ClinVar Miner

Variants with conflicting interpretations studied for PIEZO1-related condition

Minimum review status of the submission for PIEZO1-related condition: Collection method of the submission for PIEZO1-related condition:
Minimum review status of the other submission: Collection method of the other submission:
Minimum conflict level:
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
111 67 0 38 41 1 2 71

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
PIEZO1-related condition pathogenic likely pathogenic uncertain significance likely benign benign affects
likely pathogenic 2 0 0 0 0 0
uncertain significance 1 1 0 2 8 1
likely benign 0 0 31 0 27 0
benign 0 0 1 9 0 0

Condition to condition summary #

Total conditions: 4
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
not provided 0 69 0 36 41 0 1 68
not specified 0 5 0 3 3 0 0 6
Blood group, ER 0 0 0 0 0 1 0 1
ER BLOOD GROUP SYSTEM, ER(a-b-) 0 0 0 0 0 0 1 1

All variants with conflicting interpretations #

Total variants: 71
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HGVS dbSNP gnomAD frequency
NM_001142864.4(PIEZO1):c.2992-23A>G rs76070043 0.14300
NM_001142864.4(PIEZO1):c.5828G>A (p.Arg1943Gln) rs115799619 0.00868
NM_001142864.4(PIEZO1):c.1702C>T (p.Leu568=) rs114584865 0.00796
NM_001142864.4(PIEZO1):c.7505A>G (p.Lys2502Arg) rs34830861 0.00599
NM_001142864.4(PIEZO1):c.4495+4C>T rs140520334 0.00562
NM_001142864.4(PIEZO1):c.7041C>T (p.Asp2347=) rs34352064 0.00535
NM_001142864.4(PIEZO1):c.5694G>C (p.Glu1898Asp) rs201829917 0.00472
NM_001142864.4(PIEZO1):c.2865G>A (p.Gln955=) rs35597347 0.00444
NM_001142864.4(PIEZO1):c.2423G>A (p.Arg808Gln) rs202103485 0.00418
NM_001142864.4(PIEZO1):c.2344G>A (p.Gly782Ser) rs200970763 0.00414
NM_001142864.4(PIEZO1):c.3928G>A (p.Val1310Ile) rs34606201 0.00322
NM_001142864.4(PIEZO1):c.4580G>A (p.Arg1527His) rs148870219 0.00229
NM_001142864.4(PIEZO1):c.7426C>T (p.Arg2476Cys) rs144035770 0.00225
NM_001142864.4(PIEZO1):c.1998-10C>T rs74033378 0.00209
NM_001142864.4(PIEZO1):c.985C>G (p.Leu329Val) rs114507258 0.00194
NM_001142864.4(PIEZO1):c.5883T>C (p.Tyr1961=) rs115213894 0.00185
NM_001142864.4(PIEZO1):c.5728G>A (p.Glu1910Lys) rs200929552 0.00156
NM_001142864.4(PIEZO1):c.2409G>C (p.Gln803His) rs200029740 0.00147
NM_001142864.4(PIEZO1):c.5963C>T (p.Ala1988Val) rs556192193 0.00137
NM_001142864.4(PIEZO1):c.3793G>A (p.Asp1265Asn) rs570106950 0.00136
NM_001142864.4(PIEZO1):c.1270T>C (p.Tyr424His) rs759627248 0.00103
NM_001142864.4(PIEZO1):c.94C>A (p.Leu32Met) rs370663645 0.00091
NM_001142864.4(PIEZO1):c.1688C>T (p.Thr563Met) rs192347853 0.00067
NM_001142864.4(PIEZO1):c.3699+6C>T rs147726156 0.00060
NM_001142864.4(PIEZO1):c.4955+8C>T rs533263001 0.00058
