ClinVar Miner

List of variants in gene CP reported by Genetic Services Laboratory, University of Chicago

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Gene type:
ClinVar version:
Total variants: 20
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HGVS dbSNP gnomAD frequency
NM_000096.4(CP):c.1950A>C (p.Gly650=) rs1053709 0.04222
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.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.2571C>T (p.Tyr857=) rs151304828 0.00189
NM_000096.4(CP):c.2793A>G (p.Leu931=) rs34987997 0.00186
NM_000096.4(CP):c.2684G>C (p.Gly895Ala) rs139633388 0.00162
NM_000096.4(CP):c.944A>G (p.Asn315Ser) rs370682704 0.00017
NM_000096.4(CP):c.1493A>G (p.Gln498Arg) rs17847018 0.00011
NM_000096.4(CP):c.1960G>A (p.Asp654Asn) rs755243937 0.00004
NM_000096.4(CP):c.530G>A (p.Arg177Lys) rs142350562 0.00004
NM_000096.4(CP):c.828T>C (p.Cys276=) rs781181406 0.00003
NM_000096.4(CP):c.1948G>A (p.Gly650Arg) rs776936158 0.00002
NM_000096.4(CP):c.2500A>G (p.Ile834Val) rs1377096899 0.00001
NM_000096.4(CP):c.656T>A (p.Val219Glu) rs587780321 0.00001
NM_000096.4(CP):c.2847T>G (p.Asp949Glu) rs201431095
NM_000096.4(CP):c.737T>G (p.Val246Gly) rs797045480

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