ClinVar Miner

List of variants in gene SBDS reported by PreventionGenetics, part of Exact Sciences

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Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_016038.4(SBDS):c.201A>G (p.Lys67=) rs1061695 0.08712
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.107T>C (p.Val36Ala) rs548436732 0.00017
NM_016038.4(SBDS):c.183_184delinsCT (p.Lys62Ter) rs113993991
NM_016038.4(SBDS):c.297_300del (p.Glu99fs) rs113993994

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