ClinVar Miner

Variants in gene ADNP with conflicting interpretations

See also:
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
562 39 0 40 18 0 3 59

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 8 1 0 0
likely pathogenic 8 0 3 0 0
uncertain significance 1 3 0 17 2
likely benign 0 0 17 0 32
benign 0 0 2 32 0

All variants with conflicting interpretations #

Total variants: 59
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001282531.3(ADNP):c.1075A>G (p.Ile359Val) rs78300927 0.00553
NM_001282531.3(ADNP):c.2475G>T (p.Gly825=) rs148502910 0.00534
NM_001282531.3(ADNP):c.2743G>A (p.Val915Ile) rs150900514 0.00236
NM_001282531.3(ADNP):c.2931A>G (p.Gly977=) rs144684998 0.00132
NM_001282531.3(ADNP):c.2943G>T (p.Val981=) rs143103063 0.00107
NM_001282531.3(ADNP):c.3279C>T (p.Ala1093=) rs142247083 0.00097
NM_001282531.3(ADNP):c.2317A>G (p.Lys773Glu) rs140169338 0.00059
NM_001282531.3(ADNP):c.1752A>G (p.Gln584=) rs139237825 0.00050
NM_001282531.3(ADNP):c.909G>A (p.Met303Ile) rs141172488 0.00050
NM_001282531.3(ADNP):c.3058C>G (p.Gln1020Glu) rs150374762 0.00046
NM_001282531.3(ADNP):c.535A>G (p.Ile179Val) rs144798768 0.00031
NM_001282531.3(ADNP):c.2772G>C (p.Glu924Asp) rs148496595 0.00026
NM_001282531.3(ADNP):c.3236A>G (p.Asn1079Ser) rs147399432 0.00025
NM_001282531.3(ADNP):c.2554A>G (p.Lys852Glu) rs776007948 0.00024
NM_001282531.3(ADNP):c.1063G>A (p.Ala355Thr) rs200625964 0.00021
NM_001282531.3(ADNP):c.2310T>C (p.Phe770=) rs189595164 0.00021
NM_001282531.3(ADNP):c.2561C>T (p.Ser854Phe) rs376827094 0.00021
NM_001282531.3(ADNP):c.2749C>T (p.Pro917Ser) rs142988030 0.00019
NM_001282531.3(ADNP):c.1212G>C (p.Ser404=) rs139951165 0.00016
NM_001282531.3(ADNP):c.2782G>C (p.Asp928His) rs76458950 0.00014
NM_001282531.3(ADNP):c.1163C>T (p.Ala388Val) rs200732604 0.00013
NM_001282531.3(ADNP):c.2725G>A (p.Glu909Lys) rs200749133 0.00012
NM_001282531.3(ADNP):c.3185T>C (p.Ile1062Thr) rs745861253 0.00011
NM_001282531.3(ADNP):c.1747G>T (p.Ala583Ser) rs141535413 0.00008
NM_001282531.3(ADNP):c.2617G>T (p.Asp873Tyr) rs147299402 0.00008
NM_001282531.3(ADNP):c.2815A>C (p.Ile939Leu) rs201104498 0.00008
NM_001282531.3(ADNP):c.2994C>T (p.Asp998=) rs753268138 0.00008
NM_001282531.3(ADNP):c.1754A>G (p.Asn585Ser) rs147336313 0.00004
NM_001282531.3(ADNP):c.393G>A (p.Pro131=) rs201360495 0.00004
NM_001282531.3(ADNP):c.801C>G (p.Pro267=) rs191162376 0.00004
NM_001282531.3(ADNP):c.2849A>G (p.His950Arg) rs1282824691 0.00003
NM_001282531.3(ADNP):c.2600A>G (p.Asn867Ser) rs750479975 0.00002
NM_001282531.3(ADNP):c.1234C>G (p.Leu412Val) rs1342698415 0.00001
NM_001282531.3(ADNP):c.191C>T (p.Thr64Met) rs752399004 0.00001
NM_001282531.3(ADNP):c.3095C>G (p.Ser1032Cys) rs559915015 0.00001
NM_001282531.3(ADNP):c.1102C>T (p.Gln368Ter) rs886056775
NM_001282531.3(ADNP):c.1141G>C (p.Gly381Arg) rs1057523567
NM_001282531.3(ADNP):c.1212G>A (p.Ser404=)
NM_001282531.3(ADNP):c.1222_1223del (p.Lys408fs) rs1555810376
NM_001282531.3(ADNP):c.1540T>G (p.Cys514Gly) rs2122752568
NM_001282531.3(ADNP):c.1704A>G (p.Thr568=) rs376377223
NM_001282531.3(ADNP):c.1956G>A (p.Thr652=)
NM_001282531.3(ADNP):c.2156dup (p.Tyr719Ter) rs1135401808
NM_001282531.3(ADNP):c.2188C>T (p.Arg730Ter) rs886041116
NM_001282531.3(ADNP):c.2491_2494del (p.Leu831fs) rs587777522
NM_001282531.3(ADNP):c.2496_2499del (p.Asn832fs) rs587777523
NM_001282531.3(ADNP):c.2968G>A (p.Glu990Lys) rs531230573
NM_001282531.3(ADNP):c.2971A>G (p.Met991Val) rs564373258
NM_001282531.3(ADNP):c.2978C>G (p.Pro993Arg) rs1251589256
NM_001282531.3(ADNP):c.3047dup (p.Ala1017fs)
NM_001282531.3(ADNP):c.3069_3072del (p.Arg1023fs) rs1279657093
NM_001282531.3(ADNP):c.3099T>C (p.Tyr1033=)
NM_001282531.3(ADNP):c.3166C>T (p.Arg1056Cys)
NM_001282531.3(ADNP):c.3207T>A (p.Ile1069=)
NM_001282531.3(ADNP):c.422_424dup (p.Ser141dup) rs577498739
NM_001282531.3(ADNP):c.673C>T (p.Arg225Ter) rs1057518991
NM_001282531.3(ADNP):c.833AGA[1] (p.Lys279del) rs771131110
NM_001282531.3(ADNP):c.861C>T (p.Ile287=)
NM_001282531.3(ADNP):c.921C>G (p.Leu307=) rs772948560

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