ClinVar Miner

List of variants in gene SERPINA1 reported by Eurofins NTD LLC (GA)

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Gene type:
ClinVar version:
Total variants: 76
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HGVS dbSNP gnomAD frequency
NM_001127701.1(SERPINA1):c.710T>C (p.Val237Ala) rs6647 0.31278
NM_001127701.1(SERPINA1):c.374G>A (p.Arg125His) rs709932 0.11804
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_001127701.1(SERPINA1):c.1096G>A (p.Glu366Lys) rs28929474 0.01282
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.51C>T (p.Cys17=) rs143920236 0.00056
NM_000295.5(SERPINA1):c.879C>A (p.His293Gln) rs141095970 0.00054
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.250G>A (p.Ala84Thr) rs111850950 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.1061C>T (p.Ser354Phe) rs201788603 0.00021
NM_000295.5(SERPINA1):c.546C>T (p.Asn182=) rs113813309 0.00016
NM_000295.5(SERPINA1):c.918-4A>G rs367822021 0.00013
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.327G>A (p.Thr109=) rs764493280 0.00008
NM_000295.5(SERPINA1):c.1120G>A (p.Ala374Thr) rs752723808 0.00006
NM_000295.5(SERPINA1):c.1134G>A (p.Glu378=) rs148362959 0.00006
NM_000295.5(SERPINA1):c.206C>T (p.Ser69Phe) rs199687431 0.00006
NM_001127701.1(SERPINA1):c.326C>T (p.Thr109Met) rs199422213 0.00006
NM_000295.5(SERPINA1):c.436G>A (p.Glu146Lys) rs537285845 0.00005
NM_000295.5(SERPINA1):c.211A>C (p.Ser71Arg) rs11575873 0.00004
NM_000295.5(SERPINA1):c.336G>A (p.Pro112=) rs753313462 0.00004
NM_000295.5(SERPINA1):c.381C>T (p.Leu127=) rs372438611 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.1094A>T (p.Asp365Val) rs864622046 0.00003
NM_000295.5(SERPINA1):c.334C>A (p.Pro112Thr) rs886044322 0.00003
NM_000295.5(SERPINA1):c.348C>G (p.Ile116Met) rs759135389 0.00003
NM_000295.5(SERPINA1):c.740G>A (p.Arg247His) rs544632177 0.00003
NM_000295.5(SERPINA1):c.1065+6A>T rs79078626 0.00002
NM_000295.5(SERPINA1):c.41G>T (p.Gly14Val) rs768352001 0.00002
NM_000295.5(SERPINA1):c.701T>A (p.Val234Glu) rs746197812 0.00002
NM_000295.5(SERPINA1):c.73G>A (p.Glu25Lys) rs766542592 0.00002
NM_000295.4(SERPINA1):c.1078G>A (p.Ala360Thr) rs1802959 0.00001
NM_000295.5(SERPINA1):c.1065+10C>T rs56388024 0.00001
NM_000295.5(SERPINA1):c.324C>T (p.Leu108=) rs1555369128 0.00001
NM_000295.5(SERPINA1):c.339G>T (p.Glu113Asp) rs1566757595 0.00001
NM_000295.5(SERPINA1):c.450A>G (p.Leu150=) rs146596574 0.00001
NM_000295.5(SERPINA1):c.457A>G (p.Lys153Glu) rs369060615 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.80C>T (p.Pro27Leu) rs190231439 0.00001
NM_000295.5(SERPINA1):c.890C>A (p.Thr297Asn) rs752776707 0.00001
NM_000295.5(SERPINA1):c.926G>A (p.Ser309Asn) rs773222881 0.00001
NM_000295.5(SERPINA1):c.978C>T (p.Val326=) rs752267053 0.00001
NM_000295.4(SERPINA1):c.1093G>A (p.Asp365Asn) rs143370956
NM_000295.5(SERPINA1):c.*5_*14del rs775785700
NM_000295.5(SERPINA1):c.1156C>T (p.Pro386Ser) rs12233
NM_000295.5(SERPINA1):c.1177C>A (p.Pro393Thr) rs61761869
NM_000295.5(SERPINA1):c.221TCT[2] (p.Phe76del) rs775982338
NM_000295.5(SERPINA1):c.334C>T (p.Pro112Ser) rs886044322
NM_000295.5(SERPINA1):c.455A>G (p.Asp152Gly) rs772895093
NM_000295.5(SERPINA1):c.470A>T (p.Asp157Val) rs749118243
NM_000295.5(SERPINA1):c.497C>A (p.Ala166Asp) rs142942004
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.54G>A (p.Leu18=) rs745679666
NM_000295.5(SERPINA1):c.552C>T (p.Tyr184=) rs199422210
NM_000295.5(SERPINA1):c.677A>G (p.Asp226Gly) rs1566754362
NM_000295.5(SERPINA1):c.793C>T (p.Leu265=) rs768386476
NM_000295.5(SERPINA1):c.991G>C (p.Gly331Arg) rs569455355

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