ClinVar Miner

List of variants in gene PRSS12 reported as uncertain significance by Genetic Services Laboratory, University of Chicago

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Total variants: 25
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HGVS dbSNP gnomAD frequency
NM_003619.4(PRSS12):c.523G>A (p.Gly175Ser) rs145151396 0.00273
NM_003619.4(PRSS12):c.323C>G (p.Pro108Arg) rs199996930 0.00196
NM_003619.4(PRSS12):c.821-1G>A rs147303693 0.00106
NM_003619.4(PRSS12):c.2054C>T (p.Thr685Ile) rs201801258 0.00011
NM_003619.4(PRSS12):c.2320+6G>C rs369283461 0.00010
NM_003619.4(PRSS12):c.1357G>A (p.Val453Ile) rs778632400 0.00008
NM_003619.4(PRSS12):c.772G>A (p.Val258Met) rs370713768 0.00006
NM_003619.4(PRSS12):c.817C>G (p.His273Asp) rs780617057 0.00005
NM_003619.4(PRSS12):c.2128dup (p.Gln710fs) rs757141803 0.00003
NM_003619.4(PRSS12):c.2146C>T (p.Arg716Trp) rs764303768 0.00001
NM_003619.4(PRSS12):c.2147G>A (p.Arg716Gln) rs985299480 0.00001
NM_003619.4(PRSS12):c.2324G>A (p.Arg775Gln) rs200836722 0.00001
NM_003619.4(PRSS12):c.907A>G (p.Thr303Ala) rs797045903 0.00001
NM_003619.4(PRSS12):c.977T>C (p.Ile326Thr) rs767574605 0.00001
NM_003619.4(PRSS12):c.997G>A (p.Ala333Thr) rs749028385 0.00001
NM_003619.4(PRSS12):c.1492T>A (p.Phe498Ile) rs797045901
NM_003619.4(PRSS12):c.1746A>G (p.Gln582=) rs777027226
NM_003619.4(PRSS12):c.1917-9del rs770190361
NM_003619.4(PRSS12):c.192_193dup (p.Phe65fs) rs1243970842
NM_003619.4(PRSS12):c.1946G>A (p.Arg649Gln) rs771497164
NM_003619.4(PRSS12):c.19G>A (p.Val7Met) rs148007619
NM_003619.4(PRSS12):c.2415A>C (p.Arg805Ser) rs1742891794
NM_003619.4(PRSS12):c.243G>C (p.Gln81His) rs797045902
NM_003619.4(PRSS12):c.2588C>T (p.Ser863Leu) rs2126024960
NM_003619.4(PRSS12):c.428G>A (p.Gly143Asp) rs1553959294

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