ClinVar Miner

Variants in gene OPHN1 with conflicting interpretations

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
346 13 0 27 10 0 0 35

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.

uncertain significance likely benign benign
uncertain significance 0 9 3
likely benign 9 0 27
benign 3 27 0

All variants with conflicting interpretations #

Total variants: 35
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_002547.3(OPHN1):c.702+29G>A rs3788859 0.11700
NM_002547.3(OPHN1):c.115G>A (p.Val39Ile) rs41303733 0.05862
NM_002547.3(OPHN1):c.902C>T (p.Thr301Met) rs138108344 0.00403
NM_002547.3(OPHN1):c.2079G>A (p.Met693Ile) rs36095561 0.00385
NM_002547.3(OPHN1):c.2056C>T (p.Pro686Ser) rs139691746 0.00214
NM_002547.3(OPHN1):c.133G>A (p.Ala45Thr) rs148262378 0.00135
NM_002547.3(OPHN1):c.1839A>G (p.Glu613=) rs146588152 0.00129
NM_002547.3(OPHN1):c.702+11A>C rs375325266 0.00125
NM_002547.3(OPHN1):c.832+16G>A rs199794620 0.00121
NM_002547.3(OPHN1):c.2029C>A (p.Leu677Met) rs143713841 0.00118
NM_002547.3(OPHN1):c.237T>C (p.Asp79=) rs143062911 0.00052
NM_002547.3(OPHN1):c.1506T>A (p.Leu502=) rs142413712 0.00044
NM_002547.3(OPHN1):c.315A>G (p.Val105=) rs770804956 0.00027
NM_002547.3(OPHN1):c.2362C>T (p.Arg788Trp) rs148208753 0.00017
NM_002547.3(OPHN1):c.2062G>T (p.Ala688Ser) rs199985543 0.00013
NM_002547.3(OPHN1):c.1184A>G (p.Asn395Ser) rs150084635 0.00012
NM_002547.3(OPHN1):c.12C>G (p.Pro4=) rs139546241 0.00012
NM_002547.3(OPHN1):c.312+13C>T rs374643845 0.00012
NM_002547.3(OPHN1):c.2168A>G (p.Asp723Gly) rs374431961 0.00011
NM_002547.3(OPHN1):c.2135G>A (p.Arg712Gln) rs200508660 0.00010
NM_002547.3(OPHN1):c.1830C>T (p.Ser610=) rs368803937 0.00008
NM_002547.3(OPHN1):c.1722G>A (p.Pro574=) rs752918613 0.00005
NM_002547.3(OPHN1):c.702+8T>C rs369382527 0.00005
NM_002547.3(OPHN1):c.1008C>T (p.Asp336=) rs780149034 0.00003
NM_002547.3(OPHN1):c.2132C>T (p.Pro711Leu) rs1030545345 0.00002
NM_002547.3(OPHN1):c.333G>A (p.Leu111=) rs765654561 0.00002
NM_002547.3(OPHN1):c.1391G>C (p.Arg464Thr) rs753866423 0.00001
NM_002547.3(OPHN1):c.2307G>A (p.Gly769=) rs748176965 0.00001
NM_002547.3(OPHN1):c.2316A>G (p.Thr772=) rs1403350105 0.00001
NM_002547.3(OPHN1):c.1686+6C>T rs967522314
NM_002547.3(OPHN1):c.1749A>C (p.Ala583=) rs35137641
NM_002547.3(OPHN1):c.2007C>T (p.Asp669=)
NM_002547.3(OPHN1):c.249C>T (p.Ile83=) rs143598006
NM_002547.3(OPHN1):c.360G>A (p.Arg120=) rs727504062
NM_002547.3(OPHN1):c.903G>A (p.Thr301=)

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