ClinVar Miner

List of variants reported as likely benign for Hereditary pancreatitis by Labcorp Genetics (formerly Invitae), Labcorp

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ClinVar version:
Total variants: 223
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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.121C>T (p.Leu41=) rs369646357 0.00034
NM_007272.3(CTRC):c.110G>A (p.Arg37Gln) rs145868278 0.00032
NM_007272.3(CTRC):c.231-15C>G rs1298564824 0.00029
NM_007272.3(CTRC):c.540G>T (p.Val180=) rs371479067 0.00021
NM_002769.5(PRSS1):c.621T>C (p.Asn207=) rs146995038 0.00020
NM_007272.3(CTRC):c.216C>T (p.Ala72=) rs140059353 0.00019
NM_007272.3(CTRC):c.27G>A (p.Ala9=) rs374821228 0.00016
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_007272.3(CTRC):c.747G>A (p.Pro249=) rs150078209 0.00012
NM_001379610.1(SPINK1):c.192T>C (p.Asn64=) rs765307896 0.00011
NM_002769.5(PRSS1):c.243G>C (p.Leu81=) rs142476093 0.00011
NM_007272.3(CTRC):c.550G>A (p.Ala184Thr) rs761546594 0.00009
NM_007272.3(CTRC):c.792+12C>A rs371799801 0.00009
NM_007272.3(CTRC):c.40+10G>A rs564455614 0.00008
NM_007272.3(CTRC):c.356+17C>G rs376786664 0.00007
NM_007272.3(CTRC):c.531G>A (p.Leu177=) rs751747891 0.00007
NM_001379610.1(SPINK1):c.110A>G (p.Asn37Ser) rs200142833 0.00006
NM_002769.5(PRSS1):c.132C>G (p.Gly44=) rs761068371 0.00006
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_007272.3(CTRC):c.41-5C>A rs781284605 0.00006
NM_007272.3(CTRC):c.678C>T (p.Asn226=) rs777608312 0.00006
NM_002769.5(PRSS1):c.366C>T (p.Arg122=) rs201487096 0.00005
NM_001379610.1(SPINK1):c.111T>C (p.Asn37=) rs769216699 0.00004
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_007272.3(CTRC):c.549C>T (p.His183=) rs554399153 0.00004
NM_007272.3(CTRC):c.640-13C>T rs368477746 0.00004
NM_007272.3(CTRC):c.81C>T (p.Ser27=) rs749455108 0.00004
NM_001379610.1(SPINK1):c.56-15C>T rs1172632130 0.00003
NM_002769.5(PRSS1):c.200+10G>T rs200217253 0.00003
NM_002769.5(PRSS1):c.200+18G>A rs778658500 0.00003
NM_002769.5(PRSS1):c.615C>T (p.Val205=) rs771252966 0.00003
NM_007272.3(CTRC):c.174G>A (p.Thr58=) rs746721892 0.00003
NM_007272.3(CTRC):c.69G>A (p.Pro23=) rs756394210 0.00003
NM_007272.3(CTRC):c.84C>T (p.Ala28=) rs779009847 0.00003
NM_002769.5(PRSS1):c.240C>T (p.Val80=) rs772622287 0.00002
NM_002769.5(PRSS1):c.297C>T (p.Tyr99=) rs373659879 0.00002
NM_002769.5(PRSS1):c.454+19C>A rs1414385892 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_007272.3(CTRC):c.133-19C>G rs777418401 0.00002
NM_007272.3(CTRC):c.493+10G>A rs766857870 0.00002
