ClinVar Miner

Variants in gene AHDC1 with conflicting interpretations

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:

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
1232 136 0 65 42 0 2 103

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 4 1 1 0
likely pathogenic 4 0 1 1 0
uncertain significance 1 1 0 39 6
likely benign 1 1 39 0 61
benign 0 0 6 61 0

All variants with conflicting interpretations #

Total variants: 103
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001371928.1(AHDC1):c.100A>C (p.Thr34Pro) rs758473342 0.32198
NM_001371928.1(AHDC1):c.2634C>T (p.Ala878=) rs60039430 0.01056
NM_001371928.1(AHDC1):c.1326C>T (p.Gly442=) rs188125472 0.00758
NM_001371928.1(AHDC1):c.1411G>A (p.Val471Met) rs147276945 0.00535
NM_001371928.1(AHDC1):c.1235G>A (p.Arg412His) rs181285619 0.00501
NM_001371928.1(AHDC1):c.212C>T (p.Thr71Ile) rs199719452 0.00415
NM_001371928.1(AHDC1):c.4782C>T (p.Pro1594=) rs61742782 0.00407
NM_001371928.1(AHDC1):c.3054C>T (p.Ala1018=) rs78511171 0.00313
NM_001371928.1(AHDC1):c.811C>G (p.Pro271Ala) rs200660997 0.00281
NM_001371928.1(AHDC1):c.286C>T (p.Arg96Cys) rs141734980 0.00258
NM_001371928.1(AHDC1):c.561C>T (p.His187=) rs116570071 0.00252
NM_001371928.1(AHDC1):c.1510G>A (p.Val504Met) rs143346525 0.00177
NM_001371928.1(AHDC1):c.3240T>C (p.Ser1080=) rs148001847 0.00157
NM_001371928.1(AHDC1):c.4021T>G (p.Cys1341Gly) rs111941243 0.00145
NM_001371928.1(AHDC1):c.2745G>A (p.Leu915=) rs138452825 0.00119
NM_001371928.1(AHDC1):c.4200C>T (p.Pro1400=) rs149518384 0.00119
NM_001371928.1(AHDC1):c.2976C>T (p.Cys992=) rs145774336 0.00096
NM_001371928.1(AHDC1):c.726C>T (p.Ala242=) rs142598186 0.00074
NM_001371928.1(AHDC1):c.480C>T (p.Pro160=) rs147707628 0.00067
NM_001371928.1(AHDC1):c.489A>G (p.Leu163=) rs142502245 0.00066
NM_001371928.1(AHDC1):c.1008C>A (p.Pro336=) rs369467920 0.00061
NM_001371928.1(AHDC1):c.4533G>A (p.Thr1511=) rs139569820 0.00058
NM_001371928.1(AHDC1):c.1608C>T (p.Pro536=) rs143794200 0.00057
NM_001371928.1(AHDC1):c.4384A>C (p.Lys1462Gln) rs145080672 0.00056
NM_001371928.1(AHDC1):c.2827A>C (p.Thr943Pro) rs150289747 0.00050
NM_001371928.1(AHDC1):c.3572G>A (p.Ser1191Asn) rs146401682 0.00047
NM_001371928.1(AHDC1):c.4329C>G (p.His1443Gln) rs199527867 0.00046
NM_001371928.1(AHDC1):c.2532C>T (p.Leu844=) rs149713889 0.00035
NM_001371928.1(AHDC1):c.4000G>A (p.Gly1334Ser) rs143951781 0.00034
NM_001371928.1(AHDC1):c.4585C>T (p.Arg1529Cys) rs200178921 0.00032
NM_001371928.1(AHDC1):c.68G>A (p.Arg23Gln) rs950217952 0.00031
NM_001371928.1(AHDC1):c.225A>G (p.Pro75=) rs377231405 0.00029
NM_001371928.1(AHDC1):c.1536C>T (p.Arg512=) rs370692975 0.00028
NM_001371928.1(AHDC1):c.4603G>A (p.Ala1535Thr) rs193153262 0.00028
NM_001371928.1(AHDC1):c.782C>T (p.Ala261Val) rs144941412 0.00026
NM_001371928.1(AHDC1):c.2538G>A (p.Ser846=) rs202137607 0.00021
NM_001371928.1(AHDC1):c.1446C>T (p.Pro482=) rs138527675 0.00016
NM_001371928.1(AHDC1):c.4797C>T (p.Thr1599=) rs149147457 0.00015
NM_001371928.1(AHDC1):c.2438G>A (p.Arg813His) rs138299564 0.00013
NM_001371928.1(AHDC1):c.4492G>A (p.Ala1498Thr) rs201460329 0.00012
NM_001371928.1(AHDC1):c.1447G>A (p.Val483Ile) rs140548603 0.00009
NM_001371928.1(AHDC1):c.2183G>A (p.Arg728Gln) rs746053039 0.00009
NM_001371928.1(AHDC1):c.874G>A (p.Gly292Arg) rs377557826 0.00009
NM_001371928.1(AHDC1):c.1072C>T (p.Pro358Ser) rs768630952 0.00007
NM_001371928.1(AHDC1):c.1146C>T (p.Tyr382=) rs200228240 0.00007
NM_001371928.1(AHDC1):c.4178G>A (p.Gly1393Asp) rs148277570 0.00007
NM_001371928.1(AHDC1):c.807C>T (p.Pro269=) rs374019808 0.00007
