ClinVar Miner

Variants in gene PHEX 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
743 62 0 23 7 1 16 40

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 protective other
pathogenic 0 10 7 1 6 1 1
likely pathogenic 9 0 6 0 0 0 0
uncertain significance 6 6 0 4 4 0 0
likely benign 0 0 4 0 13 0 0
benign 5 0 4 13 0 0 0

All variants with conflicting interpretations #

Total variants: 40
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000444.6(PHEX):c.489A>G (p.Ser163=) rs140231382 0.00748
NM_000444.6(PHEX):c.1344C>T (p.Asp448=) rs144911719 0.00247
NM_000444.6(PHEX):c.903C>T (p.Asn301=) rs142755818 0.00101
NM_000444.6(PHEX):c.81C>T (p.Val27=) rs139862893 0.00082
NM_000444.6(PHEX):c.849+3A>G rs200585038 0.00070
NM_000444.6(PHEX):c.1482+16A>C rs376298942 0.00034
NM_000444.6(PHEX):c.10G>C (p.Glu4Gln) rs147859619 0.00030
NM_000444.6(PHEX):c.1202C>T (p.Pro401Leu) rs145778165 0.00021
NM_000444.6(PHEX):c.185C>T (p.Ala62Val) rs145393882 0.00012
NM_000444.6(PHEX):c.505G>A (p.Val169Met) rs187824835 0.00009
NM_000444.6(PHEX):c.118+7G>T rs534550003 0.00006
NM_000444.6(PHEX):c.1405-4del rs746671817 0.00006
NM_000444.6(PHEX):c.1461T>C (p.His487=) rs765101791 0.00005
NM_000444.6(PHEX):c.1359A>C (p.Glu453Asp) rs202164519 0.00004
NM_000444.6(PHEX):c.598A>G (p.Asn200Asp) rs1293482406 0.00003
NM_000444.6(PHEX):c.1037A>G (p.Tyr346Cys) rs1556026033
NM_000444.6(PHEX):c.1241del (p.Leu414fs) rs886041446
NM_000444.6(PHEX):c.1302+1G>T rs1131691841
NM_000444.6(PHEX):c.1324G>T (p.Val442Phe) rs777167473
NM_000444.6(PHEX):c.1366T>C (p.Trp456Arg) rs1085308012
NM_000444.6(PHEX):c.1368G>C (p.Trp456Cys) rs886043680
NM_000444.6(PHEX):c.1382C>A (p.Thr461Lys) rs374873766
NM_000444.6(PHEX):c.1406C>A (p.Ala469Glu) rs375593493
NM_000444.6(PHEX):c.1482+1G>A rs1064793228
NM_000444.6(PHEX):c.1559G>A (p.Trp520Ter)
NM_000444.6(PHEX):c.1586+3_1586+6del rs886042234
NM_000444.6(PHEX):c.1645C>T (p.Arg549Ter) rs886041224
NM_000444.6(PHEX):c.208_212del (p.Val70fs) rs1927568587
NM_000444.6(PHEX):c.332_334del (p.Val111del) rs1064795949
NM_000444.6(PHEX):c.349+1G>C rs193922459
NM_000444.6(PHEX):c.399G>A (p.Gln133=) rs1602273860
NM_000444.6(PHEX):c.425G>C (p.Cys142Ser) rs1064797048
NM_000444.6(PHEX):c.436+4A>G rs1057520344
NM_000444.6(PHEX):c.499T>C (p.Trp167Arg) rs1064796435
NM_000444.6(PHEX):c.591A>G (p.Gln197=) rs1556020818
NM_000444.6(PHEX):c.840G>A (p.Lys280=)
NM_000444.6(PHEX):c.850-2A>G rs1064793226
NM_000444.6(PHEX):c.871C>T (p.Arg291Ter) rs866429868
NM_000444.6(PHEX):c.914T>G (p.Leu305Arg) rs1064796929
Single allele

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