ClinVar Miner

List of variants studied 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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HGVS dbSNP
NM_138927.3(SON):c.286C>T (p.Gln96Ter) rs886039777
NM_138927.3(SON):c.3073dup (p.Met1025fs) rs886039778
NM_138927.3(SON):c.4640del (p.His1547fs) rs886039776
NM_138927.3(SON):c.5547_5548GA[1] (p.Arg1850fs) rs886039774
NM_138927.3(SON):c.5753_5756del (p.Val1918fs) rs886039773
NM_138927.3(SON):c.6002_6003insCC (p.Arg2002fs) rs886039775
NM_138927.3(SON):c.6233del (p.Pro2078fs) rs886039779

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