ClinVar Miner

Variants in gene SLC4A1 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
503 96 1 42 29 1 15 72

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 affects
pathogenic 0 22 9 4 4 0
likely pathogenic 22 0 4 0 1 0
uncertain significance 9 4 1 27 7 1
likely benign 4 0 27 0 20 1
benign 4 1 7 20 0 0
affects 0 0 1 1 0 0

All variants with conflicting interpretations #

Total variants: 72
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000342.4(SLC4A1):c.166A>G (p.Lys56Glu) rs5036 0.05002
NM_000342.4(SLC4A1):c.2712C>T (p.Tyr904=) rs45519733 0.01857
NM_000342.4(SLC4A1):c.1770G>A (p.Lys590=) rs35807245 0.01536
NM_000342.4(SLC4A1):c.16-14G>A rs145502796 0.01351
NM_000342.4(SLC4A1):c.1878T>C (p.Asp626=) rs5020 0.01332
NM_000342.3(SLC4A1):c.118G>A (p.Glu40Lys) rs45562031 0.01150
NM_000342.4(SLC4A1):c.2100C>T (p.Ser700=) rs5024 0.01001
NM_000342.4(SLC4A1):c.12G>A (p.Leu4=) rs115901854 0.00447
NM_000342.4(SLC4A1):c.216G>T (p.Glu72Asp) rs13306788 0.00342
NM_000342.4(SLC4A1):c.539G>A (p.Arg180His) rs147390654 0.00294
NM_000342.4(SLC4A1):c.2561C>T (p.Pro854Leu) rs2285644 0.00284
NM_000342.4(SLC4A1):c.1522G>A (p.Glu508Lys) rs45568837 0.00136
NM_000342.4(SLC4A1):c.2716G>C (p.Glu906Gln) rs199694087 0.00128
NM_000342.4(SLC4A1):c.2482-7C>T rs371728036 0.00063
NM_000342.4(SLC4A1):c.1692G>A (p.Gln564=) rs145978062 0.00061
NM_000342.4(SLC4A1):c.2340G>A (p.Leu780=) rs139912334 0.00056
NM_000342.3(SLC4A1):c.980C>G (p.Pro327Arg) rs28931583 0.00054
NM_000342.4(SLC4A1):c.2603C>T (p.Pro868Leu) rs121912759 0.00051
NM_000342.4(SLC4A1):c.457C>A (p.Leu153Met) rs145041032 0.00044
NM_000342.4(SLC4A1):c.2701C>T (p.Arg901Trp) rs201265160 0.00031
NM_000342.4(SLC4A1):c.486-18C>T rs201023917 0.00031
NM_000342.4(SLC4A1):c.1151G>A (p.Arg384His) rs13306776 0.00026
NM_000342.4(SLC4A1):c.1972G>A (p.Glu658Lys) rs75731670 0.00024
NM_000342.4(SLC4A1):c.337G>A (p.Val113Ile) rs142757938 0.00024
NM_000342.4(SLC4A1):c.798T>C (p.Phe266=) rs193011645 0.00023
NM_000342.4(SLC4A1):c.277G>T (p.Ala93Ser) rs145054469 0.00017
NM_000342.4(SLC4A1):c.1258G>A (p.Ala420Thr) rs142905862 0.00015
NM_000342.4(SLC4A1):c.1800+12C>T rs556266412 0.00008
NM_000342.4(SLC4A1):c.523C>A (p.Pro175Thr) rs201611359 0.00007
NM_000342.4(SLC4A1):c.2694G>A (p.Glu898=) rs373388521 0.00006
NM_000342.4(SLC4A1):c.1160G>A (p.Arg387Gln) rs201280873 0.00004
NM_000342.4(SLC4A1):c.1937G>A (p.Arg646Gln) rs121912757 0.00004
NM_000342.4(SLC4A1):c.713A>T (p.Glu238Val) rs571740084 0.00003
NM_000342.4(SLC4A1):c.877-3dup rs747181893 0.00003
NM_000342.3(SLC4A1):c.-62G>A rs387906565 0.00002
NM_000342.4(SLC4A1):c.1284A>G (p.Gly428=) rs387907516 0.00002
NM_000342.4(SLC4A1):c.202G>A (p.Glu68Lys) rs13306787 0.00002
NM_000342.3(SLC4A1):c.1462G>A (p.Val488Met) rs28931584 0.00001
NM_000342.4(SLC4A1):c.1181T>C (p.Leu394Pro) rs768426818 0.00001
NM_000342.4(SLC4A1):c.1269C>T (p.Phe423=) rs768727937 0.00001
NM_000342.4(SLC4A1):c.1468C>T (p.Arg490Cys) rs1398477044 0.00001
NM_000342.4(SLC4A1):c.1936C>T (p.Arg646Trp) rs121912758 0.00001
NM_000342.4(SLC4A1):c.2055C>T (p.Thr685=) rs375136281 0.00001
NM_000342.3(SLC4A1):c.2279G>A (p.Arg760Gln) rs121912755
NM_000342.3(SLC4A1):c.2608C>T (p.Arg870Trp) rs28931585
NM_000342.4(SLC4A1):c.1030C>T (p.Arg344Ter) rs750930293
NM_000342.4(SLC4A1):c.1337T>C (p.Val446Ala)
NM_000342.4(SLC4A1):c.1353_1380del (p.Phe451fs)
NM_000342.4(SLC4A1):c.1561C>T (p.Gln521Ter) rs2144612096
NM_000342.4(SLC4A1):c.16-1G>A
NM_000342.4(SLC4A1):c.1626G>A (p.Lys542=) rs2144611947
NM_000342.4(SLC4A1):c.1627-3C>T
NM_000342.4(SLC4A1):c.1742C>A (p.Thr581Asn)
NM_000342.4(SLC4A1):c.1765C>T (p.Arg589Cys) rs121912745
NM_000342.4(SLC4A1):c.184C>T (p.Gln62Ter)
NM_000342.4(SLC4A1):c.1890+1G>A rs1567830555
NM_000342.4(SLC4A1):c.1987ATG[1] (p.Met664del)
NM_000342.4(SLC4A1):c.202G>T (p.Glu68Ter) rs13306787
NM_000342.4(SLC4A1):c.2057+1G>A rs2047371081
NM_000342.4(SLC4A1):c.2169G>A (p.Trp723Ter) rs2047358814
NM_000342.4(SLC4A1):c.2188C>T (p.Arg730Cys) rs770569237
NM_000342.4(SLC4A1):c.2214_2217del (p.Thr739fs)
NM_000342.4(SLC4A1):c.2278C>T (p.Arg760Trp) rs373916826
NM_000342.4(SLC4A1):c.2344C>T (p.Arg782Cys) rs148317876
NM_000342.4(SLC4A1):c.2423G>A (p.Arg808His) rs866727908
NM_000342.4(SLC4A1):c.2510C>T (p.Thr837Met) rs2047337144
NM_000342.4(SLC4A1):c.2573C>A (p.Ala858Asp) rs121912751
NM_000342.4(SLC4A1):c.286C>T (p.Arg96Cys) rs538778224
NM_000342.4(SLC4A1):c.349+1G>A rs1567834739
NM_000342.4(SLC4A1):c.609+1G>A rs1362663440
NM_000342.4(SLC4A1):c.733G>A (p.Val245Met) rs148170067
NM_000342.4(SLC4A1):c.82G>A (p.Glu28Lys)

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