ClinVar Miner

List of variants in gene combination PRSS1, TRB reported as likely benign by Ambry Genetics

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Gene type:
ClinVar version:
Total variants: 150
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HGVS dbSNP gnomAD frequency
NM_002769.5(PRSS1):c.567T>C (p.Leu189=) rs377124851 0.00444
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.621T>C (p.Asn207=) rs146995038 0.00020
NM_002769.5(PRSS1):c.453C>T (p.Gly151=) rs147765409 0.00018
NM_002769.5(PRSS1):c.642C>A (p.Val214=) rs141697925 0.00015
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.132C>G (p.Gly44=) rs761068371 0.00006
NM_002769.5(PRSS1):c.674A>G (p.Lys225Arg) rs541223359 0.00006
NM_002769.5(PRSS1):c.75T>C (p.Val25=) rs1249340827 0.00006
NM_002769.5(PRSS1):c.366C>T (p.Arg122=) rs201487096 0.00005
NM_002769.5(PRSS1):c.291C>G (p.Pro97=) rs200763933 0.00004
NM_002769.5(PRSS1):c.456C>T (p.Ala152=) rs777261723 0.00004
NM_002769.5(PRSS1):c.457G>A (p.Asp153Asn) rs61735002 0.00003
NM_002769.5(PRSS1):c.615C>T (p.Val205=) rs771252966 0.00003
NM_002769.5(PRSS1):c.240C>T (p.Val80=) rs772622287 0.00002
NM_002769.5(PRSS1):c.292C>A (p.Gln98Lys) rs750348889 0.00002
NM_002769.5(PRSS1):c.297C>T (p.Tyr99=) rs373659879 0.00002
NM_002769.5(PRSS1):c.645C>T (p.Ser215=) rs764659707 0.00002
NM_002769.5(PRSS1):c.681A>G (p.Gly227=) rs780015944 0.00002
NM_002769.5(PRSS1):c.234C>T (p.Ile78=) rs200801370 0.00001
NM_002769.5(PRSS1):c.462C>T (p.Tyr154=) rs763292560 0.00001
NM_002769.5(PRSS1):c.570G>A (p.Glu190=) rs766441257 0.00001
NM_002769.5(PRSS1):c.721A>G (p.Asn241Asp) rs141554682 0.00001
NM_002769.5(PRSS1):c.81C>T (p.Gly27=) rs1403836546 0.00001
NM_002769.5(PRSS1):c.93G>A (p.Glu31=) rs745623963 0.00001
NM_002769.5(PRSS1):c.105C>G (p.Val35=)
NM_002769.5(PRSS1):c.108C>T (p.Pro36=)
NM_002769.5(PRSS1):c.114G>A (p.Gln38=)
NM_002769.5(PRSS1):c.120C>T (p.Ser40=)
NM_002769.5(PRSS1):c.123G>A (p.Leu41=)
NM_002769.5(PRSS1):c.123G>C (p.Leu41=)
NM_002769.5(PRSS1):c.129T>C (p.Ser43=)
NM_002769.5(PRSS1):c.12C>A (p.Leu4=)
NM_002769.5(PRSS1):c.132C>A (p.Gly44=)
NM_002769.5(PRSS1):c.13C>T (p.Leu5=)
NM_002769.5(PRSS1):c.141C>T (p.Phe47=)
NM_002769.5(PRSS1):c.144T>C (p.Cys48=)
NM_002769.5(PRSS1):c.150C>T (p.Gly50=)
NM_002769.5(PRSS1):c.156C>T (p.Leu52=)
