ClinVar Miner

List of variants reported as uncertain significance for complement deficiency by Baylor Genetics

Included ClinVar conditions (44):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 23
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HGVS dbSNP gnomAD frequency
NM_000204.5(CFI):c.1642G>C (p.Glu548Gln) rs7437875 0.00206
NM_000064.4(C3):c.4855A>C (p.Ser1619Arg) rs2230210 0.00118
NM_000063.6(C2):c.2171C>T (p.Pro724Leu) rs145050210 0.00081
NM_000204.5(CFI):c.355G>A (p.Gly119Arg) rs141853578 0.00040
NM_001735.3(C5):c.754G>A (p.Ala252Thr) rs112959008 0.00032
NM_001378373.1(MBL2):c.449A>C (p.Lys150Thr) rs149216902 0.00023
NM_001735.3(C5):c.65C>T (p.Thr22Ile) rs142075999 0.00021
NM_001735.3(C5):c.95G>A (p.Arg32His) rs144876205 0.00006
NM_172369.5(C1QC):c.538G>A (p.Val180Met) rs200292688 0.00006
NM_000587.4(C7):c.1411A>T (p.Thr471Ser) rs371379073 0.00003
NM_001737.5(C9):c.409G>A (p.Glu137Lys) rs753246845 0.00002
NM_002113.3(CFHR1):c.643G>A (p.Asp215Asn) rs781409951 0.00002
NM_003665.4(FCN3):c.620A>G (p.Tyr207Cys) rs781053078 0.00002
NM_000186.4(CFH):c.506A>G (p.His169Arg) rs768647508 0.00001
NM_001352000.1(LOC110384692):c.3442G>A (p.Ala1148Thr) rs756439916 0.00001
NM_006610.4(MASP2):c.503G>A (p.Arg168His) rs778384259 0.00001
NM_000064.4(C3):c.3343G>A (p.Asp1115Asn) rs121909585
NM_000064.4(C3):c.4867G>T (p.Gly1623Trp)
NM_000204.5(CFI):c.227C>G (p.Ala76Gly) rs1010351654
NM_001242823.2(C4B_2):c.3059C>T (p.Pro1020Leu) rs1196274661
NM_001242823.2(C4B_2):c.3453T>G (p.His1151Gln) rs1348499408
NM_006610.4(MASP2):c.1078G>A (p.Ala360Thr) rs200844905
NM_172351.3(CD46):c.558_559delinsCC (p.Val187Leu) rs1656184011

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