ClinVar Miner

Variants in gene PNPT1 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
673 78 0 17 17 0 6 37

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 2 0 0
likely pathogenic 2 0 5 0 0
uncertain significance 2 5 0 17 2
likely benign 0 0 17 0 15
benign 0 0 2 15 0

All variants with conflicting interpretations #

Total variants: 37
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_033109.5(PNPT1):c.1251G>A (p.Gly417=) rs146111948 0.00507
NM_033109.5(PNPT1):c.944A>G (p.Lys315Arg) rs35405862 0.00492
NM_033109.5(PNPT1):c.852G>C (p.Val284=) rs139091915 0.00259
NM_033109.5(PNPT1):c.688G>C (p.Glu230Gln) rs34928857 0.00131
NM_033109.5(PNPT1):c.1525G>A (p.Val509Ile) rs146571352 0.00109
NM_033109.5(PNPT1):c.1938G>A (p.Thr646=) rs201681772 0.00078
NM_033109.5(PNPT1):c.161+6G>C rs146068304 0.00056
NM_033109.5(PNPT1):c.223-9A>T rs202243908 0.00054
NM_033109.5(PNPT1):c.1099C>T (p.Leu367Phe) rs142840568 0.00029
NM_033109.5(PNPT1):c.1519G>T (p.Ala507Ser) rs143712760 0.00026
NM_033109.5(PNPT1):c.1795T>A (p.Ser599Thr) rs147375807 0.00026
NM_033109.5(PNPT1):c.1929T>C (p.Asp643=) rs149102879 0.00019
NM_033109.5(PNPT1):c.2148+6A>T rs374690825 0.00018
NM_033109.5(PNPT1):c.1619A>G (p.Asn540Ser) rs202190573 0.00010
NM_033109.5(PNPT1):c.40C>T (p.Arg14Trp) rs199712282 0.00010
NM_033109.5(PNPT1):c.516C>T (p.Gly172=) rs372627112 0.00009
NM_033109.5(PNPT1):c.1592C>G (p.Thr531Arg) rs374698153 0.00008
NM_033109.5(PNPT1):c.1771A>C (p.Lys591Gln) rs542676905 0.00008
NM_033109.5(PNPT1):c.789A>G (p.Val263=) rs76180666 0.00007
NM_033109.5(PNPT1):c.493C>T (p.Pro165Ser) rs151166046 0.00006
NM_033109.5(PNPT1):c.667A>G (p.Lys223Glu) rs752759589 0.00006
NM_033109.5(PNPT1):c.1725T>C (p.Ile575=) rs574251894 0.00004
NM_033109.5(PNPT1):c.1382T>C (p.Val461Ala) rs752666494 0.00003
NM_033109.5(PNPT1):c.1566T>A (p.Gly522=) rs754237697 0.00003
NM_033109.5(PNPT1):c.575G>A (p.Arg192Gln) rs772153760 0.00002
NM_033109.5(PNPT1):c.1923G>A (p.Gln641=) rs779794474 0.00001
NM_033109.5(PNPT1):c.2213G>A (p.Arg738His) rs574670461 0.00001
NM_033109.5(PNPT1):c.337C>T (p.Pro113Ser) rs930190521 0.00001
NM_033109.5(PNPT1):c.517G>A (p.Ala173Thr) rs774425075 0.00001
NM_033109.5(PNPT1):c.1231G>A (p.Val411Ile) rs551750608
NM_033109.5(PNPT1):c.1563G>A (p.Lys521=) rs863224169
NM_033109.5(PNPT1):c.2043A>G (p.Val681=) rs544405485
NM_033109.5(PNPT1):c.2148+8G>C
NM_033109.5(PNPT1):c.2149-13dup rs532500568
NM_033109.5(PNPT1):c.407G>A (p.Arg136His) rs746356243
NM_033109.5(PNPT1):c.454-18dup rs1064794498
NM_033109.5(PNPT1):c.739G>T (p.Val247Leu) rs574988767

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