ClinVar Miner

List of variants in gene combination PRSS1, TRB reported by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

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Gene type:
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Total variants: 47
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HGVS dbSNP gnomAD frequency
NM_002769.5(PRSS1):c.738T>C (p.Asn246=) rs6667 0.53816
NM_002769.5(PRSS1):c.40+34C>T rs202051517 0.00687
NM_002769.5(PRSS1):c.200+23C>T rs112426474 0.00622
NM_002769.5(PRSS1):c.279C>T (p.Ile93=) rs139664510 0.00489
NM_002769.5(PRSS1):c.567T>C (p.Leu189=) rs377124851 0.00444
NM_002769.5(PRSS1):c.592-24C>T rs192452846 0.00354
NM_002769.5(PRSS1):c.592-11C>T rs183791770 0.00131
NM_002769.5(PRSS1):c.592-8C>T rs200381474 0.00131
NM_002769.5(PRSS1):c.40+10A>G rs199613498 0.00066
NM_002769.5(PRSS1):c.121C>T (p.Leu41=) rs369646357 0.00034
NM_002769.5(PRSS1):c.417C>T (p.Cys139=) rs141847266 0.00032
NM_002769.5(PRSS1):c.410C>T (p.Thr137Met) rs117497341 0.00024
NM_002769.5(PRSS1):c.623G>C (p.Gly208Ala) rs189270875 0.00024
NM_002769.5(PRSS1):c.621T>C (p.Asn207=) rs146995038 0.00020
NM_002769.5(PRSS1):c.453C>T (p.Gly151=) rs147765409 0.00018
NM_002769.5(PRSS1):c.40+13C>T rs368872847 0.00016
NM_002769.5(PRSS1):c.390C>T (p.Thr130=) rs561097415 0.00012
NM_002769.5(PRSS1):c.243G>C (p.Leu81=) rs142476093 0.00011
NM_002769.5(PRSS1):c.235G>A (p.Glu79Lys) rs111033564 0.00010
NM_002769.5(PRSS1):c.47C>T (p.Ala16Val) rs202003805 0.00009
NM_002769.5(PRSS1):c.508A>G (p.Lys170Glu) rs201550522 0.00006
NM_002769.5(PRSS1):c.591+8G>C rs371601976 0.00006
NM_002769.5(PRSS1):c.75T>C (p.Val25=) rs1249340827 0.00006
NM_002769.5(PRSS1):c.291C>G (p.Pro97=) rs200763933 0.00004
NM_002769.5(PRSS1):c.364C>G (p.Arg122Gly) rs111033568 0.00003
NM_002769.5(PRSS1):c.200C>T (p.Ser67Phe) rs765342413 0.00002
NM_002769.5(PRSS1):c.364C>T (p.Arg122Cys) rs111033568 0.00002
NM_002769.5(PRSS1):c.200+8T>C rs886038518 0.00001
NM_002769.5(PRSS1):c.201-37G>T rs774875799 0.00001
NM_002769.5(PRSS1):c.365G>A (p.Arg122His) rs111033565 0.00001
NM_002769.5(PRSS1):c.561C>T (p.Gly187=) rs1804561 0.00001
NM_002769.5(PRSS1):c.93G>A (p.Glu31=) rs745623963 0.00001
NM_002769.5(PRSS1):c.162C>T (p.Asn54=) rs148440491
NM_002769.5(PRSS1):c.200+1G>A rs143909348
NM_002769.5(PRSS1):c.311T>C (p.Leu104Pro) rs1554499091
NM_002769.5(PRSS1):c.346C>T (p.Arg116Cys) rs387906698
NM_002769.5(PRSS1):c.360C>T (p.Asn120=) rs606231348
NM_002769.5(PRSS1):c.40+15C>T rs760370254
NM_002769.5(PRSS1):c.40+36C>G rs200529674
NM_002769.5(PRSS1):c.40+40C>T rs200159984
NM_002769.5(PRSS1):c.40+40del rs748794481
NM_002769.5(PRSS1):c.416G>T (p.Cys139Phe) rs768853338
NM_002769.5(PRSS1):c.486T>C (p.Asp162=) rs6666
NM_002769.5(PRSS1):c.50C>T (p.Pro17Leu) rs776401461
NM_002769.5(PRSS1):c.592-2A>C rs1585991476
NM_002769.5(PRSS1):c.592-8C>A rs200381474
NM_002769.5(PRSS1):c.86A>T (p.Asn29Ile) rs111033566

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