ClinVar Miner

List of variants studied for Shwachman-Diamond syndrome 1 by Neuberg Centre For Genomic Medicine, NCGM

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
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.38C>T (p.Thr13Ile)

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