ClinVar Miner

List of variants in gene SERPING1 reported as likely pathogenic for not provided

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Gene type:
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Total variants: 24
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HGVS dbSNP gnomAD frequency
NM_000062.3(SERPING1):c.1481G>A (p.Arg494Gln) rs1363997186 0.00001
NM_000062.3(SERPING1):c.1029+1G>T
NM_000062.3(SERPING1):c.1187T>C (p.Leu396Pro) rs1945480228
NM_000062.3(SERPING1):c.1195C>G (p.Pro399Ala) rs2135324767
NM_000062.3(SERPING1):c.1249G>T (p.Glu417Ter) rs755108467
NM_000062.3(SERPING1):c.1353_1354del (p.Glu451fs) rs1554996833
NM_000062.3(SERPING1):c.1378T>C (p.Ser460Pro) rs2135328049
NM_000062.3(SERPING1):c.1397G>T (p.Arg466Leu) rs121907948
NM_000062.3(SERPING1):c.1409del (p.Val470fs) rs1590831492
NM_000062.3(SERPING1):c.1458_1465delinsA (p.His486fs) rs1554996859
NM_000062.3(SERPING1):c.461A>C (p.Tyr154Ser)
NM_000062.3(SERPING1):c.498C>A (p.Asn166Lys)
NM_000062.3(SERPING1):c.51+3A>T
NM_000062.3(SERPING1):c.51+5G>T rs1554994665
NM_000062.3(SERPING1):c.512C>T (p.Pro171Leu) rs1064793350
NM_000062.3(SERPING1):c.52-1G>C
NM_000062.3(SERPING1):c.550G>A (p.Gly184Arg) rs281875170
NM_000062.3(SERPING1):c.551-1G>A
NM_000062.3(SERPING1):c.566C>A (p.Thr189Asn)
NM_000062.3(SERPING1):c.615T>G (p.Cys205Trp) rs1274312627
NM_000062.3(SERPING1):c.752T>C (p.Leu251Pro) rs1554995774
NM_000062.3(SERPING1):c.810CAA[2] (p.Asn272del)
NM_000062.3(SERPING1):c.979_980delinsGTGCC (p.Ser327delinsValPro) rs1945411643
NM_000062.3(SERPING1):c.983_994del (p.Lys328_Val332delinsMet)

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