Total 34 pathogenic variants reported for Hereditary angioedema with C1Inh deficiency

Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	dbSNP ID	Variation/condition record
NM_000062.3(SERPING1):c.708T>G (p.Phe236Leu)	SNV Unknown	Chr11:57606032	Likely pathogenic	Hereditary angioedema with C1Inh deficiency	No Assertion Criteria Provided	rs_2135317558	1 SubmittersRCV002221645
NM_000062.3(SERPING1):c.1100T>G (p.Leu367Arg)	SNV Unknown	Chr11:57611787	Likely pathogenic	Hereditary angioedema with C1Inh deficiency	No Assertion Criteria Provided	rs_2135324578	1 SubmittersRCV002221656
NM_000062.3(SERPING1):c.1192C>G (p.Leu398Val)	SNV Unknown	Chr11:57611879	Likely pathogenic	Hereditary angioedema with C1Inh deficiency	No Assertion Criteria Provided	rs_2135324760	1 SubmittersRCV002221658
NM_000062.3(SERPING1):c.1193T>G (p.Leu398Arg)	SNV Germline	Chr11:57611880	Pathogenic	Hereditary angioedema with C1Inh deficiency Hereditary angioedema type 1	Criteria Provided Single Submitter	rs_1945480328	2 SubmittersRCV002221659 RCV004671425
NM_000062.3(SERPING1):c.1249+2T>C	SNV Unknown	Chr11:57611938	Pathogenic	Hereditary angioedema with C1Inh deficiency	No Assertion Criteria Provided	rs_2135324885	1 SubmittersRCV002221660
NM_000062.3(SERPING1):c.1289T>G (p.Leu430Arg)	SNV Germline	Chr11:57614367	Pathogenic	Hereditary angioedema with C1Inh deficiency Hereditary angioedema type 1	Criteria Provided Single Submitter	rs_281875174	2 SubmittersRCV002221661 RCV004587197
NM_000062.3(SERPING1):c.1379C>G (p.Ser460Cys)	SNV Unknown	Chr11:57614457	Likely pathogenic	Hereditary angioedema with C1Inh deficiency	No Assertion Criteria Provided	rs_2135328051	1 SubmittersRCV002221662
NM_000062.3(SERPING1):c.1422G>C (p.Gln474His)	SNV Unknown	Chr11:57614500	Likely pathogenic	Hereditary angioedema with C1Inh deficiency	No Assertion Criteria Provided	rs_1450674538	1 SubmittersRCV002221663
NM_000062.3(SERPING1):c.1424A>C (p.Gln475Pro)	SNV Unknown	Chr11:57614502	Likely pathogenic	Hereditary angioedema with C1Inh deficiency	No Assertion Criteria Provided	rs_1945516584	1 SubmittersRCV002221665
NM_000062.3(SERPING1):c.1425G>T (p.Gln475His)	SNV Unknown	Chr11:57614503	Likely pathogenic	Hereditary angioedema with C1Inh deficiency	No Assertion Criteria Provided	rs_1945516624	1 SubmittersRCV002221666
NM_000062.3(SERPING1):c.229A>T (p.Lys77Ter)	SNV Unknown	Chr11:57600056	Pathogenic	Hereditary angioedema with C1Inh deficiency	No Assertion Criteria Provided	rs_2135308228	1 SubmittersRCV002221668
NM_000062.3(SERPING1):c.538C>T (p.Gln180Ter)	SNV Germline	Chr11:57600365	Pathogenic	Hereditary angioedema with C1Inh deficiency Hereditary angioedema type 1	Criteria Provided Single Submitter	rs_2135308831	2 SubmittersRCV002221670 RCV004587198
NM_000062.3(SERPING1):c.550+1G>T	SNV Unknown	Chr11:57600378	Pathogenic	Hereditary angioedema with C1Inh deficiency	No Assertion Criteria Provided	rs_2135308859	1 SubmittersRCV002221671
NM_000062.3(SERPING1):c.1269T>A (p.Tyr423Ter)	SNV Unknown	Chr11:57614347	Pathogenic	Hereditary angioedema with C1Inh deficiency	No Assertion Criteria Provided	rs_750873571	1 SubmittersRCV002259399