ClinVar Miner

List of variants reported as pathogenic for ZTTK syndrome by Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_138927.4(SON):c.3347_3366del (p.Ser1116fs)
NM_138927.4(SON):c.5753_5756del (p.Val1918fs)	rs886039773
NM_138927.4(SON):c.6321+1del

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