ClinVar Miner

Variants in gene CP with conflicting interpretations "likely benign" and "benign"

Submission 1 (likely benign) minimum review status: Submission 1 (likely benign) method:
Submission 2 (benign) minimum review status: Submission 2 (benign) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 16
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HGVS dbSNP gnomAD frequency
NM_000096.4(CP):c.2554+17G>A rs35593818 0.02896
NM_000096.4(CP):c.1652C>T (p.Thr551Ile) rs61733458 0.02154
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.2286-12T>G rs183671127 0.01016
NM_000096.4(CP):c.1275T>C (p.Tyr425=) rs34237139 0.00484
NM_000096.4(CP):c.1348+9T>C rs35272481 0.00465
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.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.2611G>A (p.Asp871Asn) rs529607771 0.00001
NM_000096.4(CP):c.2286-14dup rs561633350
NM_000096.4(CP):c.2286-15G>T rs34861155

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