ClinVar Miner

Variants in gene ANK1 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
899 123 0 45 73 0 1 102

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 12 1 0 1
likely pathogenic 12 0 0 0 0
uncertain significance 1 0 0 55 30
likely benign 0 0 55 0 33
benign 1 0 30 33 0

All variants with conflicting interpretations #

Total variants: 102
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000037.4(ANK1):c.1856G>A (p.Arg619His) rs2304877 0.04842
NG_012820.2(ANK1):g.104117T>C rs77173848 0.04675
NM_000037.4(ANK1):c.*238T>C rs72638944 0.04617
NM_000037.4(ANK1):c.909+7A>G rs17661203 0.04301
NM_000037.4(ANK1):c.1320G>A (p.Pro440=) rs28533718 0.03824
NM_000037.4(ANK1):c.4385C>T (p.Ala1462Val) rs34664882 0.02105
NG_012820.2(ANK1):g.104072G>A rs183894680 0.01664
NM_000037.4(ANK1):c.3224C>T (p.Thr1075Ile) rs35213384 0.01414
NM_000037.4(ANK1):c.4008G>A (p.Pro1336=) rs147536061 0.01340
NM_000037.4(ANK1):c.654C>A (p.Asn218Lys) rs61735313 0.01280
NM_000037.4(ANK1):c.2211C>G (p.Pro737=) rs34194642 0.01217
NM_000037.4(ANK1):c.183G>C (p.Val61=) rs61753680 0.01208
NM_000037.4(ANK1):c.3813G>A (p.Glu1271=) rs16890758 0.01205
NM_000037.4(ANK1):c.5544+91C>T rs72638959 0.00849
NM_000037.4(ANK1):c.*1708G>C rs182454354 0.00775
NM_000037.4(ANK1):c.1590C>T (p.Ala530=) rs61758865 0.00673
NM_000037.4(ANK1):c.1999-17C>T rs28571216 0.00543
NM_000037.4(ANK1):c.-204C>G rs117184692 0.00514
NM_000037.4(ANK1):c.3399C>T (p.Thr1133=) rs117516263 0.00465
NM_000037.4(ANK1):c.3033C>T (p.Ser1011=) rs61758866 0.00422
NM_000037.4(ANK1):c.1506C>T (p.Ala502=) rs34387324 0.00407
NM_000037.4(ANK1):c.2403G>A (p.Lys801=) rs147130318 0.00376
NM_000037.4(ANK1):c.2735+10G>A rs75296105 0.00374
NM_000037.4(ANK1):c.5544+46G>A rs114905632 0.00304
NM_000037.4(ANK1):c.5097-34C>T rs185434561 0.00261
NM_000037.4(ANK1):c.981C>T (p.Tyr327=) rs61758867 0.00253
NM_000037.4(ANK1):c.*8C>A rs146341756 0.00209
NM_000037.4(ANK1):c.2197-17G>A rs188360816 0.00183
NM_000037.4(ANK1):c.2830G>A (p.Ala944Thr) rs35797405 0.00170
NM_000037.4(ANK1):c.2495G>A (p.Arg832Gln) rs34523608 0.00150
NM_000037.4(ANK1):c.2745G>A (p.Val915=) rs143585080 0.00150
NM_000037.4(ANK1):c.5395-1162C>A rs145094714 0.00138
NM_000037.4(ANK1):c.3532+13C>A rs181905023 0.00122
NM_000037.4(ANK1):c.4606C>T (p.Arg1536Cys) rs146416859 0.00121
NM_000037.4(ANK1):c.2826G>A (p.Thr942=) rs7002295 0.00119
NM_000037.4(ANK1):c.997G>A (p.Asp333Asn) rs147608206 0.00119
NM_000037.4(ANK1):c.1484A>G (p.Asn495Ser) rs142690258 0.00114
NM_000037.4(ANK1):c.1387G>A (p.Val463Ile) rs140085544 0.00105
NM_000037.4(ANK1):c.2589C>T (p.Pro863=) rs114870847 0.00102
NM_000037.4(ANK1):c.3102C>T (p.Asn1034=) rs145169484 0.00101
NM_000037.4(ANK1):c.2960+13G>T rs200746947 0.00099
NM_000037.4(ANK1):c.2132A>G (p.Tyr711Cys) rs139375455 0.00093
NM_000037.4(ANK1):c.1153C>T (p.Arg385Cys) rs142626656 0.00067
NM_000037.4(ANK1):c.1404+15C>T rs201598401 0.00067
NM_000037.4(ANK1):c.2196+6G>A rs200761553 0.00064
NM_000037.4(ANK1):c.4022C>T (p.Ser1341Leu) rs145562489 0.00063
NM_000037.4(ANK1):c.1467G>A (p.Leu489=) rs148165519 0.00057
