ClinVar Miner

List of variants in gene CP reported as pathogenic for not provided

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Gene type:
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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_000096.4(CP):c.2670C>G (p.Tyr890Ter) rs1043139127 0.00004
NM_000096.4(CP):c.147-2A>G rs1057518247 0.00001
NM_000096.4(CP):c.2701C>T (p.Arg901Ter) rs386134156 0.00001
NM_000096.4(CP):c.1208+1G>A rs1553762556
NM_000096.4(CP):c.146+1G>A rs386134134
NM_000096.4(CP):c.2066del (p.Pro689fs) rs386134147
NM_000096.4(CP):c.2527_2528del (p.Ser843fs) rs1725821400
NM_000096.4(CP):c.2630G>A (p.Trp877Ter) rs121909579

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