ClinVar Miner

List of variants reported as pathogenic for ZTTK syndrome by Institute of Human Genetics, University of Leipzig Medical Center

Included ClinVar conditions (1):

ZTTK syndrome

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Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_138927.4(SON):c.3334C>T (p.Arg1112Ter)	rs1064796472
NM_138927.4(SON):c.3617_3618del (p.Glu1206fs)	rs2145829543
NM_138927.4(SON):c.5753_5756del (p.Val1918fs)	rs886039773

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