ClinVar Miner

Variants in gene SERPINA1 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
387 19 0 32 29 18 10 67

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, low penetrance other
pathogenic 0 23 7 2 0 1 8
likely pathogenic 23 0 6 1 0 0 5
uncertain significance 7 6 0 27 4 0 8
likely benign 2 1 27 0 9 0 3
benign 0 0 4 9 0 0 2
pathogenic, low penetrance 1 0 0 0 0 0 0
other 8 5 8 3 2 0 0

All variants with conflicting interpretations #

Total variants: 67
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001127701.1(SERPINA1):c.710T>C (p.Val237Ala) rs6647 0.31278
NM_001127701.1(SERPINA1):c.1200A>C (p.Glu400Asp) rs1303 0.21786
NM_001127701.1(SERPINA1):c.374G>A (p.Arg125His) rs709932 0.11804
NM_000295.5(SERPINA1):c.*1331G>A rs11568814 0.07789
NM_000295.5(SERPINA1):c.840T>C (p.Asp280=) rs1049800 0.03703
NM_001127701.1(SERPINA1):c.863A>T (p.Glu288Val) rs17580 0.02950
NM_000295.5(SERPINA1):c.-10T>C rs11558258 0.02837
NM_000295.5(SERPINA1):c.774G>A (p.Lys258=) rs34112109 0.01536
NM_001127701.1(SERPINA1):c.1096G>A (p.Glu366Lys) rs28929474 0.01282
NM_000295.5(SERPINA1):c.1068C>T (p.Ala356=) rs9630 0.00897
NM_000295.5(SERPINA1):c.922G>T (p.Ala308Ser) rs141620200 0.00222
NM_001127701.1(SERPINA1):c.739C>T (p.Arg247Cys) rs28929470 0.00211
NM_001127701.1(SERPINA1):c.187C>T (p.Arg63Cys) rs28931570 0.00137
NM_000295.5(SERPINA1):c.976G>A (p.Val326Ile) rs139964603 0.00084
NM_000295.5(SERPINA1):c.43C>T (p.Leu15=) rs147283849 0.00064
NM_000295.5(SERPINA1):c.-7A>G rs559054925 0.00041
NM_000295.5(SERPINA1):c.924C>T (p.Ala308=) rs138611390 0.00035
NM_001127701.1(SERPINA1):c.1159G>A (p.Glu387Lys) rs121912712 0.00033
NM_001127701.1(SERPINA1):c.839A>T (p.Asp280Val) rs121912714 0.00033
NM_000295.5(SERPINA1):c.1177C>T (p.Pro393Ser) rs61761869 0.00031
NM_000295.5(SERPINA1):c.171C>T (p.Phe57=) rs150784949 0.00026
NM_000295.5(SERPINA1):c.-4G>A rs374417614 0.00022
NM_000295.5(SERPINA1):c.918-4A>G rs367822021 0.00013
NM_000295.5(SERPINA1):c.1069G>A (p.Val357Met) rs373630097 0.00011
NM_000295.5(SERPINA1):c.1206T>C (p.Asn402=) rs766128806 0.00011
NM_000295.5(SERPINA1):c.244G>A (p.Ala82Thr) rs113817720 0.00011
NM_000295.5(SERPINA1):c.718G>A (p.Val240Met) rs72552401 0.00011
NM_001127701.1(SERPINA1):c.1178C>T (p.Pro393Leu) rs199422209 0.00011
NM_000295.5(SERPINA1):c.899T>G (p.Leu300Arg) rs550592374 0.00009
NM_000295.5(SERPINA1):c.967C>T (p.Leu323=) rs150455534 0.00007
NM_000295.5(SERPINA1):c.1134G>A (p.Glu378=) rs148362959 0.00006
NM_000295.5(SERPINA1):c.6G>A (p.Pro2=) rs200936638 0.00006
NM_001127701.1(SERPINA1):c.326C>T (p.Thr109Met) rs199422213 0.00006
NM_000295.5(SERPINA1):c.646+2T>C rs112661131 0.00005
NM_000295.5(SERPINA1):c.211A>C (p.Ser71Arg) rs11575873 0.00004
NM_001127701.1(SERPINA1):c.17C>T (p.Ser6Leu) rs140814100 0.00004
NM_001127701.1(SERPINA1):c.194T>C (p.Leu65Pro) rs28931569 0.00004
NM_000295.5(SERPINA1):c.1065+6A>T rs79078626 0.00002
NM_000295.5(SERPINA1):c.701T>A (p.Val234Glu) rs746197812 0.00002
NM_001127701.1(SERPINA1):c.682G>A (p.Glu228Lys) rs199422208 0.00002
NM_000295.4(SERPINA1):c.1078G>A (p.Ala360Thr) rs1802959 0.00001
NM_000295.4(SERPINA1):c.721A>T (p.Lys241Ter) rs199422211 0.00001
NM_000295.5(SERPINA1):c.1065+10C>T rs56388024 0.00001
NM_000295.5(SERPINA1):c.1104G>A (p.Gly368=) rs1378794678 0.00001
NM_000295.5(SERPINA1):c.587T>C (p.Leu196Ser) rs368433503 0.00001
NM_000295.5(SERPINA1):c.646+1G>T rs751235320 0.00001
NM_000295.5(SERPINA1):c.646+5_646+6del rs779432340 0.00001
NM_000295.5(SERPINA1):c.745G>C (p.Gly249Arg) rs764220898 0.00001
NM_000295.4(SERPINA1):c.1093G>A (p.Asp365Asn) rs143370956
NM_000295.5(SERPINA1):c.1095C>T (p.Asp365=) rs201774333
NM_000295.5(SERPINA1):c.1108_1115delinsAAAAACA (p.Glu370fs) rs864622043
NM_000295.5(SERPINA1):c.1158del (p.Glu387fs) rs764325655
NM_000295.5(SERPINA1):c.1158dup (p.Glu387fs) rs764325655
NM_000295.5(SERPINA1):c.1178C>G (p.Pro393Arg) rs199422209
NM_000295.5(SERPINA1):c.221TCT[2] (p.Phe76del) rs775982338
NM_000295.5(SERPINA1):c.475A>T (p.Lys159Ter)
NM_000295.5(SERPINA1):c.480del (p.Lys160fs)
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.647del rs1555368758
NM_000295.5(SERPINA1):c.82del (p.Gln28fs)
NM_000295.5(SERPINA1):c.866dup (p.Asn289fs) rs1555368557

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