ClinVar Miner

List of variants in gene PROC reported as likely pathogenic by NIHR Bioresource Rare Diseases, University of Cambridge

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Gene type:
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Total variants: 24
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HGVS dbSNP gnomAD frequency
NM_000312.4(PROC):c.565C>T (p.Arg189Trp) rs146922325 0.00026
NM_000312.4(PROC):c.814C>T (p.Arg272Cys) rs121918154 0.00004
NM_000312.4(PROC):c.1201G>A (p.Asp401Asn) rs142742242 0.00001
NM_000312.4(PROC):c.1237A>G (p.Thr413Ala) rs572021052 0.00001
NM_000312.4(PROC):c.125G>A (p.Arg42His) rs369504169 0.00001
NM_000312.4(PROC):c.524G>A (p.Cys175Tyr) rs199469474 0.00001
NM_000312.4(PROC):c.631C>T (p.Arg211Trp) rs121918143 0.00001
NM_000312.4(PROC):c.659G>A (p.Arg220Gln) rs121918153 0.00001
NM_000312.4(PROC):c.715G>A (p.Gly239Arg) rs777486993 0.00001
NM_000312.4(PROC):c.962C>T (p.Pro321Leu) rs1321566264 0.00001
NM_000312.4(PROC):c.1019C>A (p.Thr340Lys) rs766261022
NM_000312.4(PROC):c.1163C>T (p.Ala388Val) rs769277939
NM_000312.4(PROC):c.1331G>A (p.Trp444Ter) rs1573461792
NM_000312.4(PROC):c.1368del (p.Lys457fs) rs1573461951
NM_000312.4(PROC):c.1378_1379dup (p.Pro461fs) rs1573462001
NM_000312.4(PROC):c.238-2A>G rs1573442055
NM_000312.4(PROC):c.352T>C (p.Phe118Leu) rs1553424043
NM_000312.4(PROC):c.421T>C (p.Ser141Pro) rs1573444020
NM_000312.4(PROC):c.440G>A (p.Cys147Tyr) rs1247269491
NM_000312.4(PROC):c.532G>C (p.Ala178Pro) rs1254257945
NM_000312.4(PROC):c.76G>A (p.Val26Met) rs754243426
NM_000312.4(PROC):c.793C>T (p.Leu265Phe) rs121918156
NM_000312.4(PROC):c.797-2A>T rs1186036467
NM_000312.4(PROC):c.982C>T (p.Arg328Cys) rs201907715

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