ClinVar Miner

Variants in gene P3H1 with conflicting interpretations

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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
709 82 0 19 30 0 1 45

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 10 0 0 0
likely pathogenic 10 0 1 0 0
uncertain significance 0 1 0 16 18
likely benign 0 0 16 0 9
benign 0 0 18 9 0

All variants with conflicting interpretations #

Total variants: 45
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_022356.4(P3H1):c.*77C>T rs13871 0.06035
NM_022356.4(P3H1):c.1045G>A (p.Gly349Arg) rs6700677 0.06024
NM_022356.4(P3H1):c.1647G>A (p.Met549Ile) rs11581921 0.05897
NM_022356.4(P3H1):c.139G>T (p.Ala47Ser) rs55716016 0.04262
NM_022356.4(P3H1):c.1284C>T (p.Ile428=) rs61746642 0.01592
NM_022356.4(P3H1):c.1026C>T (p.Ala342=) rs61100157 0.01581
NM_022356.4(P3H1):c.1569+3A>G rs76871760 0.01579
NM_022356.4(P3H1):c.1812C>T (p.Pro604=) rs34809608 0.01577
NM_022356.4(P3H1):c.978C>T (p.Thr326=) rs74070022 0.01251
NM_022356.4(P3H1):c.1233G>A (p.Arg411=) rs61746653 0.01103
NM_022356.4(P3H1):c.2055+70G>T rs115690038 0.00864
NM_022356.4(P3H1):c.611C>A (p.Pro204His) rs77208721 0.00751
NM_022356.4(P3H1):c.940+90A>G rs114545255 0.00700
NM_022356.4(P3H1):c.-45C>T rs183564323 0.00663
NM_022356.4(P3H1):c.1322A>G (p.Asp441Gly) rs113593896 0.00341
NM_022356.4(P3H1):c.1930C>A (p.Gln644Lys) rs3738497 0.00321
NM_022356.4(P3H1):c.1473+5G>T rs114044880 0.00294
NM_022356.4(P3H1):c.1501C>T (p.Arg501Trp) rs115108794 0.00209
NM_022356.4(P3H1):c.1504G>C (p.Gly502Arg) rs139259804 0.00103
NM_022356.4(P3H1):c.1529A>G (p.Asn510Ser) rs149894086 0.00092
NM_022356.4(P3H1):c.2147G>C (p.Gly716Ala) rs573577299 0.00068
NM_022356.4(P3H1):c.2152C>G (p.Pro718Ala) rs533729683 0.00038
NM_022356.4(P3H1):c.1720+4G>A rs371232413 0.00031
NM_022356.4(P3H1):c.693G>A (p.Ala231=) rs149113630 0.00027
NM_022356.4(P3H1):c.1428C>T (p.Gly476=) rs141786883 0.00022
NM_022356.4(P3H1):c.1721-4C>T rs200901466 0.00015
NM_022356.4(P3H1):c.327C>T (p.Phe109=) rs370773974 0.00009
NM_022356.4(P3H1):c.1626G>A (p.Thr542=) rs577059613 0.00007
NM_022356.4(P3H1):c.756C>T (p.Tyr252=) rs770943260 0.00006
NM_022356.4(P3H1):c.2055+18G>A rs137853890 0.00003
NM_022356.4(P3H1):c.2164C>A (p.Gln722Lys) rs771006240 0.00003
NM_022356.4(P3H1):c.1620C>T (p.Asn540=) rs140334418 0.00002
NM_022356.4(P3H1):c.1944C>T (p.Ala648=) rs760909376 0.00002
NM_022356.4(P3H1):c.1096C>T (p.Arg366Ter) rs752575140 0.00001
NM_022356.4(P3H1):c.1120G>T (p.Glu374Ter) rs140468248
NM_022356.4(P3H1):c.1383_1389dup (p.Lys464fs)
NM_022356.4(P3H1):c.1839-2A>C rs755665899
NM_022356.4(P3H1):c.2041C>T (p.Arg681Ter) rs72659356
NM_022356.4(P3H1):c.2055+13C>G rs76628300
NM_022356.4(P3H1):c.2131dup (p.Leu711fs) rs1570452407
NM_022356.4(P3H1):c.2148= (p.Gly716=) rs4660662
NM_022356.4(P3H1):c.2174_2177del (p.Leu725fs) rs1570452214
NM_022356.4(P3H1):c.570_571del (p.Gly191fs) rs1553143741
NM_022356.4(P3H1):c.572del (p.Gly191fs)
NM_022356.4(P3H1):c.640C>T (p.Arg214Ter)

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