ClinVar Miner

Variants with conflicting interpretations studied for Hereditary pancreatitis

Coded as:
Minimum review status of the submission for Hereditary pancreatitis: Collection method of the submission for Hereditary pancreatitis:
Minimum review status of the other submission: Collection method of the other submission:
Minimum conflict level:

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
2342 425 1 60 75 3 39 150

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
Hereditary pancreatitis pathogenic likely pathogenic uncertain significance likely benign benign association
pathogenic 1 15 19 5 5 2
likely pathogenic 15 1 24 0 2 2
uncertain significance 19 24 0 68 17 2
likely benign 5 0 68 0 45 1
benign 5 2 17 45 0 1
association 2 2 2 1 1 0

Condition to condition summary #

Total conditions: 1
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
Hereditary pancreatitis 2342 425 1 60 75 3 39 150

All variants with conflicting interpretations #

Total variants: 150
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_002769.5(PRSS1):c.161A>G (p.Asn54Ser) rs144422014 0.04776
NM_001379610.1(SPINK1):c.174C>T (p.Cys58=) rs35737774 0.04145
NM_001379610.1(SPINK1):c.-41G>A rs79438751 0.03655
NM_001379610.1(SPINK1):c.194+90A>T rs112569673 0.03151
NM_001379610.1(SPINK1):c.36G>C (p.Leu12Phe) rs35877720 0.03139
NM_002769.5(PRSS1):c.298G>A (p.Asp100Asn) rs199507985 0.01072
NM_001379610.1(SPINK1):c.200G>A (p.Arg67His) rs35523678 0.01028
NM_001379610.1(SPINK1):c.194+184T>A rs114094661 0.01007
NM_001379610.1(SPINK1):c.101A>G (p.Asn34Ser) rs17107315 0.00797
NM_001379610.1(SPINK1):c.231G>A (p.Gly77=) rs34809998 0.00758
NM_001379610.1(SPINK1):c.56-37T>C rs17107318 0.00736
NM_000492.4(CFTR):c.2002C>T (p.Arg668Cys) rs1800100 0.00625
NM_000492.4(CFTR):c.3808G>A (p.Asp1270Asn) rs11971167 0.00417
NM_001379610.1(SPINK1):c.163C>T (p.Pro55Ser) rs111966833 0.00389
NM_007272.3(CTRC):c.760C>T (p.Arg254Trp) rs121909293 0.00374
NM_002769.5(PRSS1):c.592-24C>T rs192452846 0.00354
NM_001379610.1(SPINK1):c.88-23A>T rs199929811 0.00219
NM_007272.3(CTRC):c.-59C>T rs183658182 0.00217
NM_007272.3(CTRC):c.640-12G>A rs183053579 0.00194
NM_002769.5(PRSS1):c.592-11C>T rs183791770 0.00131
NM_002769.5(PRSS1):c.592-8C>T rs200381474 0.00131
NM_001379610.1(SPINK1):c.75C>T (p.Ser25=) rs35006579 0.00119
NM_007272.3(CTRC):c.555G>A (p.Thr185=) rs113087202 0.00097
NM_007272.3(CTRC):c.494-6C>T rs111790169 0.00096
NM_000492.4(CFTR):c.1523T>G (p.Phe508Cys) rs74571530 0.00093
NM_007272.3(CTRC):c.217G>A (p.Ala73Thr) rs515726209 0.00067
NM_001868.4(CPA1):c.281A>G (p.Gln94Arg) rs41274176 0.00066
NM_002769.5(PRSS1):c.40+10A>G rs199613498 0.00066
NM_007272.3(CTRC):c.640-14C>T rs202049497 0.00060
NM_007272.3(CTRC):c.703G>A (p.Val235Ile) rs140993290 0.00049
NM_001379610.1(SPINK1):c.-22C>T rs190219062 0.00048
NM_001379610.1(SPINK1):c.33C>T (p.Ala11=) rs147454311 0.00046
NM_007272.3(CTRC):c.231-14C>T rs374364850 0.00046
NM_000492.4(CFTR):c.3154T>G (p.Phe1052Val) rs150212784 0.00037
NM_002769.5(PRSS1):c.623G>C (p.Gly208Ala) rs189270875 0.00035
NM_002769.5(PRSS1):c.121C>T (p.Leu41=) rs369646357 0.00034
NM_002769.5(PRSS1):c.508A>G (p.Lys170Glu) rs201550522 0.00033
