ClinVar Miner

List of variants in gene SPINK1 reported as uncertain significance by Ambry Genetics

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 56
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_003122.5(SPINK1):c.-147A>G rs779832256 0.00075
NM_001379610.1(SPINK1):c.194G>A (p.Arg65Gln) rs141634296 0.00055
NM_001379610.1(SPINK1):c.-53C>T rs367798627 0.00019
NM_003122.5(SPINK1):c.-142T>C rs755968566 0.00016
NM_001379610.1(SPINK1):c.208T>A (p.Ser70Thr) rs373011963 0.00006
NM_001379610.1(SPINK1):c.126A>G (p.Ile42Met) rs370266754 0.00004
NM_001379610.1(SPINK1):c.203A>G (p.Gln68Arg) rs760077990 0.00004
NM_001379610.1(SPINK1):c.109A>C (p.Asn37His) rs761739859 0.00001
NM_001379610.1(SPINK1):c.136G>C (p.Val46Leu) rs772387015 0.00001
NM_001379610.1(SPINK1):c.175G>A (p.Val59Met) rs781162491 0.00001
NM_001379610.1(SPINK1):c.193C>T (p.Arg65Trp) rs536203389 0.00001
NM_001379610.1(SPINK1):c.199C>T (p.Arg67Cys) rs515726208 0.00001
NM_001379610.1(SPINK1):c.206C>T (p.Thr69Ile) rs576564400 0.00001
NM_001379610.1(SPINK1):c.224A>T (p.Lys75Ile) rs1163281900 0.00001
NM_001379610.1(SPINK1):c.82A>G (p.Arg28Gly) rs375368064 0.00001
NM_001379610.1(SPINK1):c.8T>C (p.Val3Ala) rs768306142 0.00001
NM_001379610.1(SPINK1):c.105A>T (p.Glu35Asp)
NM_001379610.1(SPINK1):c.107T>C (p.Leu36Pro)
NM_001379610.1(SPINK1):c.110A>T (p.Asn37Ile) rs200142833
NM_001379610.1(SPINK1):c.128A>G (p.Tyr43Cys) rs1561605311
NM_001379610.1(SPINK1):c.133C>A (p.Pro45Thr)
NM_001379610.1(SPINK1):c.137T>A (p.Val46Asp) rs1379675813
NM_001379610.1(SPINK1):c.155A>G (p.Asn52Ser)
NM_001379610.1(SPINK1):c.157A>G (p.Thr53Ala)
NM_001379610.1(SPINK1):c.172T>C (p.Cys58Arg)
NM_001379610.1(SPINK1):c.188A>G (p.Glu63Gly) rs1223176202
NM_001379610.1(SPINK1):c.19T>A (p.Phe7Ile)
NM_001379610.1(SPINK1):c.200G>T (p.Arg67Leu)
NM_001379610.1(SPINK1):c.212T>A (p.Ile71Asn)
NM_001379610.1(SPINK1):c.215T>C (p.Leu72Pro) rs749558779
NM_001379610.1(SPINK1):c.217A>T (p.Ile73Phe) rs982462613
NM_001379610.1(SPINK1):c.218T>C (p.Ile73Thr)
NM_001379610.1(SPINK1):c.227C>G (p.Ser76Cys)
NM_001379610.1(SPINK1):c.229G>C (p.Gly77Arg)
NM_001379610.1(SPINK1):c.232C>T (p.Pro78Ser)
NM_001379610.1(SPINK1):c.235T>G (p.Cys79Gly)
NM_001379610.1(SPINK1):c.236G>A (p.Cys79Tyr)
NM_001379610.1(SPINK1):c.237C>A (p.Cys79Ter)
NM_001379610.1(SPINK1):c.25C>G (p.Leu9Val)
NM_001379610.1(SPINK1):c.26T>C (p.Leu9Pro)
NM_001379610.1(SPINK1):c.30T>A (p.Ser10Arg)
NM_001379610.1(SPINK1):c.32C>T (p.Ala11Val)
NM_001379610.1(SPINK1):c.36_38delinsCGT (p.Leu12_Ala13delinsPheVal)
NM_001379610.1(SPINK1):c.40C>G (p.Leu14Val)
NM_001379610.1(SPINK1):c.47G>T (p.Ser16Ile)
NM_001379610.1(SPINK1):c.52T>C (p.Ser18Pro)
NM_001379610.1(SPINK1):c.56G>A (p.Gly19Asp)
NM_001379610.1(SPINK1):c.56G>C (p.Gly19Ala)
NM_001379610.1(SPINK1):c.65G>C (p.Gly22Ala)
NM_001379610.1(SPINK1):c.68C>T (p.Ala23Val)
NM_001379610.1(SPINK1):c.71A>C (p.Asp24Ala)
NM_001379610.1(SPINK1):c.7G>A (p.Val3Ile)
NM_001379610.1(SPINK1):c.80G>A (p.Gly27Glu) rs769727763
NM_001379610.1(SPINK1):c.83G>A (p.Arg28Lys)
NM_001379610.1(SPINK1):c.84A>T (p.Arg28Ser)
NM_001379610.1(SPINK1):c.92A>T (p.Lys31Ile)

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.