ClinVar Miner

List of variants in gene SON reported as likely pathogenic for ZTTK syndrome

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 16
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HGVS dbSNP
NM_138927.3(SON):c.1881_1882del (p.Val629fs) rs1569053308
NM_138927.3(SON):c.2365del (p.Ser789fs) rs1555898531
NM_138927.3(SON):c.268del (p.Ser90fs) rs1569050345
NM_138927.3(SON):c.3334C>T (p.Arg1112Ter) rs1064796472
NM_138927.3(SON):c.3597_3598dup (p.Pro1200fs) rs1569055781
NM_138927.3(SON):c.3852_3856del (p.Met1284fs) rs1114167303
NM_138927.3(SON):c.4055del (p.Pro1352fs) rs1569056484
NM_138927.3(SON):c.4151_4174del (p.Leu1384_Val1391del) rs769691894
NM_138927.3(SON):c.4356_4357CA[1] (p.Thr1453fs)
NM_138927.3(SON):c.4549dup (p.Glu1517fs) rs1569057333
NM_138927.3(SON):c.4640del (p.His1547fs) rs886039776
NM_138927.3(SON):c.4999_5013del (p.Asp1667_Asn1671del) rs1569058041
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.6087del (p.Ser2029fs) rs1569059792

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