ClinVar Miner

Variants with conflicting interpretations studied for Hypokalemic periodic paralysis, type 1; Malignant hyperthermia, susceptibility to, 5; Thyrotoxic periodic paralysis, susceptibility to, 1

Coded as:
Minimum review status of the submission for Hypokalemic periodic paralysis, type 1; Malignant hyperthermia, susceptibility to, 5; Thyrotoxic periodic paralysis, susceptibility to, 1: Collection method of the submission for Hypokalemic periodic paralysis, type 1; Malignant hyperthermia, susceptibility to, 5; Thyrotoxic periodic paralysis, susceptibility to, 1:
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
0 124 0 27 81 0 5 109

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
Hypokalemic periodic paralysis, type 1; Malignant hyperthermia, susceptibility to, 5; Thyrotoxic periodic paralysis, susceptibility to, 1 pathogenic uncertain significance likely benign benign
likely pathogenic 6 5 0 0
uncertain significance 0 0 48 27
likely benign 0 6 0 19
benign 0 0 2 0

Condition to condition summary #

Total conditions: 6
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
Hypokalemic periodic paralysis, type 1; Malignant hyperthermia, susceptibility to, 5 0 134 0 20 74 0 0 94
Malignant hyperthermia, susceptibility to, 5 0 172 0 14 2 0 4 19
Thyrotoxic periodic paralysis, susceptibility to, 1 0 138 0 12 0 0 0 12
not provided 0 60 0 3 6 0 2 11
not specified 0 23 0 8 1 0 0 9
CACNA1S-related disorder 0 11 0 1 2 0 0 3

