ClinVar Miner

List of variants in gene combination CP, HPS3 reported as likely benign for aceruloplasminemia

Included ClinVar conditions (1):
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Gene type:
ClinVar version:
Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_032383.5(HPS3):c.*172G>A rs34511277 0.11672
NM_032383.5(HPS3):c.*128A>G rs73019023 0.11195
NM_000096.4(CP):c.2991T>C (p.His997=) rs34394958 0.03057
NM_000096.4(CP):c.*1157C>T rs11537809 0.02347
NM_000096.4(CP):c.*137C>T rs34228141 0.02012
NM_000096.4(CP):c.*768T>C rs35805816 0.01348
NM_000096.4(CP):c.*879A>C rs144029944 0.00863
NM_000096.4(CP):c.3182-4A>G rs34272112 0.00805
NM_000096.4(CP):c.*259C>T rs192321084 0.00414
NM_000096.4(CP):c.3183C>T (p.Asp1061=) rs184845153 0.00006
NM_000096.4(CP):c.3186C>A (p.Thr1062=)

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