NM_002769.5(PRSS1):c.15G>C (p.Leu5=)
NM_002769.5(PRSS1):c.161A>G (p.Asn54Ser) rs144422014
NM_002769.5(PRSS1):c.162C>T (p.Asn54=) rs148440491
NM_002769.5(PRSS1):c.177A>G (p.Val59=)
NM_002769.5(PRSS1):c.186C>A (p.Gly62=)
NM_002769.5(PRSS1):c.186C>T (p.Gly62=)
NM_002769.5(PRSS1):c.192C>T (p.Cys64=)
NM_002769.5(PRSS1):c.217C>T (p.Leu73=)
NM_002769.5(PRSS1):c.222A>C (p.Gly74=)
NM_002769.5(PRSS1):c.225G>A (p.Glu75=)
NM_002769.5(PRSS1):c.22A>G (p.Thr8Ala)
NM_002769.5(PRSS1):c.231C>T (p.Asn77=)
NM_002769.5(PRSS1):c.246G>A (p.Glu82=)
NM_002769.5(PRSS1):c.249G>C (p.Gly83=)
NM_002769.5(PRSS1):c.24C>A (p.Thr8=)
NM_002769.5(PRSS1):c.24C>G (p.Thr8=)
NM_002769.5(PRSS1):c.252T>C (p.Asn84=)
NM_002769.5(PRSS1):c.261C>T (p.Phe87=)
NM_002769.5(PRSS1):c.267T>C (p.Asn89=) rs779618969
NM_002769.5(PRSS1):c.270A>G (p.Ala90=) rs371037592
NM_002769.5(PRSS1):c.27T>C (p.Phe9=)
NM_002769.5(PRSS1):c.285C>T (p.Arg95=)
NM_002769.5(PRSS1):c.288C>T (p.His96=) rs1209409723
NM_002769.5(PRSS1):c.291C>A (p.Pro97=)
NM_002769.5(PRSS1):c.291C>T (p.Pro97=)
NM_002769.5(PRSS1):c.294A>G (p.Gln98=)
NM_002769.5(PRSS1):c.298G>A (p.Asp100Asn)
NM_002769.5(PRSS1):c.300C>T (p.Asp100=) rs753600288
NM_002769.5(PRSS1):c.303G>A (p.Arg101=)
NM_002769.5(PRSS1):c.30G>T (p.Val10=)
NM_002769.5(PRSS1):c.321C>T (p.Asp107=)
NM_002769.5(PRSS1):c.32C>G (p.Ala11Gly)
NM_002769.5(PRSS1):c.330A>G (p.Leu110=)
NM_002769.5(PRSS1):c.339C>T (p.Leu113=)
NM_002769.5(PRSS1):c.345A>G (p.Ser115=)
NM_002769.5(PRSS1):c.348T>G (p.Arg116=)
NM_002769.5(PRSS1):c.351A>C (p.Ala117=) rs606231346
NM_002769.5(PRSS1):c.354A>C (p.Val118=) rs606231347
NM_002769.5(PRSS1):c.357C>A (p.Ile119=)
NM_002769.5(PRSS1):c.360C>T (p.Asn120=) rs606231348
NM_002769.5(PRSS1):c.363C>T (p.Ala121=)
NM_002769.5(PRSS1):c.366C>A (p.Arg122=)
NM_002769.5(PRSS1):c.366C>G (p.Arg122=)
NM_002769.5(PRSS1):c.372C>T (p.Ser124=)
NM_002769.5(PRSS1):c.378C>A (p.Ile126=)
NM_002769.5(PRSS1):c.378C>T (p.Ile126=)
NM_002769.5(PRSS1):c.390C>A (p.Thr130=)
NM_002769.5(PRSS1):c.390C>G (p.Thr130=)
NM_002769.5(PRSS1):c.402C>T (p.Ala134=)
NM_002769.5(PRSS1):c.403A>G (p.Thr135Ala)
NM_002769.5(PRSS1):c.408C>A (p.Gly136=) rs1585986936
NM_002769.5(PRSS1):c.40C>G (p.Leu14Val) rs747228052
NM_002769.5(PRSS1):c.411G>A (p.Thr137=) rs369013081
