ClinVar Miner

Variants in gene RNF213 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
557 53 0 37 9 2 1 45

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 risk factor
pathogenic 0 2 1 0 0 2
likely pathogenic 2 0 1 0 0 2
uncertain significance 1 1 0 6 4 1
likely benign 0 0 6 0 35 0
benign 0 0 4 35 0 0
risk factor 2 2 1 0 0 0

All variants with conflicting interpretations #

Total variants: 45
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001256071.3(RNF213):c.2838A>G (p.Gln946=) rs72849865 0.00586
NM_001256071.3(RNF213):c.13510+4A>G rs139279361 0.00432
NM_001256071.3(RNF213):c.5114C>A (p.Thr1705Lys) rs147868237 0.00389
NM_001256071.3(RNF213):c.1180A>G (p.Asn394Asp) rs74490096 0.00388
NM_001256071.3(RNF213):c.3404C>T (p.Ala1135Val) rs201493500 0.00317
NM_001256071.3(RNF213):c.11972+8C>T rs146754081 0.00310
NM_001256071.3(RNF213):c.11847C>T (p.Thr3949=) rs117705614 0.00286
NM_001256071.3(RNF213):c.3780C>T (p.Pro1260=) rs139471994 0.00285
NM_001256071.3(RNF213):c.6154G>A (p.Val2052Met) rs80097023 0.00268
NM_001256071.3(RNF213):c.7830C>T (p.Asn2610=) rs144098631 0.00252
NM_001256071.3(RNF213):c.11811C>T (p.Thr3937=) rs140689095 0.00249
NM_001256071.3(RNF213):c.13604T>C (p.Ile4535Thr) rs75161557 0.00249
NM_001256071.3(RNF213):c.576C>T (p.Ser192=) rs112089914 0.00242
NM_001256071.3(RNF213):c.11201-6C>A rs112015622 0.00241
NM_001256071.3(RNF213):c.11589A>G (p.Ala3863=) rs141567136 0.00240
NM_001256071.3(RNF213):c.12042C>T (p.His4014=) rs145210854 0.00239
NM_001256071.3(RNF213):c.2847G>A (p.Ala949=) rs140980905 0.00235
NM_001256071.3(RNF213):c.9852G>A (p.Ser3284=) rs111406243 0.00232
NM_001256071.3(RNF213):c.8110C>T (p.Arg2704Trp) rs144074554 0.00216
NM_001256071.3(RNF213):c.5947C>T (p.Arg1983Trp) rs116608867 0.00212
NM_001256071.3(RNF213):c.9952A>G (p.Ile3318Val) rs147785564 0.00193
NM_001256071.3(RNF213):c.8040C>T (p.Pro2680=) rs150849968 0.00188
NM_001256071.3(RNF213):c.8790G>A (p.Gly2930=) rs143472355 0.00132
NM_001256071.3(RNF213):c.6979A>G (p.Asn2327Asp) rs138044665 0.00106
NM_001256071.3(RNF213):c.7356C>T (p.His2452=) rs138032722 0.00104
NM_001256071.3(RNF213):c.1359C>T (p.Val453=) rs7501767 0.00076
NM_001256071.3(RNF213):c.483C>T (p.Asp161=) rs142022751 0.00065
NM_001256071.3(RNF213):c.13592C>T (p.Pro4531Leu) rs143904490 0.00055
NM_001256071.3(RNF213):c.1471+8G>A rs368777091 0.00053
NM_001256071.3(RNF213):c.10997T>C (p.Met3666Thr) rs375097553 0.00034
NM_001256071.3(RNF213):c.2796C>T (p.Tyr932=) rs144083500 0.00026
NM_001256071.3(RNF213):c.10424-8G>A rs139828251 0.00019
NM_001256071.3(RNF213):c.13254T>C (p.Phe4418=) rs372791334 0.00008
NM_001256071.3(RNF213):c.7920C>T (p.Asp2640=) rs144219136 0.00008
NM_001256071.3(RNF213):c.14880C>T (p.Ile4960=) rs144367158 0.00006
NM_001256071.3(RNF213):c.14429G>A (p.Arg4810Lys) rs112735431 0.00004
NM_001256071.3(RNF213):c.10567G>A (p.Gly3523Arg) rs547158013 0.00001
NM_001256071.3(RNF213):c.12037G>A (p.Asp4013Asn) rs397514563 0.00001
NM_001256071.3(RNF213):c.11096T>C (p.Met3699Thr)
NM_001256071.3(RNF213):c.11193C>T (p.Asp3731=)
NM_001256071.3(RNF213):c.1208GAG[2] (p.Gly405del) rs368221664
NM_001256071.3(RNF213):c.5465C>T (p.Pro1822Leu)
NM_001256071.3(RNF213):c.5635C>T (p.Arg1879Cys)
NM_001256071.3(RNF213):c.715C>G (p.Gln239Glu)
NM_001256071.3(RNF213):c.917T>C (p.Phe306Ser)

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