ClinVar Miner

List of variants in gene PRSS12 reported as uncertain significance for autosomal recessive non-syndromic intellectual disability

Included ClinVar conditions (71):
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Gene type:
ClinVar version:
Total variants: 92
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HGVS dbSNP gnomAD frequency
NM_003619.4(PRSS12):c.*1615C>T rs150249635 0.00471
NM_003619.4(PRSS12):c.523G>A (p.Gly175Ser) rs145151396 0.00273
NM_003619.4(PRSS12):c.*574A>G rs191638317 0.00147
NM_003619.4(PRSS12):c.966C>T (p.Gly322=) rs144866250 0.00116
NM_003619.4(PRSS12):c.821-1G>A rs147303693 0.00106
NM_003619.4(PRSS12):c.2460C>T (p.Ser820=) rs146650218 0.00081
NM_003619.4(PRSS12):c.*920G>C rs567789007 0.00040
NM_003619.4(PRSS12):c.1238A>G (p.Asp413Gly) rs753349424 0.00039
NM_003619.4(PRSS12):c.37G>A (p.Gly13Arg) rs140334007 0.00039
NM_003619.4(PRSS12):c.2034C>G (p.Phe678Leu) rs142551296 0.00036
NM_003619.4(PRSS12):c.2179A>G (p.Ile727Val) rs146362932 0.00026
NM_003619.4(PRSS12):c.2488_2489del (p.Met830fs) rs560855452 0.00022
NM_003619.4(PRSS12):c.1490-15T>C rs746343292 0.00019
NM_003619.4(PRSS12):c.2503G>A (p.Gly835Arg) rs139833696 0.00019
NM_003619.4(PRSS12):c.1277G>A (p.Arg426Gln) rs138640682 0.00018
NM_003619.4(PRSS12):c.*1141T>C rs574310044 0.00017
NM_003619.4(PRSS12):c.*233G>C rs886059032 0.00015
NM_003619.4(PRSS12):c.*1143C>T rs987189753 0.00014
NM_003619.4(PRSS12):c.*221A>T rs774121509 0.00014
NM_003619.4(PRSS12):c.669G>A (p.Pro223=) rs151271524 0.00014
NM_003619.4(PRSS12):c.2088T>C (p.His696=) rs141365421 0.00013
NM_003619.4(PRSS12):c.*604A>C rs551930250 0.00011
NM_003619.4(PRSS12):c.2054C>T (p.Thr685Ile) rs201801258 0.00011
NM_003619.4(PRSS12):c.1640C>A (p.Ala547Asp) rs201005601 0.00010
NM_003619.4(PRSS12):c.2320+6G>C rs369283461 0.00010
NM_003619.4(PRSS12):c.*1660T>C rs372099887 0.00007
NM_003619.4(PRSS12):c.936C>T (p.Ala312=) rs12505679 0.00007
NM_003619.4(PRSS12):c.2149G>C (p.Glu717Gln) rs754704006 0.00005
NM_003619.4(PRSS12):c.480G>C (p.Trp160Cys) rs753768799 0.00005
NM_003619.4(PRSS12):c.*800G>A rs1368772207 0.00004
NM_003619.4(PRSS12):c.177G>A (p.Pro59=) rs746966869 0.00004
NM_003619.4(PRSS12):c.1916+11C>T rs775761093 0.00004
NM_003619.4(PRSS12):c.2568T>A (p.Pro856=) rs138882049 0.00004
NM_003619.4(PRSS12):c.511C>T (p.Arg171Ter) rs751423861 0.00004
NM_003619.4(PRSS12):c.890A>G (p.His297Arg) rs756685819 0.00004
NM_003619.4(PRSS12):c.1837+1G>A rs201470712 0.00003
NM_003619.4(PRSS12):c.1879C>T (p.Arg627Trp) rs754920304 0.00003
NM_003619.4(PRSS12):c.781C>T (p.Gln261Ter) rs1205071832 0.00003
NM_003619.4(PRSS12):c.*1573G>A rs931601172 0.00002
NM_003619.4(PRSS12):c.2128dup (p.Gln710fs) rs757141803 0.00002