NM_001142864.4(PIEZO1):c.4274G>A (p.Ser1425Asn) rs772788410 0.00050
NM_001142864.4(PIEZO1):c.7174G>A (p.Glu2392Lys) rs528448732 0.00048
NM_001142864.4(PIEZO1):c.5214+7C>T rs764990602 0.00047
NM_001142864.4(PIEZO1):c.6781A>G (p.Ser2261Gly) rs550322372 0.00047
NM_001142864.4(PIEZO1):c.6804G>A (p.Ala2268=) rs371847339 0.00045
NM_001142864.4(PIEZO1):c.1107+1G>C rs199524784 0.00041
NM_001142864.4(PIEZO1):c.6307C>G (p.Leu2103Val) rs531972155 0.00038
NM_001142864.4(PIEZO1):c.4252T>C (p.Tyr1418His) rs147153006 0.00036
NM_001142864.4(PIEZO1):c.7471C>T (p.Arg2491Trp) rs201746476 0.00030
NM_001142864.4(PIEZO1):c.284-4G>A rs543289166 0.00019
NM_001142864.4(PIEZO1):c.4662C>T (p.Leu1554=) rs751557941 0.00016
NM_001142864.4(PIEZO1):c.6829C>A (p.Leu2277Met) rs563555492 0.00016
NM_001142864.4(PIEZO1):c.3340C>G (p.Gln1114Glu) rs373706590 0.00014
NM_001142864.4(PIEZO1):c.1370G>A (p.Arg457His) rs371267171 0.00011
NM_001142864.4(PIEZO1):c.4439-8G>T rs777304709 0.00010
NM_001142864.4(PIEZO1):c.6705C>T (p.Phe2235=) rs747798306 0.00010
NM_001142864.4(PIEZO1):c.5790C>G (p.Phe1930Leu) rs750027720 0.00009
NM_001142864.4(PIEZO1):c.5865C>T (p.Arg1955=) rs367814129 0.00006
NM_001142864.4(PIEZO1):c.6471+9G>A rs761913079 0.00003
NM_001142864.4(PIEZO1):c.6879C>T (p.Tyr2293=) rs558982192 0.00002
NM_001142864.4(PIEZO1):c.3331C>T (p.Gln1111Ter) rs1161335800 0.00001
NM_001142864.4(PIEZO1):c.4744G>A (p.Glu1582Lys) rs1040063411 0.00001
NM_001142864.4(PIEZO1):c.645C>G (p.His215Gln) rs559847737 0.00001
NM_001142864.4(PIEZO1):c.7130-5C>A rs1357808025 0.00001
NM_001142864.4(PIEZO1):c.1107+6C>T
NM_001142864.4(PIEZO1):c.1333G>A (p.Val445Ile) rs902069811
NM_001142864.4(PIEZO1):c.2132T>A (p.Met711Lys)
NM_001142864.4(PIEZO1):c.2233CAG[6] (p.Gln749_Glu750insGln)
NM_001142864.4(PIEZO1):c.2247GGA[10] (p.Glu756_Asp757insGluGlu)
NM_001142864.4(PIEZO1):c.2247GGA[6] (p.Glu755_Glu756del) rs59446030
NM_001142864.4(PIEZO1):c.2652C>T (p.Ser884=)
NM_001142864.4(PIEZO1):c.2673C>T (p.Pro891=)
NM_001142864.4(PIEZO1):c.2982C>G (p.Phe994Leu) rs374262841
NM_001142864.4(PIEZO1):c.3312C>T (p.Leu1104=)
NM_001142864.4(PIEZO1):c.3373C>T (p.Gln1125Ter)
NM_001142864.4(PIEZO1):c.3416G>A (p.Arg1139Gln) rs747323210
NM_001142864.4(PIEZO1):c.3969-8C>G
NM_001142864.4(PIEZO1):c.4623C>A (p.Asp1541Glu) rs748928863
NM_001142864.4(PIEZO1):c.469G>C (p.Asp157His)
NM_001142864.4(PIEZO1):c.4743C>T (p.Thr1581=)
NM_001142864.4(PIEZO1):c.5012G>A (p.Arg1671Gln)
NM_001142864.4(PIEZO1):c.5139C>T (p.Leu1713=) rs369279313
NM_001142864.4(PIEZO1):c.6494AGA[4] (p.Lys2169del) rs763477215
NM_001142864.4(PIEZO1):c.6886A>C (p.Thr2296Pro)
NM_001142864.4(PIEZO1):c.7007G>A (p.Arg2336Gln)
NM_001142864.4(PIEZO1):c.7365G>A (p.Val2455=)

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