NM_002769.5(PRSS1):c.417C>T (p.Cys139=) rs141847266 0.00032
NM_007272.3(CTRC):c.110G>A (p.Arg37Gln) rs145868278 0.00032
NM_002769.5(PRSS1):c.410C>T (p.Thr137Met) rs117497341 0.00024
NM_007272.3(CTRC):c.674A>C (p.Glu225Ala) rs201486613 0.00020
NM_007272.3(CTRC):c.746C>T (p.Pro249Leu) rs142560329 0.00020
NM_007272.3(CTRC):c.736C>T (p.Arg246Cys) rs200412314 0.00019
NM_001379610.1(SPINK1):c.87+26T>C rs200296519 0.00017
NM_002769.5(PRSS1):c.40+13C>T rs368872847 0.00017
NM_000492.4(CFTR):c.489+3A>G rs377729736 0.00016
NM_001379610.1(SPINK1):c.194+2T>C rs148954387 0.00016
NM_001868.4(CPA1):c.1021G>A (p.Ala341Thr) rs77792157 0.00016
NM_002769.5(PRSS1):c.453C>T (p.Gly151=) rs147765409 0.00015
NM_002769.5(PRSS1):c.390C>T (p.Thr130=) rs561097415 0.00013
NM_002769.5(PRSS1):c.674A>G (p.Lys225Arg) rs541223359 0.00012
NM_007272.3(CTRC):c.747G>A (p.Pro249=) rs150078209 0.00012
NM_002769.5(PRSS1):c.235G>A (p.Glu79Lys) rs111033564 0.00011
NM_002769.5(PRSS1):c.47C>T (p.Ala16Val) rs202003805 0.00009
NM_007272.3(CTRC):c.533A>G (p.Gln178Arg) rs200678111 0.00009
NM_007272.3(CTRC):c.550G>A (p.Ala184Thr) rs761546594 0.00009
NM_007272.3(CTRC):c.792+12C>A rs371799801 0.00009
NM_001379610.1(SPINK1):c.208T>A (p.Ser70Thr) rs373011963 0.00006
NM_007272.3(CTRC):c.39T>C (p.Cys13=) rs747431847 0.00005
NM_007272.3(CTRC):c.41-5C>A rs781284605 0.00005
NM_001379610.1(SPINK1):c.126A>G (p.Ile42Met) rs370266754 0.00004
NM_001379610.1(SPINK1):c.203A>G (p.Gln68Arg) rs760077990 0.00004
NM_002769.5(PRSS1):c.6T>A (p.Asn2Lys) rs140591237 0.00004
NM_007272.3(CTRC):c.164G>A (p.Trp55Ter) rs121909294 0.00004
NM_007272.3(CTRC):c.485G>A (p.Arg162His) rs775404479 0.00004
NM_007272.3(CTRC):c.493+3G>A rs772436044 0.00004
NM_001379610.1(SPINK1):c.83G>A (p.Arg28Lys) rs1007831681 0.00003
NM_002769.5(PRSS1):c.200+18G>A rs778658500 0.00003
NM_002769.5(PRSS1):c.457G>A (p.Asp153Asn) rs61735002 0.00003
NM_002769.5(PRSS1):c.681A>G (p.Gly227=) rs780015944 0.00003
NM_007272.3(CTRC):c.174G>A (p.Thr58=) rs746721892 0.00003
NM_007272.3(CTRC):c.277G>C (p.Val93Leu) rs760649717 0.00003
NM_007272.3(CTRC):c.356+7G>C rs773334021 0.00003
NM_007272.3(CTRC):c.369C>T (p.Ala123=) rs749606141 0.00003
NM_007272.3(CTRC):c.649G>A (p.Gly217Ser) rs202058123 0.00003
NM_007272.3(CTRC):c.68C>T (p.Pro23Leu) rs533967597 0.00003
NM_007272.3(CTRC):c.722G>A (p.Arg241Gln) rs777436696 0.00003
NM_007272.3(CTRC):c.81C>T (p.Ser27=) rs749455108 0.00003
NM_001868.4(CPA1):c.686C>T (p.Thr229Met) rs781815975 0.00002
NM_007272.3(CTRC):c.181G>A (p.Gly61Arg) rs769482036 0.00002
NM_007272.3(CTRC):c.46A>G (p.Ser16Gly) rs765777463 0.00002
NM_007272.3(CTRC):c.494-13A>G rs762842599 0.00002
NM_001379610.1(SPINK1):c.175G>A (p.Val59Met) rs781162491 0.00001
NM_001379610.1(SPINK1):c.206C>T (p.Thr69Ile) rs576564400 0.00001
NM_001379610.1(SPINK1):c.38C>T (p.Ala13Val) rs770387107 0.00001
NM_002769.5(PRSS1):c.313A>G (p.Asn105Asp) rs200254850 0.00001
NM_002769.5(PRSS1):c.325A>C (p.Met109Leu) rs201165989 0.00001
NM_002769.5(PRSS1):c.342C>T (p.Ser114=) rs776924834 0.00001
NM_002769.5(PRSS1):c.365G>A (p.Arg122His) rs111033565 0.00001
NM_002769.5(PRSS1):c.415T>A (p.Cys139Ser) rs397507440 0.00001