NM_003619.4(PRSS12):c.910G>A (p.Val304Ile) rs781361976 0.00002
NM_003619.4(PRSS12):c.*1435A>G rs1247361243 0.00001
NM_003619.4(PRSS12):c.*1499A>G rs748542086 0.00001
NM_003619.4(PRSS12):c.*658C>T rs549172615 0.00001
NM_003619.4(PRSS12):c.*904A>T rs1025703450 0.00001
NM_003619.4(PRSS12):c.1195C>T (p.Arg399Cys) rs139059047 0.00001
NM_003619.4(PRSS12):c.1293-10A>G rs374374471 0.00001
NM_003619.4(PRSS12):c.1903A>G (p.Lys635Glu) rs937952328 0.00001
NM_003619.4(PRSS12):c.1975C>T (p.Leu659Phe) rs377739049 0.00001
NM_003619.4(PRSS12):c.315C>T (p.Phe105=) rs776809807 0.00001
NM_003619.4(PRSS12):c.518G>A (p.Arg173His) rs764862487 0.00001
NM_003619.4(PRSS12):c.821-12C>G rs373973695 0.00001
NM_003619.4(PRSS12):c.*1431C>T rs548846144
NM_003619.4(PRSS12):c.*1577A>G rs1742810283
NM_003619.4(PRSS12):c.*1699T>C rs886059024
NM_003619.4(PRSS12):c.*260C>T rs886059031
NM_003619.4(PRSS12):c.*263A>G rs957795451
NM_003619.4(PRSS12):c.*278T>A rs886059030
NM_003619.4(PRSS12):c.*526T>A rs886059029
NM_003619.4(PRSS12):c.*531C>A rs886059028
NM_003619.4(PRSS12):c.*830C>T rs886059026
NM_003619.4(PRSS12):c.*839T>C rs1343646133
NM_003619.4(PRSS12):c.*842C>G rs886059025
NM_003619.4(PRSS12):c.*849C>T rs1742836402
NM_003619.4(PRSS12):c.*906A>G rs1742834260
NM_003619.4(PRSS12):c.*950A>C rs1314051273
NM_003619.4(PRSS12):c.113C>T (p.Pro38Leu)
NM_003619.4(PRSS12):c.121C>T (p.Pro41Ser) rs761103069
NM_003619.4(PRSS12):c.1381A>G (p.Arg461Gly) rs1743806508
NM_003619.4(PRSS12):c.1395T>A (p.Cys465Ter) rs1560774339
NM_003619.4(PRSS12):c.1402C>T (p.Arg468Ter)
NM_003619.4(PRSS12):c.1512T>C (p.Asp504=) rs886059035
NM_003619.4(PRSS12):c.1722G>A (p.Arg574=) rs1743319957
NM_003619.4(PRSS12):c.1788A>T (p.Gly596=) rs886059034
NM_003619.4(PRSS12):c.1917-4T>C rs1743223579
NM_003619.4(PRSS12):c.1918G>C (p.Gly640Arg)
NM_003619.4(PRSS12):c.195C>T (p.Phe65=) rs1671147684
NM_003619.4(PRSS12):c.1974G>T (p.Arg658Ser) rs371384574
NM_003619.4(PRSS12):c.19G>A (p.Val7Met) rs148007619
NM_003619.4(PRSS12):c.2040-1G>C rs780630558
NM_003619.4(PRSS12):c.2050A>G (p.Ser684Gly) rs369577707
NM_003619.4(PRSS12):c.2173T>C (p.Tyr725His) rs558433873
NM_003619.4(PRSS12):c.2268_2274delinsAC (p.Arg757fs)
NM_003619.4(PRSS12):c.235G>C (p.Ala79Pro) rs767822958
NM_003619.4(PRSS12):c.254C>A (p.Thr85Lys) rs1724538705
NM_003619.4(PRSS12):c.274G>C (p.Gly92Arg) rs1191488477
NM_003619.4(PRSS12):c.359A>C (p.Glu120Ala)
NM_003619.4(PRSS12):c.365C>T (p.Ser122Leu) rs755655664
NM_003619.4(PRSS12):c.524G>A (p.Gly175Asp) rs72677056
NM_003619.4(PRSS12):c.874C>T (p.Arg292Trp)
NM_003619.4(PRSS12):c.916G>A (p.Asp306Asn) rs1723924890
NM_003619.4(PRSS12):c.918T>G (p.Asp306Glu) rs1723924725

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