NM_007272.3(CTRC):c.493+13C>G rs754270976 0.00002
NM_007272.3(CTRC):c.494-13A>G rs762842599 0.00002
NM_007272.3(CTRC):c.768C>T (p.Ser256=) rs778166573 0.00002
NM_001379610.1(SPINK1):c.177G>A (p.Val59=) rs750670272 0.00001
NM_001379610.1(SPINK1):c.194+15G>C rs371154048 0.00001
NM_001379610.1(SPINK1):c.55+12A>G rs779623718 0.00001
NM_001379610.1(SPINK1):c.72C>T (p.Asp24=) rs1422602705 0.00001
NM_002769.5(PRSS1):c.138C>T (p.His46=) rs929867235 0.00001
NM_002769.5(PRSS1):c.200+8T>C rs886038518 0.00001
NM_002769.5(PRSS1):c.200+9G>A rs1390484900 0.00001
NM_002769.5(PRSS1):c.234C>T (p.Ile78=) rs200801370 0.00001
NM_002769.5(PRSS1):c.342C>T (p.Ser114=) rs776924834 0.00001
NM_002769.5(PRSS1):c.375C>A (p.Thr125=) rs1798775403 0.00001
NM_002769.5(PRSS1):c.384G>A (p.Leu128=) rs549140095 0.00001
NM_002769.5(PRSS1):c.40+18C>A rs753283798 0.00001
NM_002769.5(PRSS1):c.41-9C>G rs1268009079 0.00001
NM_002769.5(PRSS1):c.454+7G>A rs755175379 0.00001
NM_002769.5(PRSS1):c.462C>T (p.Tyr154=) rs763292560 0.00001
NM_002769.5(PRSS1):c.561C>T (p.Gly187=) rs1804561 0.00001
NM_002769.5(PRSS1):c.570G>A (p.Glu190=) rs766441257 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_007272.3(CTRC):c.15T>C (p.Thr5=) rs1060504817 0.00001
NM_007272.3(CTRC):c.210C>A (p.Leu70=) rs766739002 0.00001
NM_007272.3(CTRC):c.230+7G>A rs754126755 0.00001
NM_007272.3(CTRC):c.352T>C (p.Leu118=) rs557582431 0.00001
NM_007272.3(CTRC):c.369C>T (p.Ala123=) rs749606141 0.00001
NM_007272.3(CTRC):c.40+12G>C rs781396039 0.00001
NM_007272.3(CTRC):c.40+18G>A rs1708076823 0.00001
NM_007272.3(CTRC):c.40+7G>A rs369827801 0.00001
NM_007272.3(CTRC):c.41-6C>T rs372788092 0.00001
NM_007272.3(CTRC):c.462C>T (p.Pro154=) rs776457510 0.00001
NM_007272.3(CTRC):c.474C>T (p.Thr158=) rs759334187 0.00001
NM_007272.3(CTRC):c.493+9C>T rs199736095 0.00001
NM_007272.3(CTRC):c.595A>T (p.Thr199Ser) rs751977111 0.00001
NM_007272.3(CTRC):c.606C>T (p.Cys202=) rs543348635 0.00001
NM_007272.3(CTRC):c.777C>T (p.Ile259=) rs947267758 0.00001
NM_007272.3(CTRC):c.789C>T (p.Asn263=) rs762952174 0.00001
NM_001379610.1(SPINK1):c.114A>G (p.Gly38=) rs1561605325
NM_001379610.1(SPINK1):c.162T>C (p.Tyr54=)
NM_001379610.1(SPINK1):c.186T>C (p.Phe62=)
NM_001379610.1(SPINK1):c.194+19T>G
NM_001379610.1(SPINK1):c.204G>A (p.Gln68=)
NM_001379610.1(SPINK1):c.210T>C (p.Ser70=)
NM_001379610.1(SPINK1):c.216C>T (p.Leu72=)
NM_001379610.1(SPINK1):c.55+11C>A
NM_001379610.1(SPINK1):c.56-19A>G
NM_001379610.1(SPINK1):c.75C>G (p.Ser25=)
NM_001379610.1(SPINK1):c.87+10T>C rs955053963
