ClinVar Miner

List of variants reported as uncertain significance for Alpha-1-antitrypsin deficiency by Illumina Laboratory Services, Illumina

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ClinVar version:
Total variants: 73
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HGVS dbSNP gnomAD frequency
NM_000295.5(SERPINA1):c.*80C>T rs1243163 0.03004
NM_000295.5(SERPINA1):c.-10T>C rs11558258 0.02837
NM_000295.5(SERPINA1):c.*1292C>T rs78367974 0.00599
NM_000295.5(SERPINA1):c.*1414G>A rs139506803 0.00520
NM_000295.5(SERPINA1):c.*1287G>A rs9944155 0.00444
NM_000295.5(SERPINA1):c.*500G>A rs111349695 0.00425
NM_000295.4(SERPINA1):c.-188G>A rs55961721 0.00316
NM_000295.5(SERPINA1):c.*1141A>G rs139136785 0.00239
NM_000295.5(SERPINA1):c.922G>T (p.Ala308Ser) rs141620200 0.00222
NM_000295.5(SERPINA1):c.*792C>T rs139984116 0.00150
NM_000295.5(SERPINA1):c.*1066G>C rs576539120 0.00108
NM_000295.5(SERPINA1):c.43C>T (p.Leu15=) rs147283849 0.00064
NM_000295.5(SERPINA1):c.*1567C>G rs79555504 0.00055
NM_000295.5(SERPINA1):c.-7A>G rs559054925 0.00041
NM_000295.5(SERPINA1):c.*696C>T rs777765085 0.00039
NM_000295.5(SERPINA1):c.*853C>T rs188391982 0.00035
NM_001127701.1(SERPINA1):c.1159G>A (p.Glu387Lys) rs121912712 0.00033
NM_000295.5(SERPINA1):c.*627G>A rs904880962 0.00032
NM_000295.5(SERPINA1):c.250G>A (p.Ala84Thr) rs111850950 0.00031
NM_000295.5(SERPINA1):c.*678C>T rs151205402 0.00029
NM_000295.5(SERPINA1):c.171C>T (p.Phe57=) rs150784949 0.00026
NM_000295.5(SERPINA1):c.*741C>T rs142149216 0.00022
NM_000295.5(SERPINA1):c.1061C>T (p.Ser354Phe) rs201788603 0.00021
NM_000295.5(SERPINA1):c.*371G>T rs539955367 0.00018
NM_000295.5(SERPINA1):c.*946C>T rs184719827 0.00014
NM_000295.4(SERPINA1):c.-176C>T rs756761971 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.*1195G>A rs886050918 0.00010
NM_000295.5(SERPINA1):c.*1494A>T rs781709902 0.00010
NM_000295.5(SERPINA1):c.*1C>T rs72547410 0.00010
NM_000295.5(SERPINA1):c.*263C>T rs753776140 0.00010
NM_000295.5(SERPINA1):c.*694A>T rs886050920 0.00010
NM_000295.4(SERPINA1):c.-190G>A rs180723265 0.00009
NM_000295.5(SERPINA1):c.327G>A (p.Thr109=) rs764493280 0.00008
NM_000295.5(SERPINA1):c.1075A>G (p.Lys359Glu) rs200945035 0.00007
NM_000295.5(SERPINA1):c.967C>T (p.Leu323=) rs150455534 0.00007
NM_000295.5(SERPINA1):c.*1235C>T rs886050917 0.00006
NM_000295.5(SERPINA1):c.*1576G>A rs758466620 0.00006
NM_000295.5(SERPINA1):c.*1628G>A rs746099389 0.00006
NM_000295.5(SERPINA1):c.*400C>T rs886050921 0.00006
NM_000295.5(SERPINA1):c.206C>T (p.Ser69Phe) rs199687431 0.00006
NM_000295.5(SERPINA1):c.6G>A (p.Pro2=) rs200936638 0.00006
NM_000295.5(SERPINA1):c.211A>C (p.Ser71Arg) rs11575873 0.00004
NM_000295.4(SERPINA1):c.-215G>C rs979052933 0.00003
NM_000295.5(SERPINA1):c.*725G>A rs886050919 0.00003
NM_000295.5(SERPINA1):c.*1061C>T rs1021949490 0.00002
NM_000295.5(SERPINA1):c.*18A>G rs371674306 0.00002
NM_000295.5(SERPINA1):c.701T>A (p.Val234Glu) rs746197812 0.00002
NM_000295.4(SERPINA1):c.-143C>T rs886050924 0.00001
NM_000295.4(SERPINA1):c.-191C>T rs886050925 0.00001
NM_000295.5(SERPINA1):c.*469G>T rs1896481388 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.875C>T (p.Thr292Ile) rs745624643 0.00001
NM_000295.4(SERPINA1):c.-102delC rs202122479
NM_000295.4(SERPINA1):c.-165A>G rs1897465965
NM_000295.5(SERPINA1):c.*1173T>C rs554160611
NM_000295.5(SERPINA1):c.*1294T>C rs886050916
NM_000295.5(SERPINA1):c.*172T>C rs886050922
NM_000295.5(SERPINA1):c.*182C>A rs138518740
NM_000295.5(SERPINA1):c.*241G>C rs111978668
NM_000295.5(SERPINA1):c.*315T>G rs1896497491
NM_000295.5(SERPINA1):c.*410A>C rs1214498546
NM_000295.5(SERPINA1):c.*413C>A rs566212080
NM_000295.5(SERPINA1):c.*419C>A rs529148469
NM_000295.5(SERPINA1):c.*442A>T rs1595596588
NM_000295.5(SERPINA1):c.1095C>T (p.Asp365=) rs201774333
NM_000295.5(SERPINA1):c.333T>G (p.Ile111Met) rs886050923
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.552C>T (p.Tyr184=) rs199422210
NM_000295.5(SERPINA1):c.611_612del (p.Thr204fs) rs921982028

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