ClinVar Miner

List of variants reported as benign for Congenital plasminogen activator inhibitor type 1 deficiency

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Total variants: 14
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HGVS dbSNP gnomAD frequency
NM_000602.5(SERPINE1):c.*361T>C rs11178 0.43883
NM_000602.5(SERPINE1):c.*722T>G rs7242 0.43869
NM_000602.5(SERPINE1):c.*1737G>A rs1050955 0.24319
NM_000602.5(SERPINE1):c.*892G>A rs1050813 0.14284
NM_000602.5(SERPINE1):c.*690T>C rs7241 0.03895
NM_000602.5(SERPINE1):c.*1186C>T rs2227714 0.03491
NM_000602.5(SERPINE1):c.49G>A (p.Val17Ile) rs6090 0.03360
NM_000602.5(SERPINE1):c.*1449C>T rs2227716 0.02335
NM_000602.5(SERPINE1):c.*1358T>C rs2227700 0.01191
NM_000602.5(SERPINE1):c.899+12C>T rs116128114 0.00550
NM_000602.5(SERPINE1):c.*752C>A rs374321581 0.00014
NM_000602.5(SERPINE1):c.555G>C (p.Arg185=) rs201293550 0.00011
NM_000602.5(SERPINE1):c.*685C>T rs1050766
NM_000602.5(SERPINE1):c.*997_*1005dup rs41423845

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