGAGGAAGA[2] (p.Glu812_Glu814del) rs59355923
NM_001256789.3(CACNA1F):c.2415AGAGGAAGA[4] (p.Glu812_Glu814dup) rs59355923
NM_001256789.3(CACNA1F):c.245G>A (p.Arg82Gln) rs2065880189
NM_001256789.3(CACNA1F):c.3019G>A (p.Gly1007Arg) rs1249437161
NM_001256789.3(CACNA1F):c.3020G>A (p.Gly1007Glu) rs1064794711
NM_001256789.3(CACNA1F):c.3133dup (p.Leu1045fs) rs80359870
NM_001256789.3(CACNA1F):c.3236+1G>A rs1064797371
NM_001256789.3(CACNA1F):c.4180G>A (p.Gly1394Ser) rs35212576
NM_001256789.3(CACNA1F):c.5004_5005del (p.Leu1670fs) rs1557105474
NM_001256789.3(CACNA1F):c.946TTC[2] (p.Phe318del) rs1557110499

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