ClinVar Miner

List of variants in gene SPINK1 reported as benign for Hereditary pancreatitis

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Total variants: 16
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HGVS dbSNP gnomAD frequency
NM_001379610.1(SPINK1):c.174C>T (p.Cys58=) rs35737774 0.04434
NM_001379610.1(SPINK1):c.-41G>A rs79438751 0.03918
NM_001379610.1(SPINK1):c.194+90A>T rs112569673 0.03151
NM_001379610.1(SPINK1):c.36G>C (p.Leu12Phe) rs35877720 0.03139
NM_001379610.1(SPINK1):c.194+184T>A rs114094661 0.01063
NM_001379610.1(SPINK1):c.200G>A (p.Arg67His) rs35523678 0.01028
NM_001379610.1(SPINK1):c.231G>A (p.Gly77=) rs34809998 0.00827
NM_001379610.1(SPINK1):c.56-37T>C rs17107318 0.00736
NM_001379610.1(SPINK1):c.163C>T (p.Pro55Ser) rs111966833 0.00389
NM_001379610.1(SPINK1):c.88-23A>T rs199929811 0.00219
NM_001379610.1(SPINK1):c.75C>T (p.Ser25=) rs35006579 0.00133
NM_001379610.1(SPINK1):c.-22C>T rs190219062 0.00051
NM_001379610.1(SPINK1):c.33C>T (p.Ala11=) rs147454311 0.00048
NM_001379610.1(SPINK1):c.*34C>T rs377333227 0.00001
NM_001379610.1(SPINK1):c.195-15dup
NM_001379610.1(SPINK1):c.195-70_195-67dup rs554919880

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