All variants with conflicting interpretations #

Total variants: 109
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000069.3(CACNA1S):c.1828-5T>C rs1998721 0.71016
NM_000069.3(CACNA1S):c.3525+18C>T rs56021911 0.01583
NM_000069.3(CACNA1S):c.5570G>A (p.Ser1857Asn) rs72749169 0.00210
NM_000069.3(CACNA1S):c.5371-19C>T rs201064986 0.00121
NM_000069.3(CACNA1S):c.165G>A (p.Thr55=) rs150520884 0.00100
NM_000069.3(CACNA1S):c.5370+10G>A rs368138384 0.00096
NM_000069.3(CACNA1S):c.900+14C>T rs377170574 0.00093
NM_000069.3(CACNA1S):c.4338+13G>T rs370782181 0.00075
NM_000069.3(CACNA1S):c.1948+10C>G rs201173419 0.00059
NM_000069.3(CACNA1S):c.1890G>A (p.Pro630=) rs141717649 0.00022
NM_000069.3(CACNA1S):c.3334T>G (p.Trp1112Gly) rs151218760 0.00019
NM_000069.3(CACNA1S):c.1143C>T (p.Phe381=) rs144883479 0.00016
NM_000069.3(CACNA1S):c.1458G>A (p.Leu486=) rs528563981 0.00016
NM_000069.3(CACNA1S):c.1777C>T (p.Arg593Trp) rs138541733 0.00016
NM_000069.3(CACNA1S):c.2593C>T (p.Arg865Cys) rs201205904 0.00016
NM_000069.3(CACNA1S):c.262A>G (p.Lys88Glu) rs140330831 0.00016
NM_000069.3(CACNA1S):c.3777G>A (p.Thr1259=) rs147646714 0.00016
NM_000069.3(CACNA1S):c.93G>C (p.Leu31Phe) rs556751671 0.00013
NM_000069.3(CACNA1S):c.4916A>T (p.Glu1639Val) rs146885451 0.00012
NM_000069.3(CACNA1S):c.1166A>T (p.Asp389Val) rs148770452 0.00011
NM_000069.3(CACNA1S):c.4818C>T (p.Gly1606=) rs146619460 0.00011
NM_000069.3(CACNA1S):c.2555C>T (p.Thr852Met) rs200334886 0.00010
NM_000069.3(CACNA1S):c.2963G>A (p.Arg988His) rs747618077 0.00010
NM_000069.3(CACNA1S):c.1348G>A (p.Ala450Thr) rs150218077 0.00009
NM_000069.3(CACNA1S):c.2467C>T (p.Arg823Trp) rs199758244 0.00009
NM_000069.3(CACNA1S):c.3067G>A (p.Ala1023Thr) rs551510986 0.00009
NM_000069.3(CACNA1S):c.2628G>T (p.Val876=) rs200898535 0.00008
NM_000069.3(CACNA1S):c.4786G>A (p.Gly1596Arg) rs751048080 0.00008
NM_000069.3(CACNA1S):c.1180G>A (p.Asp394Asn) rs112236248 0.00007
NM_000069.3(CACNA1S):c.3454A>G (p.Ile1152Val) rs142286187 0.00007
NM_000069.3(CACNA1S):c.700G>A (p.Val234Met) rs370661912 0.00007
NM_000069.3(CACNA1S):c.1345A>G (p.Ile449Val) rs369139165 0.00006
NM_000069.3(CACNA1S):c.1385G>A (p.Arg462His) rs146696298 0.00006
NM_000069.3(CACNA1S):c.1904T>C (p.Met635Thr) rs144590408 0.00006
NM_000069.3(CACNA1S):c.2630C>T (p.Ala877Val) rs200646947 0.00006
NM_000069.3(CACNA1S):c.2729G>A (p.Arg910Lys) rs375318710 0.00006
NM_000069.3(CACNA1S):c.2773A>G (p.Ile925Val) rs138708497 0.00006
NM_000069.3(CACNA1S):c.304G>A (p.Ala102Thr) rs753901380 0.00006
NM_000069.3(CACNA1S):c.3406G>A (p.Gly1136Ser) rs145039828 0.00006
NM_000069.3(CACNA1S):c.3606C>T (p.Ile1202=) rs189797100 0.00006
NM_000069.3(CACNA1S):c.4414C>T (p.Arg1472Cys) rs201257304 0.00006
NM_000069.3(CACNA1S):c.4861G>A (p.Val1621Ile) rs756066219 0.00006
NM_000069.3(CACNA1S):c.1091G>A (p.Arg364Gln) rs763360081 0.00005
NM_000069.3(CACNA1S):c.2726A>G (p.Asn909Ser) rs139935847 0.00005
NM_000069.3(CACNA1S):c.4525G>A (p.Val1509Ile) rs775885648 0.00005
NM_000069.3(CACNA1S):c.2048G>A (p.Arg683His) rs141031133 0.00004
NM_000069.3(CACNA1S):c.2380C>T (p.Arg794Cys) rs373328930 0.00004
NM_000069.3(CACNA1S):c.2667C>T (p.Ala889=) rs188071541 0.00004
NM_000069.3(CACNA1S):c.3091G>A (p.Val1031Met) rs777328046 0.00004
NM_000069.3(CACNA1S):c.3746G>A (p.Arg1249Gln) rs775009783 0.00004
NM_000069.3(CACNA1S):c.4415G>A (p.Arg1472His) rs201463541 0.00004
NM_000069.3(CACNA1S):c.4705G>A (p.Glu1569Lys) rs138768414 0.00004
NM_000069.3(CACNA1S):c.5381G>A (p.Arg1794Gln) rs139945826 0.00004