NM_002769.5(PRSS1):c.454+75A>G rs1376416883 0.00001
NM_002769.5(PRSS1):c.4A>C (p.Asn2His) rs762980620 0.00001
NM_002769.5(PRSS1):c.561C>T (p.Gly187=) rs1804561 0.00001
NM_002769.5(PRSS1):c.721A>G (p.Asn241Asp) rs141554682 0.00001
NM_002769.5(PRSS1):c.86A>T (p.Asn29Ile) rs111033566 0.00001
NM_007272.3(CTRC):c.154A>G (p.Asn52Asp) rs1199793577 0.00001
NM_007272.3(CTRC):c.1A>G (p.Met1Val) rs544668774 0.00001
NM_007272.3(CTRC):c.230+7G>A rs754126755 0.00001
NM_007272.3(CTRC):c.490_491del (p.Trp164fs) rs2103291536 0.00001
NM_007272.3(CTRC):c.494-1G>C rs766917452 0.00001
NM_007272.3(CTRC):c.595A>T (p.Thr199Ser) rs751977111 0.00001
NM_007272.3(CTRC):c.759C>T (p.Thr253=) rs1325006359 0.00001
NM_007272.3(CTRC):c.82G>A (p.Ala28Thr) rs768414501 0.00001
NM_007272.3(CTRC):c.85C>T (p.Arg29Ter) rs747905422 0.00001
NM_000492.3(CFTR):c.1210-12T[5] rs1805177
NM_000492.4(CFTR):c.1392G>T (p.Lys464Asn) rs397508198
NM_001379610.1(SPINK1):c.194G>T (p.Arg65Leu)
NM_001379610.1(SPINK1):c.220C>A (p.Gln74Lys)
NM_001379610.1(SPINK1):c.41T>G (p.Leu14Arg) rs104893939
NM_001379610.1(SPINK1):c.93_101del (p.Lys31_Tyr33del) rs767903021
NM_002769.4(PRSS1):c.-30_-28delTCC rs386134264
NM_002769.5(PRSS1):c.166C>T (p.Gln56Ter) rs147366981
NM_002769.5(PRSS1):c.200+17C>T rs200688125
NM_002769.5(PRSS1):c.200+1G>A rs143909348
NM_002769.5(PRSS1):c.202C>T (p.Arg68Cys) rs145867820
NM_002769.5(PRSS1):c.346C>T (p.Arg116Cys) rs387906698
NM_002769.5(PRSS1):c.351A>C (p.Ala117=) rs606231346
NM_002769.5(PRSS1):c.354A>C (p.Val118=) rs606231347
NM_002769.5(PRSS1):c.360C>T (p.Asn120=) rs606231348
NM_002769.5(PRSS1):c.389C>T (p.Thr130Ile) rs193922655
NM_002769.5(PRSS1):c.390C>A (p.Thr130=) rs561097415
NM_002769.5(PRSS1):c.398C>G (p.Pro133Arg) rs193922656
NM_002769.5(PRSS1):c.402_403inv (p.Thr135Ala)
NM_002769.5(PRSS1):c.40C>G (p.Leu14Val) rs747228052
NM_002769.5(PRSS1):c.468C>G (p.Asp156Glu) rs146076691
NM_002769.5(PRSS1):c.468C>T (p.Asp156=) rs146076691
NM_002769.5(PRSS1):c.486T>G (p.Asp162Glu) rs6666
NM_002769.5(PRSS1):c.49C>T (p.Pro17Ser) rs770782578
NM_002769.5(PRSS1):c.500G>C (p.Ser167Thr) rs1232891794
NM_002769.5(PRSS1):c.592-3dup rs1798872381
NM_002769.5(PRSS1):c.5A>G (p.Asn2Ser)
NM_002769.5(PRSS1):c.651T>C (p.Gly217=) rs562372415
NM_002769.5(PRSS1):c.651_652delinsCT (p.Asp218Tyr) rs1554499629
NM_002769.5(PRSS1):c.68A>G (p.Lys23Arg) rs111033567
NM_007272.3(CTRC):c.130del (p.Gln44fs) rs1344551908
NM_007272.3(CTRC):c.132G>A (p.Gln44=) rs901779500
NM_007272.3(CTRC):c.180C>A (p.Gly60=) rs497078
NM_007272.3(CTRC):c.231-2A>G rs1570783505
NM_007272.3(CTRC):c.231_232insG (p.Asn78fs)
NM_007272.3(CTRC):c.308del (p.Gly103fs) rs773119534
NM_007272.3(CTRC):c.480G>A (p.Trp160Ter) rs2526297442
NM_007272.3(CTRC):c.494-1G>A rs766917452
NM_007272.3(CTRC):c.494-2A>G rs1708187577
NM_007272.3(CTRC):c.520C>T (p.Gln174Ter) rs1290349619
NM_007272.3(CTRC):c.615C>T (p.Gly205=) rs756236720
NM_007272.3(CTRC):c.642G>A (p.Gly214=) rs1265655451
NM_007272.3(CTRC):c.649G>C (p.Gly217Arg) rs202058123
NM_007272.3(CTRC):c.716C>G (p.Ser239Cys)
NM_007272.3(CTRC):c.737G>T (p.Arg246Leu) rs147925927
NM_007272.3(CTRC):c.788A>G (p.Asn263Ser) rs769975164

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