ClinVar Miner

List of variants reported as uncertain significance for Hereditary pancreatitis by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 24
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_007272.3(CTRC):c.251T>C (p.Val84Ala) rs200369419 0.00028
NM_002769.5(PRSS1):c.623G>C (p.Gly208Ala) rs189270875 0.00024
NM_007272.3(CTRC):c.703G>A (p.Val235Ile) rs140993290 0.00024
NM_007272.3(CTRC):c.674A>C (p.Glu225Ala) rs201486613 0.00020
NM_000492.4(CFTR):c.1163C>T (p.Thr388Met) rs143860237 0.00011
NM_007272.3(CTRC):c.533A>G (p.Gln178Arg) rs200678111 0.00009
NM_007272.3(CTRC):c.550G>A (p.Ala184Thr) rs761546594 0.00009
NM_002769.5(PRSS1):c.508A>G (p.Lys170Glu) rs201550522 0.00006
NM_007272.3(CTRC):c.52G>A (p.Gly18Arg) rs200576965 0.00005
NM_007272.3(CTRC):c.139C>T (p.Leu47Phe) rs769324644 0.00004
NM_007272.3(CTRC):c.356G>A (p.Arg119His) rs748221308 0.00004
NM_002769.5(PRSS1):c.364C>G (p.Arg122Gly) rs111033568 0.00003
NM_007272.3(CTRC):c.212C>T (p.Thr71Ile) rs560916216 0.00001
NM_007272.3(CTRC):c.26C>T (p.Ala9Val) rs772818172 0.00001
NM_007272.3(CTRC):c.595A>T (p.Thr199Ser) rs751977111 0.00001
NM_000492.4(CFTR):c.1052C>G (p.Thr351Ser) rs1800086
NM_002769.5(PRSS1):c.200+1G>A rs143909348
NM_007272.3(CTRC):c.-59C>T rs183658182
NM_007272.3(CTRC):c.13A>T (p.Thr5Ser)
NM_007272.3(CTRC):c.248G>A (p.Arg83His) rs781768384
NM_007272.3(CTRC):c.40+6C>T
NM_007272.3(CTRC):c.499G>C (p.Gly167Arg) rs141205711
NM_007272.3(CTRC):c.716C>T (p.Ser239Phe) rs1708205861
NM_007272.3(CTRC):c.737G>T (p.Arg246Leu) rs147925927

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.