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:
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
1064 118 0 61 33 0 1 89

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 0 0
likely pathogenic 4 0 1 0 0
uncertain significance 1 1 0 31 6
likely benign 0 0 31 0 57
benign 0 0 6 57 0

All variants with conflicting interpretations #

Total variants: 89
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 0.01134
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 0.00514
NM_001371928.1(AHDC1):c.212C>T (p.Thr71Ile) rs199719452 0.00426
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.489A>G (p.Leu163=) rs142502245 0.00073
NM_001371928.1(AHDC1):c.480C>T (p.Pro160=) rs147707628 0.00067
NM_001371928.1(AHDC1):c.1008C>A (p.Pro336=) rs369467920 0.00061
NM_001371928.1(AHDC1):c.4533G>A (p.Thr1511=) rs139569820 0.00060
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.3572G>A (p.Ser1191Asn) rs146401682 0.00052
NM_001371928.1(AHDC1):c.4329C>G (p.His1443Gln) rs199527867 0.00051
NM_001371928.1(AHDC1):c.2827A>C (p.Thr943Pro) rs150289747 0.00050
NM_001371928.1(AHDC1):c.2532C>T (p.Leu844=) rs149713889 0.00037
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.1536C>T (p.Arg512=) rs370692975 0.00031
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.4603G>A (p.Ala1535Thr) rs193153262 0.00028
NM_001371928.1(AHDC1):c.782C>T (p.Ala261Val) rs144941412 0.00024
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 0.00014
NM_001371928.1(AHDC1):c.2438G>A (p.Arg813His) rs138299564 0.00011
NM_001371928.1(AHDC1):c.4492G>A (p.Ala1498Thr) rs201460329 0.00011
NM_001371928.1(AHDC1):c.1447G>A (p.Val483Ile) rs140548603 0.00009
NM_001371928.1(AHDC1):c.4178G>A (p.Gly1393Asp) rs148277570 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.1146C>T (p.Tyr382=) rs200228240 0.00005
NM_001371928.1(AHDC1):c.3308C>T (p.Ala1103Val) rs138355578 0.00005
NM_001371928.1(AHDC1):c.4045A>G (p.Met1349Val) rs369141317 0.00005
NM_001371928.1(AHDC1):c.1037G>A (p.Arg346His) rs774177833 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.3450G>A (p.Pro1150=) rs569896242 0.00002
NM_001371928.1(AHDC1):c.1081G>A (p.Glu361Lys) rs780172155 0.00001
NM_001371928.1(AHDC1):c.1885G>A (p.Ala629Thr) rs755324255 0.00001
NM_001371928.1(AHDC1):c.2943C>T (p.Phe981=) rs555542437 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.1003G>A (p.Asp335Asn) rs1202158646
NM_001371928.1(AHDC1):c.1019T>C (p.Leu340Pro) rs990867212
NM_001371928.1(AHDC1):c.1095G>A (p.Leu365=)
NM_001371928.1(AHDC1):c.1122dup (p.Gly375fs) rs749294057
NM_001371928.1(AHDC1):c.1157G>A (p.Arg386His)
NM_001371928.1(AHDC1):c.175G>A (p.Glu59Lys)
NM_001371928.1(AHDC1):c.2062C>T (p.Arg688Ter) rs1165205177
NM_001371928.1(AHDC1):c.2285G>A (p.Gly762Glu)
NM_001371928.1(AHDC1):c.248C>G (p.Pro83Arg) rs751027836
NM_001371928.1(AHDC1):c.2495G>A (p.Arg832His)
NM_001371928.1(AHDC1):c.2594G>A (p.Arg865Gln)
NM_001371928.1(AHDC1):c.2606G>A (p.Gly869Asp)
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.2866C>T (p.Arg956Cys)
NM_001371928.1(AHDC1):c.3001G>A (p.Ala1001Thr) rs772318314
NM_001371928.1(AHDC1):c.3052G>A (p.Ala1018Thr)
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[6] (p.Ser1091del) rs530256606
NM_001371928.1(AHDC1):c.3254CCT[8] (p.Ser1091dup) rs530256606
NM_001371928.1(AHDC1):c.3551G>T (p.Arg1184Leu) rs547656373
NM_001371928.1(AHDC1):c.3617T>C (p.Met1206Thr)
NM_001371928.1(AHDC1):c.3628G>A (p.Glu1210Lys)
NM_001371928.1(AHDC1):c.3790C>T (p.Arg1264Trp)
NM_001371928.1(AHDC1):c.4254G>A (p.Lys1418=) rs547570973
NM_001371928.1(AHDC1):c.4280A>G (p.His1427Arg)
NM_001371928.1(AHDC1):c.4339C>T (p.Arg1447Trp)
NM_001371928.1(AHDC1):c.4349C>T (p.Pro1450Leu)
NM_001371928.1(AHDC1):c.4370A>G (p.Asp1457Gly) rs1557655967
NM_001371928.1(AHDC1):c.994C>T (p.Gln332Ter) rs1571242220

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