ClinVar Miner

List of variants studied for ZTTK syndrome by Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_138927.4(SON):c.971C>T (p.Thr324Ile) rs1048212485 0.00001
NM_138927.4(SON):c.202_203del (p.Val68fs)
NM_138927.4(SON):c.5753_5756del (p.Val1918fs) rs886039773
Single allele

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