NM_000037.4(ANK1):c.1483A>C (p.Asn495His) rs143839208 0.00057
NM_000037.4(ANK1):c.4156T>C (p.Tyr1386His) rs201439151 0.00041
NM_000037.4(ANK1):c.2167C>A (p.His723Asn) rs150899388 0.00039
NM_000037.4(ANK1):c.1337G>C (p.Arg446Thr) rs142010751 0.00038
NM_000037.4(ANK1):c.229-11A>G rs372152994 0.00035
NM_000037.4(ANK1):c.3668T>C (p.Val1223Ala) rs185516533 0.00033
NM_000037.4(ANK1):c.1203C>T (p.Thr401=) rs145628190 0.00032
NM_000037.4(ANK1):c.1503C>T (p.Thr501=) rs145793923 0.00029
NM_000037.4(ANK1):c.3984+9A>G rs369984591 0.00029
NM_000037.4(ANK1):c.675C>T (p.Leu225=) rs146507999 0.00026
NM_000037.4(ANK1):c.876G>A (p.Leu292=) rs373060967 0.00026
NM_000037.4(ANK1):c.2097+15C>T rs200206750 0.00023
NM_000037.4(ANK1):c.3298G>A (p.Val1100Ile) rs147741842 0.00023
NM_000037.4(ANK1):c.669G>A (p.Gln223=) rs375060699 0.00021
NM_000037.4(ANK1):c.3282G>A (p.Thr1094=) rs144821829 0.00019
NM_000037.4(ANK1):c.3533-10G>A rs374510116 0.00019
NM_000037.4(ANK1):c.5376C>T (p.Thr1792=) rs147232364 0.00016
NM_000037.4(ANK1):c.4341T>C (p.Ser1447=) rs112677283 0.00014
NM_000037.4(ANK1):c.5601G>A (p.Ala1867=) rs150975400 0.00014
NM_000037.4(ANK1):c.2982G>A (p.Pro994=) rs139623406 0.00013
NM_000037.4(ANK1):c.3234C>T (p.Pro1078=) rs755219802 0.00011
NM_000037.4(ANK1):c.3288G>A (p.Pro1096=) rs140964621 0.00011
NM_000037.4(ANK1):c.3570A>C (p.Gly1190=) rs762382303 0.00011
NM_000037.4(ANK1):c.3984+12C>T rs200019819 0.00011
NM_000037.4(ANK1):c.2389-10C>T rs764935260 0.00010
NM_000037.4(ANK1):c.1926C>T (p.Ala642=) rs534680895 0.00009
NM_000037.4(ANK1):c.4136C>T (p.Pro1379Leu) rs748160803 0.00009
NM_000037.4(ANK1):c.1859G>A (p.Ser620Asn) rs750068521 0.00008
NM_000037.4(ANK1):c.4105-5T>G rs768183148 0.00006
NM_000037.4(ANK1):c.1197G>A (p.Ala399=) rs756075877 0.00005
NM_000037.4(ANK1):c.5600C>T (p.Ala1867Val) rs767580738 0.00004
NM_000037.4(ANK1):c.1563C>T (p.Ala521=) rs762615459 0.00002
NM_000037.4(ANK1):c.1824C>T (p.Ile608=) rs144904116 0.00002
NM_000037.4(ANK1):c.5520C>T (p.Ala1840=) rs116148295 0.00002
NM_000037.4(ANK1):c.1350G>A (p.Thr450=) rs769803878 0.00001
NM_000037.4(ANK1):c.237C>T (p.Asn79=) rs372696694 0.00001
NM_000037.4(ANK1):c.5497C>T (p.Arg1833Ter) rs137852831 0.00001
NM_000037.4(ANK1):c.711+13C>T rs763737257 0.00001
NM_000037.4(ANK1):c.*385del rs112209933
NM_000037.4(ANK1):c.1801-17G>A rs786205243
NM_000037.4(ANK1):c.2029C>T (p.Gln677Ter) rs1563502820
NM_000037.4(ANK1):c.2098-5T>C rs2150613009
NM_000037.4(ANK1):c.2394_2397del (p.Ser799fs) rs2150605978
NM_000037.4(ANK1):c.3115+9G>A rs150850103
NM_000037.4(ANK1):c.3325C>T (p.Gln1109Ter) rs2150593157
NM_000037.4(ANK1):c.3533-2A>G
NM_000037.4(ANK1):c.3829G>A (p.Val1277Met) rs148942046
NM_000037.4(ANK1):c.3893_3894del (p.Ser1298fs)
NM_000037.4(ANK1):c.3984+2T>C rs1818974494
NM_000037.4(ANK1):c.4000C>T (p.Arg1334Ter) rs1172677213
NM_000037.4(ANK1):c.409C>T (p.Gln137Ter) rs2150661792
NM_000037.4(ANK1):c.4974C>T (p.Asp1658=) rs149859024
NM_000037.4(ANK1):c.5197C>T (p.Gln1733Ter)
NM_000037.4(ANK1):c.6dup (p.Tyr3fs)
NM_000037.4(ANK1):c.965G>T (p.Arg322Leu) rs183864227

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