ClinVar Miner

List of variants studied for serpinopathy by DNA-diagnostics Laboratory, Research Centre For Medical Genetics

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 174
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HGVS dbSNP gnomAD frequency
NM_000062.3(SERPING1):c.-161A>G rs1291031675
NM_000062.3(SERPING1):c.-22-1G>A
NM_000062.3(SERPING1):c.-22-3C>G
NM_000062.3(SERPING1):c.-23+30G>A
NM_000062.3(SERPING1):c.1001A>C (p.His334Pro)
NM_000062.3(SERPING1):c.1029+1del
NM_000062.3(SERPING1):c.1030-1G>C
NM_000062.3(SERPING1):c.1030-1G>T
NM_000062.3(SERPING1):c.1030delG
NM_000062.3(SERPING1):c.1040T>C (p.Leu347Pro)
NM_000062.3(SERPING1):c.1070T>A (p.Ile357Asn)
NM_000062.3(SERPING1):c.1108_1115delinsGATGCTCTCAGCCCTTCTGTTTTCAAGGCCATCATGGAGAAACT (p.Met370_Gln372delinsAspAlaLeuSerProSerValPheLysAlaIleMetGluLysLeu)
NM_000062.3(SERPING1):c.1109T>A (p.Met370Lys)
NM_000062.3(SERPING1):c.110dup (p.Leu37fs)
NM_000062.3(SERPING1):c.1113del (p.Glu371fs)
NM_000062.3(SERPING1):c.1127_1130dup (p.Val378fs)
NM_000062.3(SERPING1):c.1153A>T (p.Lys385Ter)
NM_000062.3(SERPING1):c.1157_1158del (p.Leu386fs)
NM_000062.3(SERPING1):c.115del (p.Asp39fs)
NM_000062.3(SERPING1):c.1188_1189delinsC (p.Thr397fs)
NM_000062.3(SERPING1):c.1193T>C (p.Leu398Pro) rs1945480328
NM_000062.3(SERPING1):c.1193T>G (p.Leu398Arg) rs1945480328
NM_000062.3(SERPING1):c.1193_1195dup (p.Leu398_Pro399insLeu)
NM_000062.3(SERPING1):c.1202T>C (p.Ile401Thr) rs1263371770
NM_000062.3(SERPING1):c.120_121del (p.Gly41fs)
NM_000062.3(SERPING1):c.1216del (p.Ser406fs)
NM_000062.3(SERPING1):c.1226T>C (p.Met409Thr)
NM_000062.3(SERPING1):c.1229T>C (p.Leu410Pro)
NM_000062.3(SERPING1):c.1246_1247insGCTCTCAAATCA (p.Leu416delinsCysSerGlnIleMet)
NM_000062.3(SERPING1):c.1249+1G>A rs112565881
NM_000062.3(SERPING1):c.1249+2T>G
NM_000062.3(SERPING1):c.1250-1G>A
NM_000062.3(SERPING1):c.1264dup (p.Ser422fs)
NM_000062.3(SERPING1):c.1265del (p.Ser422fs)
NM_000062.3(SERPING1):c.1269del (p.Ser422_Tyr423insTer)
NM_000062.3(SERPING1):c.1280T>C (p.Leu427Pro)
NM_000062.3(SERPING1):c.1287del (p.Gly429_Leu430insTer)
NM_000062.3(SERPING1):c.1289T>A (p.Leu430Gln) rs281875174
NM_000062.3(SERPING1):c.1289T>C (p.Leu430Pro)
NM_000062.3(SERPING1):c.1289T>G (p.Leu430Arg) rs281875174
NM_000062.3(SERPING1):c.1289_1299del (p.Leu430fs)
NM_000062.3(SERPING1):c.1293del (p.Glu432fs)
NM_000062.3(SERPING1):c.1309C>T (p.Gln437Ter) rs2135327898
NM_000062.3(SERPING1):c.130A>T (p.Lys44Ter)
NM_000062.3(SERPING1):c.1323_1344del (p.Met441fs)
NM_000062.3(SERPING1):c.1324C>T (p.Gln442Ter)
NM_000062.3(SERPING1):c.1325del (p.Gln442fs)
NM_000062.3(SERPING1):c.1328A>G (p.His443Arg)
NM_000062.3(SERPING1):c.1337_1341del (p.Val446fs)
NM_000062.3(SERPING1):c.1352A>G (p.Glu451Gly)
NM_000062.3(SERPING1):c.1356dup (p.Gly453fs)
NM_000062.3(SERPING1):c.1367C>A (p.Ala456Glu)
NM_000062.3(SERPING1):c.1375G>C (p.Ala459Pro)
