ClinVar Miner

Variants in gene BMPR1A 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
1797 362 4 35 87 0 8 121

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 8 0 0
uncertain significance 1 8 3 51 44
likely benign 0 0 51 0 31
benign 0 0 44 31 1

All variants with conflicting interpretations #

Total variants: 121
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_004329.3(BMPR1A):c.4C>A (p.Pro2Thr) rs11528010 0.40719
NM_004329.3(BMPR1A):c.431-26T>A rs7920259 0.06507
NM_004329.3(BMPR1A):c.435G>A (p.Pro145=) rs11818239 0.04296
NM_004329.3(BMPR1A):c.1140C>T (p.Asp380=) rs35572415 0.01512
NM_004329.3(BMPR1A):c.618A>G (p.Leu206=) rs55992440 0.00257
NM_004329.3(BMPR1A):c.777G>A (p.Ala259=) rs56108371 0.00192
NM_004329.3(BMPR1A):c.1299C>T (p.Phe433=) rs150946485 0.00153
NM_004329.3(BMPR1A):c.1560G>A (p.Thr520=) rs142775086 0.00136
NM_004329.3(BMPR1A):c.1395G>C (p.Pro465=) rs55845713 0.00089
NM_004329.3(BMPR1A):c.1327C>T (p.Arg443Cys) rs35619497 0.00081
NM_004329.3(BMPR1A):c.1419T>G (p.Val473=) rs145756629 0.00058
NM_004329.3(BMPR1A):c.1243G>A (p.Glu415Lys) rs140592056 0.00051
NM_004329.3(BMPR1A):c.1433G>A (p.Arg478His) rs113849804 0.00025
NM_004329.3(BMPR1A):c.1235T>C (p.Val412Ala) rs576247658 0.00014
NM_004329.3(BMPR1A):c.676-6A>C rs186999445 0.00014
NM_004329.3(BMPR1A):c.961C>T (p.Leu321=) rs377412651 0.00011
NM_004329.3(BMPR1A):c.98C>G (p.Thr33Ser) rs142454490 0.00011
NM_004329.3(BMPR1A):c.1348G>A (p.Val450Met) rs55932635 0.00009
NM_004329.3(BMPR1A):c.33G>A (p.Leu11=) rs535411352 0.00009
NM_004329.3(BMPR1A):c.478A>G (p.Met160Val) rs145101532 0.00007
NM_004329.3(BMPR1A):c.499A>G (p.Met167Val) rs200951235 0.00007
NM_004329.3(BMPR1A):c.118G>A (p.Asp40Asn) rs587781556 0.00006
NM_004329.3(BMPR1A):c.1520A>G (p.Asn507Ser) rs750840234 0.00006
NM_004329.3(BMPR1A):c.83G>A (p.Ser28Asn) rs371904636 0.00005
NM_004329.3(BMPR1A):c.1216C>T (p.Arg406Cys) rs587781332 0.00004
NM_004329.3(BMPR1A):c.140G>A (p.Gly47Glu) rs368595543 0.00004
NM_004329.3(BMPR1A):c.1474-10T>C rs369633360 0.00004
NM_004329.3(BMPR1A):c.1474-9A>G rs372031054 0.00004
NM_004329.3(BMPR1A):c.1498A>G (p.Met500Val) rs376651641 0.00004
NM_004329.3(BMPR1A):c.383A>G (p.Asn128Ser) rs375165807 0.00004
NM_004329.3(BMPR1A):c.760C>T (p.Arg254Cys) rs587782578 0.00004
NM_004329.3(BMPR1A):c.1420G>C (p.Val474Leu) rs567733221 0.00003
NM_004329.3(BMPR1A):c.1596C>G (p.Ile532Met) rs201345248 0.00003
NM_004329.3(BMPR1A):c.198C>T (p.His66=) rs150493865 0.00003
NM_004329.3(BMPR1A):c.437T>C (p.Phe146Ser) rs587778112 0.00003
