ClinVar Miner

List of variants in gene SBDS reported by Genetic Services Laboratory, University of Chicago

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Gene type:
ClinVar version:
Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_016038.4(SBDS):c.258+2T>C rs113993993 0.00323
NM_016038.4(SBDS):c.127G>T (p.Val43Leu) rs147652512 0.00096
NM_016038.4(SBDS):c.429G>A (p.Ser143=) rs146780418 0.00024
NM_016038.4(SBDS):c.357T>C (p.Cys119=) rs189441106 0.00022
NM_016038.4(SBDS):c.107T>C (p.Val36Ala) rs548436732 0.00017
NM_016038.4(SBDS):c.345G>A (p.Val115=) rs758052005 0.00001
NM_016038.4(SBDS):c.386C>G (p.Thr129Ser) rs535755807 0.00001
NM_016038.4(SBDS):c.120del (p.Ser41fs) rs113993990
NM_016038.4(SBDS):c.183_184delinsCT (p.Lys62Ter) rs113993991
NM_016038.4(SBDS):c.624+1G>C rs113993997
NM_016038.4(SBDS):c.671T>C (p.Ile224Thr) rs543458458

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