NM_000062.3(SERPING1):c.1376C>A (p.Ala459Asp)
NM_000062.3(SERPING1):c.1379C>A (p.Ser460Tyr)
NM_000062.3(SERPING1):c.1391_1392del (p.Val464fs)
NM_000062.3(SERPING1):c.1393_1394del (p.Ala465fs)
NM_000062.3(SERPING1):c.1396C>G (p.Arg466Gly)
NM_000062.3(SERPING1):c.1412T>C (p.Phe471Ser)
NM_000062.3(SERPING1):c.1423C>T (p.Gln475Ter)
NM_000062.3(SERPING1):c.1429T>C (p.Phe477Leu) rs2135328208
NM_000062.3(SERPING1):c.1430T>C (p.Phe477Ser)
NM_000062.3(SERPING1):c.1439T>A (p.Val480Glu)
NM_000062.3(SERPING1):c.1442T>C (p.Leu481Pro)
NM_000062.3(SERPING1):c.1450C>T (p.Gln484Ter) rs2135328243
NM_000062.3(SERPING1):c.1466C>G (p.Pro489Arg)
NM_000062.3(SERPING1):c.1477G>C (p.Gly493Arg)
NM_000062.3(SERPING1):c.1478G>A (p.Gly493Glu)
NM_000062.3(SERPING1):c.1479del (p.Arg494fs)
NM_000062.3(SERPING1):c.1479dup (p.Arg494fs)
NM_000062.3(SERPING1):c.1481delinsCTGACCCCATGA (p.Arg494fs)
NM_000062.3(SERPING1):c.1490A>G (p.Asp497Gly) rs281875178
NM_000062.3(SERPING1):c.1492C>T (p.Pro498Ser)
NM_000062.3(SERPING1):c.1493C>G (p.Pro498Arg)
NM_000062.3(SERPING1):c.1503A>C (p.Ter501Cys)
NM_000062.3(SERPING1):c.208_212del (p.Ser70fs)
NM_000062.3(SERPING1):c.285del (p.Thr96fs)
NM_000062.3(SERPING1):c.301C>T (p.Gln101Ter)
NM_000062.3(SERPING1):c.308_311dup (p.Gln104fs)
NM_000062.3(SERPING1):c.310C>T (p.Gln104Ter)
NM_000062.3(SERPING1):c.312dup (p.Pro105fs)
NM_000062.3(SERPING1):c.35T>G (p.Leu12Arg)
NM_000062.3(SERPING1):c.377_378del (p.Pro126fs)
NM_000062.3(SERPING1):c.382_391dup (p.Ser131fs)
NM_000062.3(SERPING1):c.403_404del (p.His136fs)
NM_000062.3(SERPING1):c.403_418del (p.Ser135fs)
NM_000062.3(SERPING1):c.415G>T (p.Glu139Ter)
NM_000062.3(SERPING1):c.430del (p.Asp144fs) rs1565169693
NM_000062.3(SERPING1):c.437del (p.Leu146fs)
NM_000062.3(SERPING1):c.449C>T (p.Ser150Phe)
NM_000062.3(SERPING1):c.44del (p.Leu15fs)
NM_000062.3(SERPING1):c.452T>C (p.Leu151Pro)
NM_000062.3(SERPING1):c.458T>G (p.Leu153Arg)
NM_000062.3(SERPING1):c.461A>G (p.Tyr154Cys) rs281875168
NM_000062.3(SERPING1):c.468del (p.Phe157fs)
NM_000062.3(SERPING1):c.473C>G (p.Ser158Ter)
NM_000062.3(SERPING1):c.506T>C (p.Phe169Ser)
NM_000062.3(SERPING1):c.51+1G>T
NM_000062.3(SERPING1):c.51+3A>C
NM_000062.3(SERPING1):c.516del (p.Phe172fs)
NM_000062.3(SERPING1):c.519C>A (p.Ser173Arg)
NM_000062.3(SERPING1):c.52-1G>A rs886041353
NM_000062.3(SERPING1):c.52-2A>G
NM_000062.3(SERPING1):c.538C>T (p.Gln180Ter) rs2135308831
NM_000062.3(SERPING1):c.539_543delinsT (p.Gln180fs)
NM_000062.3(SERPING1):c.550+1G>C
NM_000062.3(SERPING1):c.550+2T>A
NM_000062.3(SERPING1):c.550+5G>A
NM_000062.3(SERPING1):c.551-1G>C rs2135311222
NM_000062.3(SERPING1):c.553G>C (p.Ala185Pro)
NM_000062.3(SERPING1):c.554C>A (p.Ala185Asp)
NM_000062.3(SERPING1):c.578T>C (p.Leu193Pro)
NM_000062.3(SERPING1):c.594_600del (p.Tyr199fs)
NM_000062.3(SERPING1):c.599C>T (p.Pro200Leu)
NM_000062.3(SERPING1):c.613T>C (p.Cys205Arg)
