ClinVar Miner

Variants in gene SERPINA1 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
230 15 0 17 16 16 7 40

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 11 6 1 0 5
likely pathogenic 11 0 4 1 0 3
uncertain significance 6 4 0 15 3 6
likely benign 1 1 15 0 6 1
benign 0 0 3 6 0 2
other 5 3 6 1 2 0

All variants with conflicting interpretations #

Total variants: 40
Download table as spreadsheet
NM_000295.4(SERPINA1):c.1078G>A (p.Ala360Thr) rs1802959
NM_000295.4(SERPINA1):c.1093G>A (p.Asp365Asn) rs143370956
NM_000295.4(SERPINA1):c.721A>T (p.Lys241Ter) rs199422211
NM_000295.5(SERPINA1):c.1068C>T (p.Ala356=) rs9630
NM_000295.5(SERPINA1):c.1069G>A (p.Val357Met) rs373630097
NM_000295.5(SERPINA1):c.1095C>T (p.Asp365=) rs201774333
NM_000295.5(SERPINA1):c.1158dup (p.Glu387fs) rs764325655
NM_000295.5(SERPINA1):c.1177C>T (p.Pro393Ser) rs61761869
NM_000295.5(SERPINA1):c.1206T>C (p.Asn402=) rs766128806
NM_000295.5(SERPINA1):c.171C>T (p.Phe57=) rs150784949
NM_000295.5(SERPINA1):c.211A>C (p.Ser71Arg) rs11575873
NM_000295.5(SERPINA1):c.221TCT[2] (p.Phe76del) rs775982338
NM_000295.5(SERPINA1):c.324C>T (p.Leu108=) rs1555369128
NM_000295.5(SERPINA1):c.43C>T (p.Leu15=) rs147283849
NM_000295.5(SERPINA1):c.450A>G (p.Leu150=) rs146596574
NM_000295.5(SERPINA1):c.514G>A (p.Gly172Arg) rs112030253
NM_000295.5(SERPINA1):c.514G>T (p.Gly172Trp) rs112030253
NM_000295.5(SERPINA1):c.538C>T (p.Gln180Ter) rs864622051
NM_000295.5(SERPINA1):c.552C>G (p.Tyr184Ter) rs199422210
NM_000295.5(SERPINA1):c.552C>T (p.Tyr184=) rs199422210
NM_000295.5(SERPINA1):c.611_612del (p.Thr204fs) rs921982028
NM_000295.5(SERPINA1):c.646+1G>T rs751235320
NM_000295.5(SERPINA1):c.745G>C (p.Gly249Arg) rs764220898
NM_000295.5(SERPINA1):c.774G>A (p.Lys258=) rs34112109
NM_000295.5(SERPINA1):c.840T>C (p.Asp280=) rs1049800
NM_000295.5(SERPINA1):c.922G>T (p.Ala308Ser) rs141620200
NM_000295.5(SERPINA1):c.967C>T (p.Leu323=) rs150455534
NM_001127701.1(SERPINA1):c.1096G>A (p.Glu366Lys) rs28929474
NM_001127701.1(SERPINA1):c.1159G>A (p.Glu387Lys) rs121912712
NM_001127701.1(SERPINA1):c.1178C>T (p.Pro393Leu) rs199422209
NM_001127701.1(SERPINA1):c.1200A>C (p.Glu400Asp) rs1303
NM_001127701.1(SERPINA1):c.17C>T (p.Ser6Leu) rs140814100
NM_001127701.1(SERPINA1):c.187C>T (p.Arg63Cys) rs28931570
NM_001127701.1(SERPINA1):c.194T>C (p.Leu65Pro) rs28931569
NM_001127701.1(SERPINA1):c.326C>T (p.Thr109Met) rs199422213
NM_001127701.1(SERPINA1):c.374G>A (p.Arg125His) rs709932
NM_001127701.1(SERPINA1):c.682G>A (p.Glu228Lys) rs199422208
NM_001127701.1(SERPINA1):c.739C>T (p.Arg247Cys) rs28929470
NM_001127701.1(SERPINA1):c.839A>T (p.Asp280Val) rs121912714
NM_001127701.1(SERPINA1):c.863A>T (p.Glu288Val) rs17580

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.