ClinVar Miner

List of variants reported as pathogenic for ZTTK syndrome by OMIM

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
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NM_001291412.2(SON):c.245-2376_245-2375del rs886039774
NM_001291412.2(SON):c.245-3285del rs886039776
NM_001291412.2(SON):c.245-4852dup rs886039778
NM_032195.2(SON):c.6233del (p.Pro2078fs) rs886039779
NM_138927.3(SON):c.286C>T (p.Gln96Ter) rs886039777
NM_138927.3(SON):c.5753_5756del (p.Val1918fs) rs886039773
NM_138927.3(SON):c.6002_6003insCC (p.Arg2002fs) rs886039775

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