ClinVar Miner

List of variants in gene CP reported as uncertain significance by Illumina Laboratory Services, Illumina

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Gene type:
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Total variants: 56
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HGVS dbSNP gnomAD frequency
NM_000096.4(CP):c.2571C>T (p.Tyr857=) rs151304828 0.00189
NM_000096.4(CP):c.2684G>C (p.Gly895Ala) rs139633388 0.00162
NM_000096.3(CP):c.-183T>C rs185578646 0.00099
NM_000096.4(CP):c.2554+8C>T rs749646388 0.00049
NM_000096.4(CP):c.2446G>A (p.Val816Ile) rs139058165 0.00042
NM_000096.4(CP):c.788A>G (p.Asn263Ser) rs150303869 0.00041
NM_000096.4(CP):c.938C>T (p.Thr313Ile) rs144401501 0.00037
NM_000096.4(CP):c.2565C>T (p.Leu855=) rs781672409 0.00026
NM_000096.4(CP):c.2158C>T (p.Arg720Trp) rs145784949 0.00025
NM_000096.4(CP):c.1104G>C (p.Gly368=) rs142503847 0.00021
NM_000096.4(CP):c.1217C>A (p.Ala406Glu) rs147034302 0.00019
NM_000096.4(CP):c.944A>G (p.Asn315Ser) rs370682704 0.00017
NM_000096.4(CP):c.1191C>G (p.Asn397Lys) rs146229133 0.00015
NM_000096.4(CP):c.151C>T (p.His51Tyr) rs150681942 0.00015
NM_000096.3(CP):c.-165C>T rs536533840 0.00013
NM_000096.4(CP):c.93G>A (p.Thr31=) rs201521886 0.00013
NM_000096.4(CP):c.3006C>T (p.Ser1002=) rs199877380 0.00011
NM_000096.4(CP):c.782-3C>T rs375191868 0.00011
NM_000096.4(CP):c.1357A>G (p.Ile453Val) rs145762017 0.00010
NM_000096.4(CP):c.2998G>A (p.Gly1000Ser) rs187293972 0.00007
NM_000096.3(CP):c.-199C>G rs772691705 0.00006
NM_000096.4(CP):c.3130G>A (p.Asp1044Asn) rs149217680 0.00006
NM_000096.4(CP):c.1131C>T (p.Ala377=) rs150733154 0.00005
NM_000096.4(CP):c.2662-14T>C rs189155564 0.00004
NM_000096.4(CP):c.1575A>G (p.Val525=) rs760634973 0.00003
NM_000096.4(CP):c.164A>G (p.Tyr55Cys) rs756029950 0.00002
NM_000096.4(CP):c.1907T>C (p.Met636Thr) rs776909143 0.00002
NM_000096.4(CP):c.199T>C (p.Tyr67His) rs201599525 0.00002
NM_000096.4(CP):c.229G>C (p.Asp77His) rs200683433 0.00002
NM_000096.4(CP):c.2310G>A (p.Lys770=) rs553883583 0.00002
NM_000096.4(CP):c.259C>T (p.Pro87Ser) rs749061188 0.00002
NM_000096.4(CP):c.936C>T (p.Asp312=) rs373073229 0.00002
NM_000096.4(CP):c.1037-3C>A rs754289834 0.00001
NM_000096.4(CP):c.125A>G (p.Lys42Arg) rs886058090 0.00001
NM_000096.4(CP):c.1309A>G (p.Lys437Glu) rs764238637 0.00001
NM_000096.4(CP):c.1379C>T (p.Thr460Ile) rs370863732 0.00001
NM_000096.4(CP):c.1380C>T (p.Thr460=) rs149790356 0.00001
NM_000096.4(CP):c.1478C>T (p.Pro493Leu) rs1391447500 0.00001
NM_000096.4(CP):c.1713+3A>G rs372361874 0.00001
NM_000096.4(CP):c.2180T>C (p.Phe727Ser) rs886058087 0.00001
NM_000096.4(CP):c.2266C>A (p.His756Asn) rs773420516 0.00001
NM_000096.4(CP):c.2697T>C (p.Val899=) rs17847022 0.00001
NM_000096.4(CP):c.1199C>A (p.Ala400Glu) rs1446212124
NM_000096.4(CP):c.1774C>G (p.Leu592Val) rs200226362
NM_000096.4(CP):c.1774C>T (p.Leu592Phe) rs200226362
NM_000096.4(CP):c.1864+1G>C rs1559942361
NM_000096.4(CP):c.1973T>C (p.Ile658Thr) rs1726190460
NM_000096.4(CP):c.2268T>C (p.His756=) rs765341479
NM_000096.4(CP):c.2286-14dup rs561633350
NM_000096.4(CP):c.2496C>T (p.Tyr832=) rs1199272207
NM_000096.4(CP):c.2557G>A (p.Glu853Lys) rs886058086
NM_000096.4(CP):c.2621G>A (p.Cys874Tyr) rs570400135
NM_000096.4(CP):c.508G>A (p.Gly170Arg) rs886058089
NM_000096.4(CP):c.701A>G (p.Asp234Gly) rs769311718
NM_000096.4(CP):c.850T>C (p.Tyr284His) rs886058088
NM_000096.4(CP):c.921G>A (p.Lys307=) rs543777038

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