NM_000062.3(SERPING1):c.620A>G (p.His207Arg)
NM_000062.3(SERPING1):c.622C>T (p.Gln208Ter)
NM_000062.3(SERPING1):c.623dup (p.Ala209fs) rs2135311324
NM_000062.3(SERPING1):c.64dup (p.Ser22fs)
NM_000062.3(SERPING1):c.664_667del (p.Ser222fs)
NM_000062.3(SERPING1):c.666_667del (p.Gln223fs)
NM_000062.3(SERPING1):c.667C>T (p.Gln223Ter)
NM_000062.3(SERPING1):c.674T>C (p.Phe225Ser)
NM_000062.3(SERPING1):c.685+1del
NM_000062.3(SERPING1):c.685+4dup
NM_000062.3(SERPING1):c.686-12A>G
NM_000062.3(SERPING1):c.686-2A>G
NM_000062.3(SERPING1):c.689T>C (p.Leu230Pro) rs281875171
NM_000062.3(SERPING1):c.6_13del (p.Ser3fs)
NM_000062.3(SERPING1):c.704_721del (p.Thr235_Ser240del)
NM_000062.3(SERPING1):c.706T>G (p.Phe236Val)
NM_000062.3(SERPING1):c.707T>C (p.Phe236Ser)
NM_000062.3(SERPING1):c.718T>C (p.Ser240Pro)
NM_000062.3(SERPING1):c.722G>C (p.Arg241Pro)
NM_000062.3(SERPING1):c.723dup (p.Thr242fs)
NM_000062.3(SERPING1):c.728T>C (p.Leu243Pro)
NM_000062.3(SERPING1):c.732C>A (p.Tyr244Ter)
NM_000062.3(SERPING1):c.743C>G (p.Pro248Arg)
NM_000062.3(SERPING1):c.744dup (p.Arg249fs)
NM_000062.3(SERPING1):c.751del (p.Val250_Leu251insTer)
NM_000062.3(SERPING1):c.752T>C (p.Leu251Pro) rs1554995774
NM_000062.3(SERPING1):c.771_774delinsTCATCAACTGTTGATGAG (p.Asn258fs)
NM_000062.3(SERPING1):c.779_780del (p.Glu260fs)
NM_000062.3(SERPING1):c.787_794dup (p.Trp265Ter)
NM_000062.3(SERPING1):c.793T>C (p.Trp265Arg)
NM_000062.3(SERPING1):c.793_794insTGGCCACCT (p.Thr264_Trp265insLeuAlaThr)
NM_000062.3(SERPING1):c.794G>A (p.Trp265Ter)
NM_000062.3(SERPING1):c.79_85del (p.Thr27fs)
NM_000062.3(SERPING1):c.808A>C (p.Thr270Pro) rs1590826505
NM_000062.3(SERPING1):c.808_809delinsCAA (p.Thr270fs)
NM_000062.3(SERPING1):c.809C>A (p.Thr270Asn)
NM_000062.3(SERPING1):c.810CAA[2] (p.Asn272del)
NM_000062.3(SERPING1):c.820A>G (p.Ile274Val)
NM_000062.3(SERPING1):c.82dup (p.Ser28fs)
NM_000062.3(SERPING1):c.846del (p.Ser283fs)
NM_000062.3(SERPING1):c.860T>C (p.Leu287Pro)
NM_000062.3(SERPING1):c.860T>G (p.Leu287Arg)
NM_000062.3(SERPING1):c.865CTC[1] (p.Leu290del)
NM_000062.3(SERPING1):c.874G>C (p.Ala292Pro)
NM_000062.3(SERPING1):c.889+81G>C rs1294849803
NM_000062.3(SERPING1):c.896G>A (p.Trp299Ter)
NM_000062.3(SERPING1):c.908T>C (p.Phe303Ser) rs1590826703
NM_000062.3(SERPING1):c.925A>T (p.Arg309Ter)
NM_000062.3(SERPING1):c.937T>C (p.Phe313Leu)
NM_000062.3(SERPING1):c.950del (p.Asn317fs)
NM_000062.3(SERPING1):c.950dup (p.Asn317fs)
NM_000062.3(SERPING1):c.954del (p.Val319fs)
NM_000062.3(SERPING1):c.963del (p.Val322fs)
NM_000062.3(SERPING1):c.971T>A (p.Met324Lys)
NM_000062.3(SERPING1):c.971T>G (p.Met324Arg)
NM_000062.3(SERPING1):c.976_979delinsTACCCTGT (p.Asn326fs)
NM_000062.3(SERPING1):c.981_987del (p.Lys328fs)
NM_000062.3(SERPING1):c.995T>G (p.Val332Gly)
NM_000062.3(SERPING1):c.998C>A (p.Ala333Asp)

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