ClinVar Miner

List of variants reported as pathogenic 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: 122
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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.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.1070T>A (p.Ile357Asn)
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.115del (p.Asp39fs)
NM_000062.3(SERPING1):c.1188_1189delinsC (p.Thr397fs)
NM_000062.3(SERPING1):c.1193T>G (p.Leu398Arg) rs1945480328
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.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.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.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.1324C>T (p.Gln442Ter)
NM_000062.3(SERPING1):c.1328A>G (p.His443Arg)
NM_000062.3(SERPING1):c.1337_1341del (p.Val446fs)
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.1396C>G (p.Arg466Gly)
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.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.1492C>T (p.Pro498Ser)
NM_000062.3(SERPING1):c.1493C>G (p.Pro498Arg)
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.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.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.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.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.613T>C (p.Cys205Arg)
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.686-12A>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.706T>G (p.Phe236Val)
NM_000062.3(SERPING1):c.707T>C (p.Phe236Ser)
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.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.794G>A (p.Trp265Ter)
NM_000062.3(SERPING1):c.79_85del (p.Thr27fs)
NM_000062.3(SERPING1):c.808_809delinsCAA (p.Thr270fs)
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.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>G (p.Met324Arg)
NM_000062.3(SERPING1):c.976_979delinsTACCCTGT (p.Asn326fs)
NM_000062.3(SERPING1):c.981_987del (p.Lys328fs)

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