ClinVar Miner

List of variants in gene SBDS reported as benign for Shwachman-Diamond syndrome 1

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Gene type:
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Total variants: 4
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NM_016038.4(SBDS):c.141C>T (p.Leu47=) rs113993989
NM_016038.4(SBDS):c.201A>G (p.Lys67=) rs1061695
NM_016038.4(SBDS):c.635T>C (p.Ile212Thr) rs79344818
NM_016038.4(SBDS):c.651C>T (p.Phe217=) rs73151675

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