ClinVar Miner

List of variants studied for Shwachman-Diamond syndrome 1 by Revvity Omics, Revvity

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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.305_308del (p.Thr102fs) rs745661722
NM_016038.4(SBDS):c.452_453dup (p.Gln152fs) rs1411636529

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