List of variants in gene SERPING1 reported as pathogenic by GeneDx

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 12

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HGVS	dbSNP	gnomAD frequency
NM_000062.3(SERPING1):c.1169_1175del (p.Lys390fs)	rs1064793917
NM_000062.3(SERPING1):c.1396C>T (p.Arg466Cys)	rs28940870
NM_000062.3(SERPING1):c.1397G>A (p.Arg466His)	rs121907948
NM_000062.3(SERPING1):c.1397G>C (p.Arg466Pro)	rs121907948
NM_000062.3(SERPING1):c.1480C>T (p.Arg494Ter)	rs922149386
NM_000062.3(SERPING1):c.164del (p.Phe55fs)	rs1590822371
NM_000062.3(SERPING1):c.166del (p.Val56fs)	rs1554994909
NM_000062.3(SERPING1):c.52-1G>A	rs886041353
NM_000062.3(SERPING1):c.856del (p.Arg286fs)	rs1064793792
NM_000062.3(SERPING1):c.871A>C (p.Asn291His)	rs1057520366
NM_000062.3(SERPING1):c.897G>A (p.Trp299Ter)	rs2495442106
NM_000062.3(SERPING1):c.936del (p.His314fs)	rs1085307611

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