ClinVar Miner

List of variants reported by Department of Laboratory Medicine and Genetics, Trillium Health Partners Credit Valley Hospital

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Total variants: 40
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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.1200A>C (p.Glu400Asp) rs1303 0.21786
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_000295.5(SERPINA1):c.424C>T (p.Leu142=) rs20546 0.03085
NM_001127701.1(SERPINA1):c.863A>T (p.Glu288Val) rs17580 0.02950
NM_001127701.1(SERPINA1):c.1096G>A (p.Glu366Lys) rs28929474 0.01282
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_001127701.1(SERPINA1):c.1159G>A (p.Glu387Lys) rs121912712 0.00033
NM_001127701.1(SERPINA1):c.839A>T (p.Asp280Val) rs121912714 0.00033
NM_001127701.1(SERPINA1):c.1178C>T (p.Pro393Leu) rs199422209 0.00011
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_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.169T>C (p.Phe57Leu) rs1457464431 0.00003
NM_000295.5(SERPINA1):c.646G>T (p.Gly216Cys) rs756773408 0.00003
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.552del (p.Asp183_Tyr184insTer) rs267606950 0.00001
NM_000295.5(SERPINA1):c.646+1G>T rs751235320 0.00001
NM_000295.5(SERPINA1):c.745G>C (p.Gly249Arg) rs764220898 0.00001
NM_001127701.1(SERPINA1):c.415G>A (p.Gly139Ser) rs11558261 0.00001
NM_000295.5(SERPINA1):c.1064_1066-3del (p.Lys355_Ala356=) rs1555367896
NM_000295.5(SERPINA1):c.1072_1073del (p.Val357_His358insTer) rs1555367892
NM_000295.5(SERPINA1):c.1073A>G (p.His358Arg) rs1555367891
NM_000295.5(SERPINA1):c.1158del (p.Glu387fs) rs764325655
NM_000295.5(SERPINA1):c.1del (p.Met1fs) rs1555369299
NM_000295.5(SERPINA1):c.221TCT[2] (p.Phe76del) rs775982338
NM_000295.5(SERPINA1):c.227T>C (p.Phe76Ser) rs1555369172
NM_000295.5(SERPINA1):c.299T>A (p.Ile100Asn) rs1555369135
NM_000295.5(SERPINA1):c.514G>A (p.Gly172Arg) rs112030253
NM_000295.5(SERPINA1):c.626T>C (p.Val209Ala) rs1555368958
NM_001127701.1(SERPINA1):c.1145T>G (p.Met382Arg) rs121912713
NM_001127701.1(SERPINA1):c.230C>T (p.Ser77Phe) rs55819880
NM_001127701.1(SERPINA1):c.272G>A (p.Gly91Glu) rs28931568
NM_001127701.1(SERPINA1):c.347T>A (p.Ile116Asn) rs28931572
NM_001127701.1(SERPINA1):c.77A>C (p.Asp26Ala) rs199422212

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