ClinVar Miner

List of variants in gene SBDS studied for Shwachman-Diamond syndrome 1

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 40
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_016038.4(SBDS):c.201A>G (p.Lys67=) rs1061695 0.08712
NM_016038.4(SBDS):c.129-71G>A rs62466589 0.04156
NM_016038.4(SBDS):c.651C>T (p.Phe217=) rs73151675 0.03660
NM_016038.4(SBDS):c.635T>C (p.Ile212Thr) rs79344818 0.02573
NM_016038.4(SBDS):c.258+19A>G rs186000847 0.01143
NM_016038.4(SBDS):c.141C>T (p.Leu47=) rs113993989 0.00747
NM_016038.4(SBDS):c.258+2T>C rs113993993 0.00323
NM_016038.4(SBDS):c.184A>T (p.Lys62Ter) rs120074160 0.00099
NM_016038.4(SBDS):c.388G>A (p.Val130Met) rs201070132 0.00009
NM_016038.4(SBDS):c.173T>C (p.Val58Ala) rs747222022 0.00002
NM_016038.4(SBDS):c.258+1G>C rs113993992 0.00002
NM_016038.4(SBDS):c.13del (p.Thr5fs) rs772797192 0.00001
NM_016038.4(SBDS):c.377G>C (p.Arg126Thr) rs113993995 0.00001
NM_016038.4(SBDS):c.505C>T (p.Arg169Cys) rs113993996 0.00001
NM_016038.4(SBDS):c.523C>T (p.Arg175Trp) rs774976459 0.00001
NM_016038.4(SBDS):c.652C>T (p.Arg218Ter) rs113993998 0.00001
NC_000007.14:g.66971410_66990307del
NM_016038.2(SBDS):c.625-1delG rs1792914342
NM_016038.4(SBDS):c.101dup (p.Asn34fs)
NM_016038.4(SBDS):c.120del (p.Ser41fs) rs113993990
NM_016038.4(SBDS):c.128+3G>C
NM_016038.4(SBDS):c.131A>G (p.Glu44Gly) rs1554341516
NM_016038.4(SBDS):c.167T>C (p.Val56Ala) rs1584437592
NM_016038.4(SBDS):c.183_184delinsCT (p.Lys62Ter) rs113993991
NM_016038.4(SBDS):c.18del (p.Thr7fs) rs1584439050
NM_016038.4(SBDS):c.199A>G (p.Lys67Glu) rs1554341499
NM_016038.4(SBDS):c.24C>A (p.Asn8Lys) rs28942099
NM_016038.4(SBDS):c.258+347_459+223del
NM_016038.4(SBDS):c.260T>G (p.Ile87Ser) rs1554341363
NM_016038.4(SBDS):c.297_300del (p.Glu99fs) rs113993994
NM_016038.4(SBDS):c.305_308del (p.Thr102fs) rs745661722
NM_016038.4(SBDS):c.326G>C (p.Arg109Thr) rs2129232269
NM_016038.4(SBDS):c.452_453dup (p.Gln152fs) rs1411636529
NM_016038.4(SBDS):c.460-1G>A rs1792969582
NM_016038.4(SBDS):c.478C>T (p.Gln160Ter)
NM_016038.4(SBDS):c.541A>G (p.Asn181Asp)
NM_016038.4(SBDS):c.624+1G>C rs113993997
NM_016038.4(SBDS):c.629G>A (p.Cys210Tyr) rs2129231218
NM_016038.4(SBDS):c.653G>A (p.Arg218Gln) rs757497272
NM_016038.4(SBDS):c.98A>C (p.Lys33Thr) rs373730800

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.