NM_002769.5(PRSS1):c.411G>C (p.Thr137=)
NM_002769.5(PRSS1):c.411G>T (p.Thr137=)
NM_002769.5(PRSS1):c.412A>G (p.Lys138Glu)
NM_002769.5(PRSS1):c.414G>A (p.Lys138=) rs749482440
NM_002769.5(PRSS1):c.438C>T (p.Asn146=)
NM_002769.5(PRSS1):c.441T>G (p.Thr147=)
NM_002769.5(PRSS1):c.444G>A (p.Ala148=) rs11553844
NM_002769.5(PRSS1):c.447C>T (p.Ser149=) rs372698855
NM_002769.5(PRSS1):c.453C>A (p.Gly151=)
NM_002769.5(PRSS1):c.45T>A (p.Ala15=)
NM_002769.5(PRSS1):c.468C>T (p.Asp156=) rs146076691
NM_002769.5(PRSS1):c.471G>A (p.Glu157=)
NM_002769.5(PRSS1):c.472C>T (p.Leu158=)
NM_002769.5(PRSS1):c.474G>A (p.Leu158=)
NM_002769.5(PRSS1):c.480C>T (p.Cys160=)
NM_002769.5(PRSS1):c.483G>A (p.Leu161=)
NM_002769.5(PRSS1):c.48C>T (p.Ala16=) rs1585978487
NM_002769.5(PRSS1):c.492T>A (p.Pro164=)
NM_002769.5(PRSS1):c.510G>A (p.Lys170=) rs750427023
NM_002769.5(PRSS1):c.519C>T (p.Ala173=)
NM_002769.5(PRSS1):c.51C>A (p.Pro17=)
NM_002769.5(PRSS1):c.522C>T (p.Ser174=)
NM_002769.5(PRSS1):c.525C>T (p.Tyr175=)
NM_002769.5(PRSS1):c.531A>G (p.Gly177=)
NM_002769.5(PRSS1):c.534G>A (p.Lys178=) rs267601347
NM_002769.5(PRSS1):c.540C>A (p.Thr180=)
NM_002769.5(PRSS1):c.579G>A (p.Lys193=) rs1457186819
NM_002769.5(PRSS1):c.597T>C (p.Asp199=)
NM_002769.5(PRSS1):c.609T>A (p.Pro203=)
NM_002769.5(PRSS1):c.612G>A (p.Val204=)
NM_002769.5(PRSS1):c.627G>A (p.Gln209=)
NM_002769.5(PRSS1):c.633A>G (p.Gln211=)
NM_002769.5(PRSS1):c.651_652delinsCT (p.Asp218Tyr) rs1554499629
NM_002769.5(PRSS1):c.652G>T (p.Asp218Tyr) rs574391339
NM_002769.5(PRSS1):c.654T>C (p.Asp218=)
NM_002769.5(PRSS1):c.657C>A (p.Gly219=)
NM_002769.5(PRSS1):c.657C>G (p.Gly219=)
NM_002769.5(PRSS1):c.666G>A (p.Gln222=)
NM_002769.5(PRSS1):c.669G>A (p.Lys223=)
NM_002769.5(PRSS1):c.681A>C (p.Gly227=) rs780015944
NM_002769.5(PRSS1):c.687C>T (p.Tyr229=)
NM_002769.5(PRSS1):c.693G>A (p.Lys231=)
NM_002769.5(PRSS1):c.698A>G (p.Tyr233Cys)
NM_002769.5(PRSS1):c.69G>A (p.Lys23=)
NM_002769.5(PRSS1):c.705T>C (p.Tyr235=)
NM_002769.5(PRSS1):c.708G>A (p.Val236=)
NM_002769.5(PRSS1):c.711A>G (p.Lys237=)
NM_002769.5(PRSS1):c.726C>G (p.Thr242=)
NM_002769.5(PRSS1):c.72C>A (p.Ile24=)
NM_002769.5(PRSS1):c.735C>T (p.Ala245=)
NM_002769.5(PRSS1):c.84C>T (p.Tyr28=)
NM_002769.5(PRSS1):c.87C>T (p.Asn29=) rs747010881

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