ClinVar Miner

List of variants reported as likely pathogenic for ZTTK syndrome by Revvity Omics, Revvity

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_138927.4(SON):c.2977_2980delinsAATTTTATTCA (p.Leu993fs)	rs2145826423
NM_138927.4(SON):c.2981del (p.Ala994fs)
NM_138927.4(SON):c.944_975delinsGTCTCTG (p.Glu315fs)	rs2145816784

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