ClinVar Miner

List of variants in gene CP reported as likely benign by Illumina Laboratory Services, Illumina

Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_000096.4(CP):c.1099C>T (p.Arg367Cys) rs34624984 0.01447
NM_000096.4(CP):c.1209-15T>A rs35465173 0.01446
NM_000096.4(CP):c.2378G>A (p.Arg793His) rs115552500 0.01239
NM_000096.4(CP):c.2522C>G (p.Thr841Arg) rs56033670 0.00435
NM_000096.4(CP):c.1430C>T (p.Pro477Leu) rs35331711 0.00242
NM_000096.4(CP):c.322C>T (p.His108Tyr) rs34386552 0.00235
NM_000096.4(CP):c.993T>C (p.Pro331=) rs17847025 0.00213
NM_000096.4(CP):c.2793A>G (p.Leu931=) rs34987997 0.00186
NM_000096.4(CP):c.2997C>T (p.His999=) rs147475926 0.00029
NM_000096.4(CP):c.1493A>G (p.Gln498Arg) rs17847018 0.00011
NM_000096.4(CP):c.2611G>A (p.Asp871Asn) rs529607771 0.00001

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