ClinVar Miner

Variants in gene PHYH 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
391 26 0 12 8 0 4 20

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 3 1 0 0
likely pathogenic 3 0 2 2 1
uncertain significance 1 2 0 8 1
likely benign 0 2 8 0 9
benign 0 1 1 9 0

All variants with conflicting interpretations #

Total variants: 20
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_006214.4(PHYH):c.153C>T (p.Asn51=) rs1747682 0.96869
NM_006214.4(PHYH):c.636A>G (p.Thr212=) rs473407 0.28866
NM_006214.4(PHYH):c.85C>T (p.Pro29Ser) rs28938169 0.15001
NM_006214.4(PHYH):c.678+15C>T rs140995522 0.00717
NM_006214.4(PHYH):c.734G>A (p.Arg245Gln) rs62619919 0.00690
NM_006214.4(PHYH):c.126A>G (p.Gln42=) rs150631501 0.00371
NM_006214.4(PHYH):c.717C>T (p.Tyr239=) rs142720126 0.00243
NM_006214.4(PHYH):c.1010_1012dup (p.Asn337_Leu338insHis) rs566116760 0.00167
NM_006214.4(PHYH):c.356C>T (p.Thr119Met) rs34571629 0.00155
NM_006214.4(PHYH):c.244C>G (p.Arg82Gly) rs145404396 0.00140
NM_006214.4(PHYH):c.601C>G (p.Arg201Gly) rs143957922 0.00124
NM_006214.4(PHYH):c.321G>A (p.Ser107=) rs115198308 0.00106
NM_006214.4(PHYH):c.568G>A (p.Val190Ile) rs146190978 0.00071
NM_006214.4(PHYH):c.678+5G>T rs201499815 0.00049
NM_006214.4(PHYH):c.606C>A (p.Asn202Lys) rs201979258 0.00015
NM_006214.4(PHYH):c.823C>T (p.Arg275Trp) rs104894178 0.00007
NM_006214.4(PHYH):c.497-2A>G rs144169488 0.00004
NM_006214.4(PHYH):c.530A>G (p.Asp177Gly) rs770262329 0.00004
NM_006214.4(PHYH):c.610G>A (p.Gly204Ser) rs104894173 0.00001
NM_006214.4(PHYH):c.415-11dup rs140309981

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