NM_001371928.1(AHDC1):c.304G>A (p.Gly102Arg) rs752038684 0.00006
NM_001371928.1(AHDC1):c.3367G>A (p.Ala1123Thr) rs534403874 0.00006
NM_001371928.1(AHDC1):c.3308C>T (p.Ala1103Val) rs138355578 0.00005
NM_001371928.1(AHDC1):c.3450G>A (p.Pro1150=) rs569896242 0.00005
NM_001371928.1(AHDC1):c.4045A>G (p.Met1349Val) rs369141317 0.00005
NM_001371928.1(AHDC1):c.4280A>G (p.His1427Arg) rs372813656 0.00005
NM_001371928.1(AHDC1):c.1037G>A (p.Arg346His) rs774177833 0.00004
NM_001371928.1(AHDC1):c.1095G>A (p.Leu365=) rs372554739 0.00004
NM_001371928.1(AHDC1):c.2182C>T (p.Arg728Trp) rs201595662 0.00004
NM_001371928.1(AHDC1):c.3630G>T (p.Glu1210Asp) rs371337420 0.00004
NM_001371928.1(AHDC1):c.575G>A (p.Arg192Gln) rs752497243 0.00004
NM_001371928.1(AHDC1):c.3855G>C (p.Glu1285Asp) rs766491824 0.00003
NM_001371928.1(AHDC1):c.1675G>A (p.Gly559Ser) rs765994795 0.00002
NM_001371928.1(AHDC1):c.2866C>T (p.Arg956Cys) rs1368457816 0.00002
NM_001371928.1(AHDC1):c.3052G>A (p.Ala1018Thr) rs751537617 0.00002
NM_001371928.1(AHDC1):c.4177G>A (p.Gly1393Ser) rs371911768 0.00002
NM_001371928.1(AHDC1):c.1003G>A (p.Asp335Asn) rs1202158646 0.00001
NM_001371928.1(AHDC1):c.1007C>A (p.Pro336His) rs758838935 0.00001
NM_001371928.1(AHDC1):c.1081G>A (p.Glu361Lys) rs780172155 0.00001
NM_001371928.1(AHDC1):c.1157G>A (p.Arg386His) rs539332275 0.00001
NM_001371928.1(AHDC1):c.1885G>A (p.Ala629Thr) rs755324255 0.00001
NM_001371928.1(AHDC1):c.2495G>A (p.Arg832His) rs1276300681 0.00001
NM_001371928.1(AHDC1):c.2594G>A (p.Arg865Gln) rs754239206 0.00001
NM_001371928.1(AHDC1):c.260G>A (p.Arg87Gln) rs765084436 0.00001
NM_001371928.1(AHDC1):c.2943C>T (p.Phe981=) rs555542437 0.00001
NM_001371928.1(AHDC1):c.3790C>T (p.Arg1264Trp) rs770315969 0.00001
NM_001371928.1(AHDC1):c.3829G>A (p.Gly1277Ser) rs752509887 0.00001
NM_001371928.1(AHDC1):c.4031T>C (p.Ile1344Thr) rs1467982801 0.00001
NM_001371928.1(AHDC1):c.4339C>T (p.Arg1447Trp) rs1337874441 0.00001
NM_001371928.1(AHDC1):c.835C>G (p.Gln279Glu) rs1259408806 0.00001
NM_001371928.1(AHDC1):c.1007C>T (p.Pro336Leu) rs758838935
NM_001371928.1(AHDC1):c.1019T>C (p.Leu340Pro) rs990867212
NM_001371928.1(AHDC1):c.1122dup (p.Gly375fs) rs749294057
NM_001371928.1(AHDC1):c.175G>A (p.Glu59Lys) rs773887305
NM_001371928.1(AHDC1):c.2062C>T (p.Arg688Ter) rs1165205177
NM_001371928.1(AHDC1):c.2197G>T (p.Ala733Ser) rs543652040
NM_001371928.1(AHDC1):c.2285G>A (p.Gly762Glu) rs2019425789
NM_001371928.1(AHDC1):c.248C>G (p.Pro83Arg) rs751027836
NM_001371928.1(AHDC1):c.2606G>A (p.Gly869Asp) rs2521927811
NM_001371928.1(AHDC1):c.2726C>G (p.Pro909Arg) rs776465786
NM_001371928.1(AHDC1):c.2850G>A (p.Pro950=) rs151218177
NM_001371928.1(AHDC1):c.3001G>A (p.Ala1001Thr) rs772318314
NM_001371928.1(AHDC1):c.3098G>A (p.Ser1033Asn) rs1387093211
NM_001371928.1(AHDC1):c.3109TTC[1] (p.Phe1038del) rs762446869
NM_001371928.1(AHDC1):c.3234_3242del (p.Thr1079_Ala1081del) rs754444655
NM_001371928.1(AHDC1):c.3254CCT[10] (p.Ser1091_Phe1092insSerSerSer)
NM_001371928.1(AHDC1):c.3254CCT[6] (p.Ser1091del) rs530256606
NM_001371928.1(AHDC1):c.3254CCT[8] (p.Ser1091dup) rs530256606
NM_001371928.1(AHDC1):c.3542G>T (p.Gly1181Val) rs761051371
NM_001371928.1(AHDC1):c.3617T>C (p.Met1206Thr) rs2521857044
NM_001371928.1(AHDC1):c.3628G>A (p.Glu1210Lys) rs1355731397
NM_001371928.1(AHDC1):c.4254G>A (p.Lys1418=) rs547570973
NM_001371928.1(AHDC1):c.4349C>T (p.Pro1450Leu) rs377174668
NM_001371928.1(AHDC1):c.4370A>G (p.Asp1457Gly) rs1557655967
NM_001371928.1(AHDC1):c.811C>T (p.Pro271Ser) rs200660997
NM_001371928.1(AHDC1):c.994C>T (p.Gln332Ter) rs1571242220

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