ClinVar Miner

Variants in gene combination FAT2, SLC36A1 with conflicting interpretations

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X axis minimum submission review status: X axis collection method:
Minimum conflict level:
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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
574 120 0 21 27 0 2 48

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 uncertain significance likely benign benign
pathogenic 0 2 0 0
uncertain significance 2 0 25 4
likely benign 0 25 0 21
benign 0 4 21 0

All variants with conflicting interpretations #

Total variants: 48
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HGVS dbSNP gnomAD frequency
NM_001447.3(FAT2):c.4524G>A (p.Thr1508=) rs35489594 0.00541
NM_001447.3(FAT2):c.11989G>A (p.Glu3997Lys) rs146458760 0.00444
NM_001447.3(FAT2):c.9642C>T (p.Tyr3214=) rs143792947 0.00372
NM_001447.3(FAT2):c.9930C>T (p.Asn3310=) rs73272071 0.00260
NM_001447.3(FAT2):c.3976C>T (p.Leu1326Phe) rs146280178 0.00247
NM_001447.3(FAT2):c.5726C>T (p.Thr1909Ile) rs142001888 0.00215
NM_001447.3(FAT2):c.9010G>A (p.Val3004Ile) rs142809371 0.00128
NM_001447.3(FAT2):c.8206A>G (p.Lys2736Glu) rs570674049 0.00047
NM_001447.3(FAT2):c.12464C>G (p.Ser4155Cys) rs145466001 0.00031
NM_001447.3(FAT2):c.10666A>G (p.Thr3556Ala) rs200708864 0.00013
NM_001447.3(FAT2):c.7558A>G (p.Ile2520Val) rs371832909 0.00011
NM_001447.3(FAT2):c.10758G>C (p.Lys3586Asn) rs770597316 0.00001
NM_001447.3(FAT2):c.10946G>A (p.Arg3649Gln) rs201335279 0.00001
NM_001447.3(FAT2):c.10148C>T (p.Ala3383Val)
NM_001447.3(FAT2):c.10413C>A (p.Asn3471Lys)
NM_001447.3(FAT2):c.11375G>A (p.Arg3792Gln)
NM_001447.3(FAT2):c.11452G>A (p.Val3818Ile)
NM_001447.3(FAT2):c.11579T>C (p.Met3860Thr)
NM_001447.3(FAT2):c.12112G>A (p.Glu4038Lys)
NM_001447.3(FAT2):c.12913G>A (p.Ala4305Thr)
NM_001447.3(FAT2):c.3944C>T (p.Thr1315Met)
NM_001447.3(FAT2):c.4280G>A (p.Arg1427His)
NM_001447.3(FAT2):c.4405C>A (p.Arg1469=)
NM_001447.3(FAT2):c.4406G>A (p.Arg1469Gln)
NM_001447.3(FAT2):c.4523C>T (p.Thr1508Met)
NM_001447.3(FAT2):c.4537G>A (p.Asp1513Asn) rs61743237
NM_001447.3(FAT2):c.4614C>T (p.Phe1538=)
NM_001447.3(FAT2):c.4750C>T (p.Arg1584Trp)
NM_001447.3(FAT2):c.4907G>T (p.Gly1636Val)
NM_001447.3(FAT2):c.5477C>T (p.Ser1826Leu)
NM_001447.3(FAT2):c.5512T>C (p.Phe1838Leu)
NM_001447.3(FAT2):c.5629T>C (p.Tyr1877His)
NM_001447.3(FAT2):c.5720T>C (p.Ile1907Thr)
NM_001447.3(FAT2):c.6149G>A (p.Arg2050Gln)
NM_001447.3(FAT2):c.6449C>T (p.Thr2150Met)
NM_001447.3(FAT2):c.6974A>G (p.Asn2325Ser)
NM_001447.3(FAT2):c.7463C>T (p.Ala2488Val)
NM_001447.3(FAT2):c.7527T>C (p.Asp2509=)
NM_001447.3(FAT2):c.8000G>C (p.Gly2667Ala)
NM_001447.3(FAT2):c.8183G>A (p.Arg2728Gln)
NM_001447.3(FAT2):c.8517C>A (p.Asp2839Glu)
NM_001447.3(FAT2):c.8558A>G (p.Glu2853Gly)
NM_001447.3(FAT2):c.8608A>G (p.Thr2870Ala)
NM_001447.3(FAT2):c.8707G>C (p.Ala2903Pro)
NM_001447.3(FAT2):c.8714G>A (p.Arg2905Gln)
NM_001447.3(FAT2):c.9434A>G (p.Asn3145Ser)
NM_001447.3(FAT2):c.9701G>A (p.Gly3234Asp)
NM_001447.3(FAT2):c.9910G>A (p.Val3304Met)

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