NM_000069.3(CACNA1S):c.784C>T (p.Arg262Trp) rs186538122 0.00004
NM_000069.3(CACNA1S):c.1393+11A>T rs753604199 0.00003
NM_000069.3(CACNA1S):c.2055G>C (p.Lys685Asn) rs200844059 0.00003
NM_000069.3(CACNA1S):c.225G>A (p.Pro75=) rs143816534 0.00003
NM_000069.3(CACNA1S):c.2794G>A (p.Val932Met) rs373701906 0.00003
NM_000069.3(CACNA1S):c.3013A>T (p.Met1005Leu) rs149658326 0.00003
NM_000069.3(CACNA1S):c.3113G>A (p.Arg1038His) rs774884290 0.00003
NM_000069.3(CACNA1S):c.3890G>A (p.Gly1297Glu) rs749856222 0.00003
NM_000069.3(CACNA1S):c.409G>A (p.Val137Met) rs753195502 0.00003
NM_000069.3(CACNA1S):c.1204G>T (p.Ala402Ser) rs756022224 0.00002
NM_000069.3(CACNA1S):c.1519G>A (p.Gly507Ser) rs554729466 0.00002
NM_000069.3(CACNA1S):c.1530G>T (p.Glu510Asp) rs758354862 0.00002
NM_000069.3(CACNA1S):c.253G>A (p.Gly85Ser) rs369931782 0.00002
NM_000069.3(CACNA1S):c.2838C>T (p.Gly946=) rs759934490 0.00002
NM_000069.3(CACNA1S):c.2853+18C>T rs768391679 0.00002
NM_000069.3(CACNA1S):c.3053+19C>G rs372276351 0.00002
NM_000069.3(CACNA1S):c.4501A>G (p.Thr1501Ala) rs373248127 0.00002
NM_000069.3(CACNA1S):c.5575G>A (p.Asp1859Asn) rs191263754 0.00002
NM_000069.3(CACNA1S):c.707C>T (p.Thr236Met) rs767790285 0.00002
NM_000069.3(CACNA1S):c.708G>C (p.Thr236=) rs754213830 0.00002
NM_000069.3(CACNA1S):c.835G>A (p.Gly279Ser) rs375704313 0.00002
NM_000069.3(CACNA1S):c.1234C>T (p.Arg412Ter) rs767052156 0.00001
NM_000069.3(CACNA1S):c.1369C>T (p.Pro457Ser) rs372374492 0.00001
NM_000069.3(CACNA1S):c.1557G>A (p.Met519Ile) rs200066766 0.00001
NM_000069.3(CACNA1S):c.1583G>T (p.Arg528Leu) rs80338777 0.00001
NM_000069.3(CACNA1S):c.1628C>T (p.Thr543Met) rs777962341 0.00001
NM_000069.3(CACNA1S):c.1827+6C>T rs202244301 0.00001
NM_000069.3(CACNA1S):c.2269C>T (p.Arg757Ter) rs770073633 0.00001
NM_000069.3(CACNA1S):c.2922G>A (p.Val974=) rs377715551 0.00001
NM_000069.3(CACNA1S):c.3166A>G (p.Met1056Val) rs757165791 0.00001
NM_000069.3(CACNA1S):c.3584T>C (p.Ile1195Thr) rs200366112 0.00001
NM_000069.3(CACNA1S):c.3795G>T (p.Gln1265His) rs201627041 0.00001
NM_000069.3(CACNA1S):c.4242-10C>G rs574154912 0.00001
NM_000069.3(CACNA1S):c.502C>T (p.Arg168Ter) rs201998231 0.00001
NM_000069.3(CACNA1S):c.531G>A (p.Ser177=) rs750087191 0.00001
NM_000069.3(CACNA1S):c.695-5T>A rs1487979476 0.00001
NM_000069.3(CACNA1S):c.766A>G (p.Ile256Val) rs190152688 0.00001
NM_000069.3(CACNA1S):c.1382C>A (p.Thr461Asn) rs143202536
NM_000069.3(CACNA1S):c.1401_1414del (p.Asn468fs) rs2102144416
NM_000069.3(CACNA1S):c.164C>T (p.Thr55Met) rs549107212
NM_000069.3(CACNA1S):c.1778G>A (p.Arg593Gln) rs113812219
NM_000069.3(CACNA1S):c.1781G>T (p.Arg594Leu) rs762032797
NM_000069.3(CACNA1S):c.1847G>A (p.Trp616Ter) rs1572048220
NM_000069.3(CACNA1S):c.1884C>T (p.Gly628=) rs200743095
NM_000069.3(CACNA1S):c.2270G>A (p.Arg757Gln) rs868409473
NM_000069.3(CACNA1S):c.2647A>C (p.Met883Leu) rs553593355
NM_000069.3(CACNA1S):c.2647A>G (p.Met883Val) rs553593355
NM_000069.3(CACNA1S):c.2746-16G>A rs531717137
NM_000069.3(CACNA1S):c.2812del (p.Leu938fs) rs1572038993
NM_000069.3(CACNA1S):c.2920G>A (p.Val974Met) rs757840865
NM_000069.3(CACNA1S):c.3686G>A (p.Arg1229His) rs774416016
NM_000069.3(CACNA1S):c.3861+14G>T rs200654730
NM_000069.3(CACNA1S):c.394C>A (p.Leu132Met) rs377030324
NM_000069.3(CACNA1S):c.5105G>C (p.Arg1702Pro) rs201310235
NM_000069.3(CACNA1S):c.5129T>C (p.Val1710Ala) rs1189622818
NM_000069.3(CACNA1S):c.5299C>T (p.Pro1767Ser) rs200434921

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