ClinVar Miner

List of variants studied for Shwachman-Diamond syndrome 1 by Genome Diagnostics Laboratory, University Medical Center Utrecht

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_016038.4(SBDS):c.635T>C (p.Ile212Thr) rs79344818 0.02573
NM_016038.4(SBDS):c.141C>T (p.Leu47=) rs113993989 0.00747
NM_016038.4(SBDS):c.258+2T>C rs113993993 0.00323

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