ClinVar Miner

Variants in gene combination CFTR, LOC111674472 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
114 70 1 23 4 6 9 30

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 drug response risk factor
pathogenic 0 21 7 1 1 3 1
likely pathogenic 21 0 7 1 1 3 1
uncertain significance 7 7 1 4 2 4 1
likely benign 1 1 4 0 3 0 1
benign 1 1 2 3 0 0 1
drug response 3 3 4 0 0 0 0
risk factor 1 1 1 1 1 0 0

All variants with conflicting interpretations #

Total variants: 30
Download table as spreadsheet
HGVS dbSNP
NM_000492.3(CFTR):c.2997_3000del (p.Leu999_Ile1000insTer) rs397508472
NM_000492.3(CFTR):c.3017C>A (p.Ala1006Glu) rs397508480
NM_000492.3(CFTR):c.3022del (p.Val1008fs) rs397508482
NM_000492.3(CFTR):c.3067_3072del (p.Ile1023_Val1024del) rs121908767
NM_000492.3(CFTR):c.3068T>G (p.Ile1023Arg) rs756219310
NM_000492.3(CFTR):c.3080T>C (p.Ile1027Thr) rs1800112
NM_000492.3(CFTR):c.3095A>G (p.Tyr1032Cys) rs144055758
NM_000492.3(CFTR):c.3103C>T (p.Gln1035Ter) rs397508496
NM_000492.3(CFTR):c.3107C>A (p.Thr1036Asn) rs397508498
NM_000492.3(CFTR):c.3139+8A>G rs193922517
NM_000492.3(CFTR):c.3139_3139+1del rs397508505
NM_000492.3(CFTR):c.3181G>C (p.Gly1061Arg) rs142394380
NM_000492.3(CFTR):c.3200C>T (p.Ala1067Val) rs1800114
NM_000492.3(CFTR):c.3205G>A (p.Gly1069Arg) rs200321110
NM_000492.3(CFTR):c.3254A>G (p.His1085Arg) rs79635528
NM_000492.3(CFTR):c.3289C>T (p.Arg1097Cys) rs201591901
NM_000492.3(CFTR):c.3302T>G (p.Met1101Arg) rs36210737
NM_000492.3(CFTR):c.3324del (p.Ile1109fs) rs1554392282
NM_000492.4(CFTR):c.2989-1G>A rs397508470
NM_000492.4(CFTR):c.2991G>C (p.Leu997Phe) rs1800111
NM_000492.4(CFTR):c.3014dup (p.Ala1006fs)
NM_000492.4(CFTR):c.3154T>G (p.Phe1052Val) rs150212784
NM_000492.4(CFTR):c.3199G>A (p.Ala1067Thr) rs121909020
NM_000492.4(CFTR):c.3208C>T (p.Arg1070Trp) rs202179988
NM_000492.4(CFTR):c.3209G>A (p.Arg1070Gln) rs78769542
NM_000492.4(CFTR):c.3222T>A (p.Phe1074Leu) rs186045772
NM_000492.4(CFTR):c.3285A>T (p.Thr1095=) rs1800118
NM_000492.4(CFTR):c.3294G>T (p.Trp1098Cys) rs397508533
NM_000492.4(CFTR):c.3297C>A rs747754623
NM_000492.4(CFTR):c.3299A>C (p.Gln1100Pro) rs397508535

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