NM_001379610.1(SPINK1):c.87+18A>G
NM_001379610.1(SPINK1):c.87+7A>G rs1756473313
NM_001379610.1(SPINK1):c.87+7A>T rs1756473313
NM_001379610.1(SPINK1):c.88-10C>T
NM_001379610.1(SPINK1):c.88-20C>A
NM_002769.5(PRSS1):c.129T>C (p.Ser43=)
NM_002769.5(PRSS1):c.153C>T (p.Ser51=) rs1554498506
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>T (p.Gly62=)
NM_002769.5(PRSS1):c.195C>T (p.Tyr65=) rs2116960834
NM_002769.5(PRSS1):c.200+17C>T rs200688125
NM_002769.5(PRSS1):c.200+17_200+18delinsGA rs2116961269
NM_002769.5(PRSS1):c.200+20C>T rs1585979340
NM_002769.5(PRSS1):c.200+7G>A rs374455072
NM_002769.5(PRSS1):c.201-12C>T
NM_002769.5(PRSS1):c.201-16C>G
NM_002769.5(PRSS1):c.201-8C>T rs1397404221
NM_002769.5(PRSS1):c.252T>C (p.Asn84=)
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.285C>A (p.Arg95=)
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>T (p.Pro97=)
NM_002769.5(PRSS1):c.300C>T (p.Asp100=) rs753600288
NM_002769.5(PRSS1):c.312G>C (p.Leu104=)
NM_002769.5(PRSS1):c.328T>C (p.Leu110=)
NM_002769.5(PRSS1):c.330A>G (p.Leu110=)
NM_002769.5(PRSS1):c.360C>T (p.Asn120=) rs606231348
NM_002769.5(PRSS1):c.372C>G (p.Ser124=)
NM_002769.5(PRSS1):c.40+13C>A
NM_002769.5(PRSS1):c.40+15C>G
NM_002769.5(PRSS1):c.40+15C>T rs760370254
NM_002769.5(PRSS1):c.40+16T>C rs2116945673
NM_002769.5(PRSS1):c.40+40del rs748794481
NM_002769.5(PRSS1):c.408C>A (p.Gly136=) rs1585986936
NM_002769.5(PRSS1):c.41-14C>A
NM_002769.5(PRSS1):c.41-14C>T rs757743939
NM_002769.5(PRSS1):c.411G>A (p.Thr137=) rs369013081
NM_002769.5(PRSS1):c.411G>C (p.Thr137=)
NM_002769.5(PRSS1):c.414G>A (p.Lys138=) rs749482440
NM_002769.5(PRSS1):c.420C>T (p.Leu140=)
NM_002769.5(PRSS1):c.426T>C (p.Ser142=)
NM_002769.5(PRSS1):c.444G>A (p.Ala148=) rs11553844
NM_002769.5(PRSS1):c.454+157C>G rs371236770
NM_002769.5(PRSS1):c.454+16A>G
NM_002769.5(PRSS1):c.454+36T>C
NM_002769.5(PRSS1):c.454+75A>G rs1376416883
NM_002769.5(PRSS1):c.474G>A (p.Leu158=)
NM_002769.5(PRSS1):c.498G>A (p.Leu166=)
NM_002769.5(PRSS1):c.498G>C (p.Leu166=)
NM_002769.5(PRSS1):c.504G>A (p.Gln168=)
NM_002769.5(PRSS1):c.510G>A (p.Lys170=) rs750427023
NM_002769.5(PRSS1):c.51C>A (p.Pro17=)
NM_002769.5(PRSS1):c.522C>T (p.Ser174=)
NM_002769.5(PRSS1):c.534G>A (p.Lys178=) rs267601347
NM_002769.5(PRSS1):c.540C>T (p.Thr180=) rs769319141
NM_002769.5(PRSS1):c.579G>A (p.Lys193=) rs1457186819
NM_002769.5(PRSS1):c.591+9A>C rs755746222
NM_002769.5(PRSS1):c.592-14C>G
NM_002769.5(PRSS1):c.592-17T>G
NM_002769.5(PRSS1):c.592-4C>T
NM_002769.5(PRSS1):c.592-7C>T rs1443925968
