ClinVar Miner

List of variants in gene PRSS50 reported as uncertain significance for not specified

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Gene type:
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Total variants: 43
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HGVS dbSNP gnomAD frequency
NM_013270.5(PRSS50):c.773G>A (p.Arg258Gln) rs146386127 0.00042
NM_013270.5(PRSS50):c.577C>T (p.Arg193Trp) rs142097717 0.00021
NM_013270.5(PRSS50):c.689C>T (p.Thr230Met) rs139823108 0.00018
NM_013270.5(PRSS50):c.44G>A (p.Arg15Gln) rs372386834 0.00016
NM_013270.5(PRSS50):c.1121C>T (p.Ala374Val) rs368966860 0.00005
NM_013270.5(PRSS50):c.1124T>A (p.Leu375His) rs776259064 0.00005
NM_013270.5(PRSS50):c.260T>C (p.Met87Thr) rs762283632 0.00005
NM_013270.5(PRSS50):c.524C>T (p.Thr175Met) rs201477242 0.00005
NM_013270.5(PRSS50):c.890C>T (p.Ala297Val) rs138420412 0.00005
NM_013270.5(PRSS50):c.29G>C (p.Arg10Pro) rs1424445558 0.00003
NM_013270.5(PRSS50):c.716G>A (p.Arg239His) rs201489237 0.00003
NM_013270.5(PRSS50):c.962C>T (p.Thr321Met) rs376546957 0.00003
NM_013270.5(PRSS50):c.158C>T (p.Ala53Val) rs755675643 0.00002
NM_013270.5(PRSS50):c.251C>T (p.Ser84Leu) rs758775351 0.00002
NM_013270.5(PRSS50):c.352G>A (p.Glu118Lys) rs767703397 0.00002
NM_013270.5(PRSS50):c.143C>G (p.Ser48Cys) rs749277999 0.00001
NM_013270.5(PRSS50):c.185A>G (p.Lys62Arg) rs1366882612 0.00001
NM_013270.5(PRSS50):c.253A>G (p.Thr85Ala) rs750686955 0.00001
NM_013270.5(PRSS50):c.416C>T (p.Ala139Val) rs755043417 0.00001
NM_013270.5(PRSS50):c.883A>G (p.Met295Val) rs1372910442 0.00001
NM_013270.5(PRSS50):c.1012G>A (p.Glu338Lys)
NM_013270.5(PRSS50):c.1075G>A (p.Gly359Arg)
NM_013270.5(PRSS50):c.1078C>A (p.Gln360Lys)
NM_013270.5(PRSS50):c.230C>T (p.Pro77Leu)
NM_013270.5(PRSS50):c.298C>T (p.Pro100Ser)
NM_013270.5(PRSS50):c.365G>C (p.Arg122Pro) rs761616741
NM_013270.5(PRSS50):c.391C>T (p.Arg131Trp)
NM_013270.5(PRSS50):c.395C>A (p.Ala132Asp)
NM_013270.5(PRSS50):c.418G>A (p.Gly140Ser)
NM_013270.5(PRSS50):c.496G>C (p.Val166Leu)
NM_013270.5(PRSS50):c.50C>G (p.Ser17Cys)
NM_013270.5(PRSS50):c.528G>C (p.Gln176His)
NM_013270.5(PRSS50):c.611C>T (p.Ala204Val)
NM_013270.5(PRSS50):c.622G>A (p.Gly208Ser) rs1288828943
NM_013270.5(PRSS50):c.688A>G (p.Thr230Ala) rs2544843437
NM_013270.5(PRSS50):c.691G>A (p.Asp231Asn) rs1383113052
NM_013270.5(PRSS50):c.707A>C (p.Asp236Ala)
NM_013270.5(PRSS50):c.70G>A (p.Ala24Thr)
NM_013270.5(PRSS50):c.786G>C (p.Glu262Asp)
NM_013270.5(PRSS50):c.807C>G (p.Asn269Lys) rs2528778139
NM_013270.5(PRSS50):c.862C>G (p.Gln288Glu)
NM_013270.5(PRSS50):c.8G>T (p.Arg3Leu)
NM_013270.5(PRSS50):c.992G>A (p.Gly331Asp)

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