NM_004329.3(BMPR1A):c.510C>T (p.Phe170=) rs747266339 0.00003
NM_004329.3(BMPR1A):c.68-12A>G rs201120747 0.00003
NM_004329.3(BMPR1A):c.-8A>G rs546681014 0.00002
NM_004329.3(BMPR1A):c.1048T>C (p.Tyr350His) rs749571434 0.00002
NM_004329.3(BMPR1A):c.1300G>A (p.Gly434Ser) rs587780108 0.00002
NM_004329.3(BMPR1A):c.1333A>G (p.Ile445Val) rs587781503 0.00002
NM_004329.3(BMPR1A):c.27A>G (p.Arg9=) rs751420248 0.00002
NM_004329.3(BMPR1A):c.455G>A (p.Arg152Gln) rs567009904 0.00002
NM_004329.3(BMPR1A):c.560G>A (p.Arg187His) rs189059377 0.00002
NM_004329.3(BMPR1A):c.568A>G (p.Asn190Asp) rs771444196 0.00002
NM_004329.3(BMPR1A):c.587A>G (p.Asp196Gly) rs141608069 0.00002
NM_004329.3(BMPR1A):c.731G>A (p.Arg244Gln) rs147971049 0.00002
NM_004329.3(BMPR1A):c.94G>C (p.Gly32Arg) rs755462552 0.00002
NM_004329.3(BMPR1A):c.-6T>C rs1047677696 0.00001
NM_004329.3(BMPR1A):c.1059A>G (p.Gln353=) rs1060503407 0.00001
NM_004329.3(BMPR1A):c.1081C>G (p.Arg361Gly) rs764466442 0.00001
NM_004329.3(BMPR1A):c.1153G>A (p.Val385Ile) rs1060503396 0.00001
NM_004329.3(BMPR1A):c.1191C>G (p.Pro397=) rs751078831 0.00001
NM_004329.3(BMPR1A):c.1215A>C (p.Lys405Asn) rs587781522 0.00001
NM_004329.3(BMPR1A):c.1274A>T (p.Tyr425Phe) rs758599378 0.00001
NM_004329.3(BMPR1A):c.1324C>T (p.Arg442Cys) rs587782496 0.00001
NM_004329.3(BMPR1A):c.1343-3T>C rs771504880 0.00001
NM_004329.3(BMPR1A):c.1379T>C (p.Met460Thr) rs758309022 0.00001
NM_004329.3(BMPR1A):c.1398A>C (p.Ser466=) rs56410735 0.00001
NM_004329.3(BMPR1A):c.1412G>A (p.Arg471His) rs779371501 0.00001
NM_004329.3(BMPR1A):c.1430A>G (p.Lys477Arg) rs767995260 0.00001
NM_004329.3(BMPR1A):c.1432C>T (p.Arg478Cys) rs372178531 0.00001
NM_004329.3(BMPR1A):c.1513G>A (p.Ala505Thr) rs369966011 0.00001
NM_004329.3(BMPR1A):c.1536C>T (p.Leu512=) rs758796892 0.00001
NM_004329.3(BMPR1A):c.1549A>G (p.Ile517Val) rs754607465 0.00001
NM_004329.3(BMPR1A):c.22A>G (p.Ile8Val) rs863224719 0.00001
NM_004329.3(BMPR1A):c.230+37G>A rs201927554 0.00001
NM_004329.3(BMPR1A):c.524G>A (p.Cys175Tyr) rs370091063 0.00001
NM_004329.3(BMPR1A):c.559C>T (p.Arg187Cys) rs587782231 0.00001
NM_004329.3(BMPR1A):c.562C>T (p.Arg188Cys) rs879254272 0.00001
NM_004329.3(BMPR1A):c.572G>A (p.Arg191His) rs746231785 0.00001
NM_004329.3(BMPR1A):c.59G>A (p.Arg20His) rs759014147 0.00001
NM_004329.3(BMPR1A):c.5C>T (p.Pro2Leu) rs143248687 0.00001
NM_004329.3(BMPR1A):c.628A>G (p.Ile210Val) rs750274275 0.00001
NM_004329.3(BMPR1A):c.634C>A (p.Gln212Lys) rs876658138 0.00001
NM_004329.3(BMPR1A):c.676-5T>C rs200537780 0.00001
