ClinVar Miner

List of variants reported as likely pathogenic for ZTTK syndrome by University of Washington Center for Mendelian Genomics,University of Washington

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 17
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HGVS dbSNP
NM_032195.2(SON):c.2365delA (p.Ser789Alafs) rs1555898531
NM_032195.2(SON):c.3334C>T (p.Arg1112Ter) rs1064796472
NM_138927.2(SON):c.3852_3856delGGTAT (p.Met1284Ilefs) rs1114167303
NM_138927.2(SON):c.4640delA (p.His1547Leufs) rs886039776
NM_138927.2(SON):c.5549_5550delGA (p.Arg1850Ilefs) rs886039774
NM_138927.2(SON):c.5753_5756delTTAG (p.Val1918Glufs) rs886039773
NM_138927.2(SON):c.6002_6003insCC (p.Arg2002Glnfs) rs886039775
NM_138927.2:c.1881_1882del
NM_138927.2:c.268del
NM_138927.2:c.4055del
NM_138927.2:c.4358_4359del
NM_138927.2:c.4999_5013del
NM_138927.2:c.6087del
NM_138927.2:c.999_5013del
NM_138927.3(SON):c.3597_3598dup (p.Pro1200Argfs)
NM_138927.3(SON):c.4151_4174del (p.Leu1384_Val1391del)
NM_138927.3(SON):c.4549dup (p.Glu1517Glyfs)

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