ClinVar Miner

Variants in gene MTTP 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
993 49 0 26 14 0 1 38

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 2 0 0 0
likely pathogenic 2 0 1 0 0
uncertain significance 0 1 0 11 5
likely benign 0 0 11 0 24
benign 0 0 5 24 0

All variants with conflicting interpretations #

Total variants: 38
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001386140.1(MTTP):c.453T>C (p.Gly151=) rs991811 0.47516
NM_001386140.1(MTTP):c.891C>G (p.His297Gln) rs2306985 0.47212
NM_001386140.1(MTTP):c.383T>C (p.Ile128Thr) rs3816873 0.26064
NM_001386140.1(MTTP):c.522T>C (p.Cys174=) rs982424 0.12209
NM_001386140.1(MTTP):c.969T>C (p.Ala323=) rs17533489 0.10642
NM_001386140.1(MTTP):c.294G>C (p.Glu98Asp) rs2306986 0.08726
NM_001386140.1(MTTP):c.497A>G (p.Asn166Ser) rs3792683 0.08314
NM_001386140.1(MTTP):c.1151A>C (p.Asp384Ala) rs17029215 0.07361
NM_001386140.1(MTTP):c.730C>G (p.Gln244Glu) rs17599091 0.03958
NM_001386140.1(MTTP):c.1981G>A (p.Gly661Ser) rs113337987 0.02355
NM_001386140.1(MTTP):c.660T>C (p.Tyr220=) rs113557405 0.02353
NM_001386140.1(MTTP):c.136C>G (p.Arg46Gly) rs141736123 0.01357
NM_001386140.1(MTTP):c.2636A>G (p.Lys879Arg) rs114049933 0.01021
NM_001386140.1(MTTP):c.502G>A (p.Val168Ile) rs61750974 0.00763
NM_001386140.1(MTTP):c.2043G>A (p.Glu681=) rs145444300 0.00389
NM_001386140.1(MTTP):c.1731C>T (p.Ala577=) rs112506924 0.00290
NM_001386140.1(MTTP):c.-6G>A rs41275707 0.00276
NM_001386140.1(MTTP):c.2673C>T (p.Ser891=) rs115222767 0.00236
NM_001386140.1(MTTP):c.419A>G (p.Asn140Ser) rs61733140 0.00170
NM_001386140.1(MTTP):c.2433G>C (p.Leu811Phe) rs144590904 0.00141
NM_001386140.1(MTTP):c.2025C>T (p.Ile675=) rs79023226 0.00123
NM_001386140.1(MTTP):c.972G>A (p.Glu324=) rs146953015 0.00111
NM_001386140.1(MTTP):c.1874C>T (p.Pro625Leu) rs146045390 0.00049
NM_001386140.1(MTTP):c.1023A>G (p.Lys341=) rs145724674 0.00040
NM_001386140.1(MTTP):c.111G>A (p.Thr37=) rs147921439 0.00028
NM_001386140.1(MTTP):c.2657C>T (p.Pro886Leu) rs144600401 0.00028
NM_001386140.1(MTTP):c.95G>A (p.Arg32Gln) rs199537553 0.00010
NM_001386140.1(MTTP):c.130C>G (p.Leu44Val) rs779068565 0.00009
NM_001386140.1(MTTP):c.915G>A (p.Ser305=) rs199716549 0.00006
NM_001386140.1(MTTP):c.1618C>T (p.Arg540Cys) rs372321643 0.00004
NM_001386140.1(MTTP):c.1619G>A (p.Arg540His) rs199422220 0.00004
NM_001386140.1(MTTP):c.2320T>G (p.Ser774Ala) rs148362467 0.00003
NM_001386140.1(MTTP):c.1877G>A (p.Arg626His) rs568076672 0.00001
NM_001386140.1(MTTP):c.1715A>G (p.Asn572Ser) rs772602972
NM_001386140.1(MTTP):c.1770-3C>T
NM_001386140.1(MTTP):c.399dup (p.Glu134fs)
NM_001386140.1(MTTP):c.490A>G (p.Thr164Ala) rs563558722
NM_001386140.1(MTTP):c.854C>T (p.Thr285Met) rs566965111

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