ClinVar Miner

Variants in gene CDHR1 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
818 37 0 20 24 0 4 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
pathogenic 0 4 3 0 0
likely pathogenic 4 0 3 0 0
uncertain significance 3 3 0 21 9
likely benign 0 0 21 0 16
benign 0 0 9 16 0

All variants with conflicting interpretations #

Total variants: 40
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_033100.4(CDHR1):c.863-9C>T rs4933977 0.08466
NM_033100.4(CDHR1):c.2434C>T (p.Pro812Ser) rs45584033 0.03229
NM_033100.4(CDHR1):c.728C>T (p.Ala243Val) rs7086200 0.02804
NM_033100.4(CDHR1):c.486G>C (p.Arg162Ser) rs74145715 0.02792
NM_033100.4(CDHR1):c.1515C>T (p.Gly505=) rs116594644 0.01656
NM_033100.4(CDHR1):c.240C>T (p.Val80=) rs11593005 0.00943
NM_033100.4(CDHR1):c.2041-15G>A rs61867367 0.00830
NM_033100.4(CDHR1):c.297+6G>A rs79239487 0.00787
NM_033100.4(CDHR1):c.783G>A (p.Pro261=) rs147346345 0.00446
NM_033100.4(CDHR1):c.1868A>G (p.Asn623Ser) rs137876961 0.00404
NM_033100.4(CDHR1):c.938G>A (p.Arg313Lys) rs144058677 0.00194
NM_033100.4(CDHR1):c.1071C>T (p.Ser357=) rs146588811 0.00167
NM_033100.4(CDHR1):c.526-7C>G rs190906755 0.00166
NM_033100.4(CDHR1):c.1461G>A (p.Gly487=) rs141787212 0.00145
NM_033100.4(CDHR1):c.1553+6T>C rs199567321 0.00139
NM_033100.4(CDHR1):c.1133G>A (p.Arg378Gln) rs140621272 0.00121
NM_033100.4(CDHR1):c.408C>T (p.Ile136=) rs148125234 0.00121
NM_033100.4(CDHR1):c.556C>T (p.His186Tyr) rs147420731 0.00120
NM_033100.4(CDHR1):c.2229G>A (p.Arg743=) rs150969538 0.00106
NM_033100.4(CDHR1):c.2176C>T (p.Arg726Cys) rs141706561 0.00051
NM_033100.4(CDHR1):c.1320+4G>C rs370677921 0.00044
NM_033100.4(CDHR1):c.689C>T (p.Thr230Ile) rs141173656 0.00024
NM_033100.4(CDHR1):c.44G>T (p.Arg15Leu) rs74903725 0.00017
NM_033100.4(CDHR1):c.1187A>G (p.Asn396Ser) rs145353541 0.00014
NM_033100.4(CDHR1):c.1751C>T (p.Thr584Met) rs754321329 0.00014
NM_033100.4(CDHR1):c.784-3G>A rs201384219 0.00009
NM_033100.4(CDHR1):c.1554-3C>A rs377416569 0.00007
NM_033100.4(CDHR1):c.1471G>A (p.Val491Met) rs138638103 0.00006
NM_033100.4(CDHR1):c.1A>G (p.Met1Val) rs794726954 0.00003
NM_033100.4(CDHR1):c.833C>T (p.Pro278Leu) rs543254581 0.00002
NM_033100.4(CDHR1):c.1342dup (p.Thr448fs) rs750895925 0.00001
NM_033100.4(CDHR1):c.1344C>T (p.Thr448=) rs542195636
NM_033100.4(CDHR1):c.152-12_152-11del rs767478332
NM_033100.4(CDHR1):c.159C>A (p.His53Gln) rs12781048
NM_033100.4(CDHR1):c.159C>T (p.His53=) rs12781048
NM_033100.4(CDHR1):c.2473C>A (p.Pro825Thr) rs201515900
NM_033100.4(CDHR1):c.2522_2528del (p.Ile841fs) rs794727197
NM_033100.4(CDHR1):c.2546AGA[2] (p.Lys851del) rs150926842
NM_033100.4(CDHR1):c.827G>A (p.Gly276Asp) rs1589300382
NM_033100.4(CDHR1):c.863-1G>A rs886041900

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