NM_002769.5(PRSS1):c.60T>C (p.Asp20=) rs1585978558
NM_002769.5(PRSS1):c.612G>A (p.Val204=)
NM_002769.5(PRSS1):c.630C>T (p.Leu210=)
NM_002769.5(PRSS1):c.651T>C (p.Gly217=) rs562372415
NM_002769.5(PRSS1):c.672C>T (p.Asn224=)
NM_002769.5(PRSS1):c.681A>C (p.Gly227=) rs780015944
NM_002769.5(PRSS1):c.693G>A (p.Lys231=)
NM_002769.5(PRSS1):c.699C>T (p.Tyr233=) rs2116990190
NM_002769.5(PRSS1):c.705T>C (p.Tyr235=)
NM_002769.5(PRSS1):c.726C>G (p.Thr242=)
NM_002769.5(PRSS1):c.743A>G (p.Ter248=) rs1798883437
NM_002769.5(PRSS1):c.75T>G (p.Val25=)
NM_002769.5(PRSS1):c.87C>T (p.Asn29=) rs747010881
NM_002769.5(PRSS1):c.9A>G (p.Pro3=) rs2116945188
NM_007272.3(CTRC):c.132+15G>A
NM_007272.3(CTRC):c.132+16G>C
NM_007272.3(CTRC):c.132+16G>T
NM_007272.3(CTRC):c.132+20G>A
NM_007272.3(CTRC):c.133-15C>T
NM_007272.3(CTRC):c.133-18C>T
NM_007272.3(CTRC):c.150C>G (p.Leu50=)
NM_007272.3(CTRC):c.162G>A (p.Thr54=)
NM_007272.3(CTRC):c.162G>C (p.Thr54=) rs756090858
NM_007272.3(CTRC):c.162G>T (p.Thr54=)
NM_007272.3(CTRC):c.204C>T (p.Phe68=)
NM_007272.3(CTRC):c.21C>T (p.Leu7=) rs1279354220
NM_007272.3(CTRC):c.230+17C>G
NM_007272.3(CTRC):c.231-11C>A
NM_007272.3(CTRC):c.231-17C>T
NM_007272.3(CTRC):c.231-4C>A
NM_007272.3(CTRC):c.270C>T (p.Asn90=)
NM_007272.3(CTRC):c.279G>A (p.Val93=)
NM_007272.3(CTRC):c.356+17C>T
NM_007272.3(CTRC):c.369C>G (p.Ala123=)
NM_007272.3(CTRC):c.40+14T>C
NM_007272.3(CTRC):c.40+20T>G
NM_007272.3(CTRC):c.41-11T>C
NM_007272.3(CTRC):c.41-19T>C
NM_007272.3(CTRC):c.41-3dup
NM_007272.3(CTRC):c.423C>T (p.Cys141=)
NM_007272.3(CTRC):c.459C>T (p.Tyr153=)
NM_007272.3(CTRC):c.477C>T (p.Gly159=)
NM_007272.3(CTRC):c.493+16G>A
NM_007272.3(CTRC):c.494-10C>T
NM_007272.3(CTRC):c.494-19C>G
NM_007272.3(CTRC):c.528C>T (p.Gly176=)
NM_007272.3(CTRC):c.537C>G (p.Pro179=)
NM_007272.3(CTRC):c.552C>G (p.Ala184=) rs888159659
NM_007272.3(CTRC):c.585G>A (p.Arg195=)
NM_007272.3(CTRC):c.639+13G>A
NM_007272.3(CTRC):c.640-11G>T
NM_007272.3(CTRC):c.640-6G>A
NM_007272.3(CTRC):c.642G>A (p.Gly214=) rs1265655451
NM_007272.3(CTRC):c.660G>A (p.Leu220=)
NM_007272.3(CTRC):c.672G>A (p.Leu224=) rs2103293066
NM_007272.3(CTRC):c.675G>A (p.Glu225=)
NM_007272.3(CTRC):c.681T>A (p.Gly227=) rs1389820334
NM_007272.3(CTRC):c.702C>T (p.Ile234=)
NM_007272.3(CTRC):c.737G>T (p.Arg246Leu) rs147925927
NM_007272.3(CTRC):c.765G>A (p.Val255=) rs1570786781
NM_007272.3(CTRC):c.788A>G (p.Asn263Ser) rs769975164
NM_007272.3(CTRC):c.792+10G>A rs1301778392
NM_007272.3(CTRC):c.792+13T>A
NM_007272.3(CTRC):c.792+19G>A

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