ClinVar Miner

List of variants in gene C5AR1 reported as uncertain significance by Ambry Genetics

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Total variants: 36
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HGVS dbSNP gnomAD frequency
NM_001736.4(C5AR1):c.491C>A (p.Ala164Asp) rs145736934 0.00028
NM_001736.4(C5AR1):c.1024A>G (p.Thr342Ala) rs150946126 0.00019
NM_001736.4(C5AR1):c.490G>T (p.Ala164Ser) rs201363451 0.00017
NM_001736.4(C5AR1):c.779T>G (p.Val260Gly) rs555224019 0.00015
NM_001736.4(C5AR1):c.130T>C (p.Phe44Leu) rs200740207 0.00012
NM_001736.4(C5AR1):c.155T>C (p.Val52Ala) rs140370073 0.00006
NM_001736.4(C5AR1):c.295C>T (p.His99Tyr) rs377325254 0.00006
NM_001736.4(C5AR1):c.235G>A (p.Ala79Thr) rs763699139 0.00004
NM_001736.4(C5AR1):c.316G>A (p.Gly106Arg) rs750171124 0.00004
NM_001736.4(C5AR1):c.682C>T (p.Arg228Trp) rs146163744 0.00004
NM_001736.4(C5AR1):c.901G>A (p.Val301Met) rs201592709 0.00004
NM_001736.4(C5AR1):c.846C>G (p.Asp282Glu) rs144060719 0.00003
NM_001736.4(C5AR1):c.943C>T (p.Leu315Phe) rs201304523 0.00003
NM_001736.4(C5AR1):c.532C>T (p.Arg178Trp) rs750580655 0.00002
NM_001736.4(C5AR1):c.1048G>A (p.Val350Met) rs367719223 0.00001
NM_001736.4(C5AR1):c.1007C>T (p.Thr336Met)
NM_001736.4(C5AR1):c.1040C>A (p.Thr347Asn)
NM_001736.4(C5AR1):c.124G>T (p.Val42Phe)
NM_001736.4(C5AR1):c.236C>T (p.Ala79Val)
NM_001736.4(C5AR1):c.25C>A (p.Pro9Thr)
NM_001736.4(C5AR1):c.263C>T (p.Ala88Val)
NM_001736.4(C5AR1):c.424A>T (p.Ile142Phe)
NM_001736.4(C5AR1):c.475G>A (p.Val159Met)
NM_001736.4(C5AR1):c.515T>A (p.Phe172Tyr)
NM_001736.4(C5AR1):c.523C>T (p.Arg175Trp)
NM_001736.4(C5AR1):c.553A>C (p.Lys185Gln) rs2514890208
NM_001736.4(C5AR1):c.556G>T (p.Val186Leu) rs2059305113
NM_001736.4(C5AR1):c.617G>C (p.Arg206Pro)
NM_001736.4(C5AR1):c.683G>A (p.Arg228Gln)
NM_001736.4(C5AR1):c.692G>A (p.Ser231Asn)
NM_001736.4(C5AR1):c.704C>T (p.Thr235Met)
NM_001736.4(C5AR1):c.707G>A (p.Arg236Gln)
NM_001736.4(C5AR1):c.776A>T (p.Gln259Leu)
NM_001736.4(C5AR1):c.812C>T (p.Ser271Leu) rs200857143
NM_001736.4(C5AR1):c.815C>T (p.Ser272Leu)
NM_001736.4(C5AR1):c.86C>A (p.Thr29Asn) rs2514889569

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