ClinVar Miner

Variants in gene combination ASPA, SPATA22 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
337 25 0 46 13 0 13 69

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
pathogenic 0 44 5 0 0
likely pathogenic 44 0 10 0 0
uncertain significance 5 10 0 12 1
likely benign 0 0 12 0 2
benign 0 0 1 2 0

All variants with conflicting interpretations #

Total variants: 69
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000049.4(ASPA):c.703G>A (p.Glu235Lys) rs149842031 0.00537
NM_000049.4(ASPA):c.245T>C (p.Met82Thr) rs80099330 0.00394
NM_000049.4(ASPA):c.509T>C (p.Ile170Thr) rs144321760 0.00067
NM_000049.4(ASPA):c.832G>A (p.Val278Met) rs140581464 0.00028
NM_000049.4(ASPA):c.854A>C (p.Glu285Ala) rs28940279 0.00027
NM_000049.4(ASPA):c.427A>G (p.Ile143Val) rs199565861 0.00014
NM_000049.4(ASPA):c.212G>A (p.Arg71His) rs104894553 0.00013
NM_000049.4(ASPA):c.78C>T (p.Thr26=) rs145616193 0.00012
NM_000049.4(ASPA):c.906G>A (p.Thr302=) rs371394875 0.00009
NM_000049.4(ASPA):c.237-6T>C rs370219865 0.00008
NM_000049.4(ASPA):c.746A>T (p.Asp249Val) rs104894552 0.00006
NM_000049.4(ASPA):c.230A>G (p.Asn77Ser) rs574328488 0.00005
NM_000049.4(ASPA):c.840C>T (p.Pro280=) rs148081446 0.00005
NM_000049.4(ASPA):c.79G>A (p.Gly27Arg) rs766328537 0.00003
NM_000049.4(ASPA):c.237-2A>T rs780936696 0.00002
NM_000049.4(ASPA):c.820G>A (p.Gly274Arg) rs761064915 0.00002
NM_000049.4(ASPA):c.838C>T (p.Pro280Ser) rs750505963 0.00002
NM_000049.4(ASPA):c.162C>A (p.Asn54Lys) rs779440632 0.00001
NM_000049.4(ASPA):c.2T>C (p.Met1Thr) rs1057516879 0.00001
NM_000049.4(ASPA):c.368G>A (p.Gly123Glu) rs1057521115 0.00001
NM_000049.4(ASPA):c.432G>A (p.Lys144=) rs754087904 0.00001
NM_000049.4(ASPA):c.448C>T (p.Leu150=) rs1597432362 0.00001
NM_000049.4(ASPA):c.47T>C (p.Ile16Thr) rs769653717 0.00001
NM_000049.4(ASPA):c.502C>T (p.Arg168Cys) rs937670540 0.00001
NM_000049.4(ASPA):c.503G>A (p.Arg168His) rs770706390 0.00001
NM_000049.4(ASPA):c.539G>T (p.Gly180Val) rs1014551540 0.00001
NM_000049.4(ASPA):c.541C>A (p.Pro181Thr) rs786204572 0.00001
NM_000049.4(ASPA):c.634+1G>T rs753871454 0.00001
NM_000049.4(ASPA):c.637A>G (p.Lys213Glu) rs528179434 0.00001
NM_000049.4(ASPA):c.770C>G (p.Pro257Arg) rs377217076 0.00001
NM_000049.4(ASPA):c.807G>A (p.Thr269=) rs759106494 0.00001
NM_000049.4(ASPA):c.859G>A (p.Ala287Thr) rs774323189 0.00001
NM_000049.4(ASPA):c.867C>T (p.Tyr289=) rs375736464 0.00001
NM_000049.4(ASPA):c.101G>A (p.Trp34Ter) rs2150741763
NM_000049.4(ASPA):c.147dup (p.Pro50fs) rs1597422432
NM_000049.4(ASPA):c.169G>A (p.Ala57Thr) rs2150741844
NM_000049.4(ASPA):c.244_245del (p.Met82fs) rs786204620
NM_000049.4(ASPA):c.244dup (p.Met82fs) rs756198538
NM_000049.4(ASPA):c.245del (p.Met82fs) rs1057516962
NM_000049.4(ASPA):c.283G>T (p.Glu95Ter) rs2543619356
NM_000049.4(ASPA):c.321_322del (p.Ser108fs) rs1289890879
NM_000049.4(ASPA):c.32del (p.Ile11fs) rs767666474
NM_000049.4(ASPA):c.340G>T (p.Asp114Tyr) rs1446467099
NM_000049.4(ASPA):c.382del (p.Glu129fs) rs1555538825
NM_000049.4(ASPA):c.3G>A (p.Met1Ile) rs1597422213
NM_000049.4(ASPA):c.40del (p.Val14fs) rs2543606405
NM_000049.4(ASPA):c.427A>T (p.Ile143Phe) rs199565861
NM_000049.4(ASPA):c.428T>C (p.Ile143Thr) rs777936704
NM_000049.4(ASPA):c.437_449del (p.Ser146fs) rs2073669074
NM_000049.4(ASPA):c.454T>C (p.Cys152Arg) rs104894548
NM_000049.4(ASPA):c.456_459del (p.Cys152fs) rs2543624410
NM_000049.4(ASPA):c.465T>G (p.Tyr155Ter) rs2543624449
NM_000049.4(ASPA):c.530T>C (p.Ile177Thr) rs1597438977
NM_000049.4(ASPA):c.542C>T (p.Pro181Leu) rs1335267315
NM_000049.4(ASPA):c.548C>A (p.Pro183His) rs1555539857
NM_000049.4(ASPA):c.580C>T (p.Gln194Ter) rs1482032907
NM_000049.4(ASPA):c.609del (p.Asp204fs) rs1597439149
NM_000049.4(ASPA):c.610G>C (p.Asp204His) rs2543636344
NM_000049.4(ASPA):c.693C>T (p.Tyr231=) rs12948217
NM_000049.4(ASPA):c.71A>G (p.Glu24Gly) rs104894551
NM_000049.4(ASPA):c.723T>C (p.Ala241=) rs2073877008
NM_000049.4(ASPA):c.731A>T (p.His244Leu) rs1057516995
NM_000049.4(ASPA):c.744+1G>A rs2073877472
NM_000049.4(ASPA):c.827_828del (p.Cys276fs) rs1057517085
NM_000049.4(ASPA):c.831del (p.Val278fs) rs1555541304
NM_000049.4(ASPA):c.867C>A (p.Tyr289Ter) rs375736464
NM_000049.4(ASPA):c.876_879del (p.Glu293fs) rs766720790
NM_000049.4(ASPA):c.885dup (p.Ala296fs) rs2543658211
NM_000049.4(ASPA):c.89T>C (p.Leu30Pro) rs1555538144

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