ClinVar Miner

Variants in gene HEXA 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 Variants with at least 2 submissions 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 kind of conflict
172 29 0 28 11 2 13 52

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 other
pathogenic 0 22 8 0 2 1
likely pathogenic 22 0 4 0 0 0
uncertain significance 8 4 0 10 1 1
likely benign 0 0 10 0 6 0
benign 2 0 1 6 0 2
other 1 0 1 0 2 0

All variants with conflicting interpretations #

Total variants: 52
Download table as spreadsheet
HGVS dbSNP
NM_000520.4(HEXA):c.745C>T (p.Arg249Trp) rs138058578
NM_000520.4:c.1499delT
NM_000520.5(HEXA):c.-167G>A rs77707876
NM_000520.5(HEXA):c.-207-2357_253+5128delinsG
NM_000520.5(HEXA):c.-4G>A rs766510036
NM_000520.5(HEXA):c.-59G>A rs147174351
NM_000520.5(HEXA):c.1168C>T (p.Gln390Ter) rs988192535
NM_000520.5(HEXA):c.1195A>G (p.Asn399Asp) rs1800430
NM_000520.5(HEXA):c.1305C>T (p.Tyr435=) rs587779406
NM_000520.5(HEXA):c.1306A>G (p.Ile436Val) rs1800431
NM_000520.5(HEXA):c.1351C>G (p.Leu451Val) rs28940871
NM_000520.5(HEXA):c.1397A>G (p.Asn466Ser) rs200936836
NM_000520.5(HEXA):c.1421+14G>C rs201497629
NM_000520.5(HEXA):c.1421G>A (p.Trp474Ter) rs762374961
NM_000520.5(HEXA):c.1435G>A (p.Ala479Thr) rs145012038
NM_000520.5(HEXA):c.1444G>A (p.Glu482Lys) rs121907952
NM_000520.5(HEXA):c.1453T>C (p.Trp485Arg) rs121907968
NM_000520.5(HEXA):c.1495C>T (p.Arg499Cys) rs121907966
NM_000520.5(HEXA):c.1496G>A (p.Arg499His) rs121907956
NM_000520.5(HEXA):c.1510C>T (p.Arg504Cys) rs28942071
NM_000520.5(HEXA):c.1518A>G (p.Glu506=) rs4777502
NM_000520.5(HEXA):c.1527-6T>C rs199914308
NM_000520.5(HEXA):c.1528C>T (p.Arg510Ter) rs786204585
NM_000520.5(HEXA):c.1549dup (p.Leu517Profs) rs1555472161
NM_000520.5(HEXA):c.2T>C (p.Met1Thr) rs786204721
NM_000520.5(HEXA):c.316C>T (p.Gln106Ter) rs773446161
NM_000520.5(HEXA):c.346+13C>T rs200871198
NM_000520.5(HEXA):c.346+1G>C rs797044432
NM_000520.5(HEXA):c.459+5G>A rs762060470
NM_000520.5(HEXA):c.508C>T (p.Arg170Trp) rs121907972
NM_000520.5(HEXA):c.509G>A (p.Arg170Gln) rs121907957
NM_000520.5(HEXA):c.530C>G (p.Ser177Cys) rs1064794856
NM_000520.5(HEXA):c.536A>G (p.His179Arg) rs747372270
NM_000520.5(HEXA):c.548T>A (p.Leu183His) rs185797496
NM_000520.5(HEXA):c.590A>C (p.Lys197Thr) rs121907973
NM_000520.5(HEXA):c.611A>G (p.His204Arg) rs121907976
NM_000520.5(HEXA):c.672+1G>A rs387906311
NM_000520.5(HEXA):c.672+30T>G rs117160567
NM_000520.5(HEXA):c.673-13T>C rs75211071
NM_000520.5(HEXA):c.709C>T (p.Gln237Ter) rs150675340
NM_000520.5(HEXA):c.739C>T (p.Arg247Trp) rs121907970
NM_000520.5(HEXA):c.748G>A (p.Gly250Ser) rs1057521137
NM_000520.5(HEXA):c.754C>T (p.Arg252Cys) rs566580738
NM_000520.5(HEXA):c.759G>A (p.Val253=) rs117513345
NM_000520.5(HEXA):c.805+1G>A rs121907980
NM_000520.5(HEXA):c.806-7G>A rs770932296
NM_000520.5(HEXA):c.8G>C (p.Ser3Thr) rs374524755
NM_000520.5(HEXA):c.915_917del (p.Phe305del) rs121907960
NM_000520.5(HEXA):c.964G>T (p.Asp322Tyr) rs772180415
NM_000520.5(HEXA):c.986+3A>G rs200926928
NM_000520.5(HEXA):c.9C>T (p.Ser3=) rs1800428
NM_001318825.1(HEXA):c.1544G>A (p.Arg515His) rs121907955

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