NM_004329.3(BMPR1A):c.676G>T (p.Val226Phe) rs587780110 0.00001
NM_004329.3(BMPR1A):c.682C>A (p.Arg228=) rs587782682 0.00001
NM_004329.3(BMPR1A):c.688A>G (p.Ile230Val) rs730881433 0.00001
NM_004329.3(BMPR1A):c.713G>A (p.Arg238Gln) rs191742018 0.00001
NM_004329.3(BMPR1A):c.749T>C (p.Met250Thr) rs587780783 0.00001
NM_004329.3(BMPR1A):c.74A>G (p.Asn25Ser) rs1060503410 0.00001
NM_004329.3(BMPR1A):c.751G>T (p.Gly251Cys) rs750513716 0.00001
NM_004329.3(BMPR1A):c.818G>A (p.Arg273Gln) rs762178061 0.00001
NM_004329.3(BMPR1A):c.869-4A>C rs964020576 0.00001
NM_004329.3(BMPR1A):c.97A>G (p.Thr33Ala) rs748515167 0.00001
NM_004329.3(BMPR1A):c.987A>C (p.Arg329Ser) rs753521037 0.00001
NM_004329.3(BMPR1A):c.103A>G (p.Met35Val) rs1043850286
NM_004329.3(BMPR1A):c.1328G>A (p.Arg443His) rs876659155
NM_004329.3(BMPR1A):c.1330T>C (p.Cys444Arg) rs774061725
NM_004329.3(BMPR1A):c.1343-5T>C rs1554891558
NM_004329.3(BMPR1A):c.1394del (p.Pro465fs)
NM_004329.3(BMPR1A):c.1395G>A (p.Pro465=) rs55845713
NM_004329.3(BMPR1A):c.1409T>C (p.Met470Thr) rs199476089
NM_004329.3(BMPR1A):c.1508G>A (p.Cys503Tyr) rs869312790
NM_004329.3(BMPR1A):c.1573G>A (p.Val525Ile) rs769233029
NM_004329.3(BMPR1A):c.1A>C (p.Met1Leu) rs786203157
NM_004329.3(BMPR1A):c.231-10dup rs747206781
NM_004329.3(BMPR1A):c.231-9C>A rs763313220
NM_004329.3(BMPR1A):c.231-9C>T rs763313220
NM_004329.3(BMPR1A):c.233C>T (p.Thr78Ile) rs1064793490
NM_004329.3(BMPR1A):c.297G>T (p.Gly99=) rs1251509897
NM_004329.3(BMPR1A):c.333+6A>T rs1473659802
NM_004329.3(BMPR1A):c.355C>T (p.Arg119Cys) rs587782494
NM_004329.3(BMPR1A):c.356G>A (p.Arg119His) rs1554888965
NM_004329.3(BMPR1A):c.415C>T (p.Pro139Ser) rs772163112
NM_004329.3(BMPR1A):c.430+10C>T rs863224395
NM_004329.3(BMPR1A):c.431-30A>G
NM_004329.3(BMPR1A):c.499A>T (p.Met167Leu) rs200951235
NM_004329.3(BMPR1A):c.49A>C (p.Ile17Leu) rs778886055
NM_004329.3(BMPR1A):c.505A>T (p.Ile169Phe) rs878854668
NM_004329.3(BMPR1A):c.676-1G>A rs1554890734
NM_004329.3(BMPR1A):c.712C>G (p.Arg238Gly) rs747728399
NM_004329.3(BMPR1A):c.712C>T (p.Arg238Trp) rs747728399
NM_004329.3(BMPR1A):c.729C>T (p.Gly243=) rs770821763
NM_004329.3(BMPR1A):c.733T>A (p.Tyr245Asn) rs369012159
NM_004329.3(BMPR1A):c.869-9A>G rs2133588734
NM_004329.3(BMPR1A):c.943G>A (p.Gly315Arg) rs730881435
NM_004329.3(BMPR1A):c.953A>G (p.Tyr318Cys) rs587778111
NM_004329.3(BMPR1A):c.989C>T (p.Ala330Val) rs587782092
NM_004329.3(BMPR1A):c.993G>A (p.Leu331=) rs786202827

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