ClinVar Miner

List of variants reported as likely pathogenic for ZTTK syndrome

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Total variants: 36
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HGVS dbSNP gnomAD frequency
NM_032195.2:c.(?_-55)_1405del
NM_138927.4(SON):c.1002_5016del (p.Glu335fs)
NM_138927.4(SON):c.1075C>T (p.Gln359Ter)
NM_138927.4(SON):c.1188del (p.Pro398fs)
NM_138927.4(SON):c.1416del (p.Pro473fs) rs2145819270
NM_138927.4(SON):c.1658del (p.Val553fs) rs2085761543
NM_138927.4(SON):c.1881_1882del (p.Val629fs) rs1569053308
NM_138927.4(SON):c.202_203del (p.Val68fs)
NM_138927.4(SON):c.232C>T (p.Arg78Ter)
NM_138927.4(SON):c.2365del (p.Ser789fs) rs1555898531
NM_138927.4(SON):c.245-485_273delinsGTTG rs2085688464
NM_138927.4(SON):c.2615A>T (p.Asp872Val)
NM_138927.4(SON):c.268del (p.Ser90fs) rs1569050345
NM_138927.4(SON):c.2977_2980delinsAATTTTATTCA (p.Leu993fs) rs2145826423
NM_138927.4(SON):c.2981del (p.Ala994fs)
NM_138927.4(SON):c.3101_3113del (p.Met1034fs)
NM_138927.4(SON):c.320dup (p.Ser108fs)
NM_138927.4(SON):c.3334C>T (p.Arg1112Ter) rs1064796472
NM_138927.4(SON):c.3408C>A (p.Tyr1136Ter)
NM_138927.4(SON):c.3597_3598dup (p.Pro1200fs) rs1569055781
NM_138927.4(SON):c.3852_3856del (p.Met1284fs) rs1114167303
NM_138927.4(SON):c.4012_4013insCAGAA (p.Val1338fs) rs2145831490
NM_138927.4(SON):c.4055del (p.Pro1352fs) rs1569056484
NM_138927.4(SON):c.4151_4174del (p.Leu1384_Val1391del) rs769691894
NM_138927.4(SON):c.4358_4359del (p.Thr1453fs) rs1601268952
NM_138927.4(SON):c.4378_4381del (p.Val1460fs) rs2145833294
NM_138927.4(SON):c.4549dup (p.Glu1517fs) rs1569057333
NM_138927.4(SON):c.4640del (p.His1547fs) rs886039776
NM_138927.4(SON):c.4999_5013del (p.Asp1667_Asn1671del) rs1569058041
NM_138927.4(SON):c.5455_5456dup (p.Asp1819fs)
NM_138927.4(SON):c.5549_5550del (p.Arg1850fs) rs886039774
NM_138927.4(SON):c.5753_5756del (p.Val1918fs) rs886039773
NM_138927.4(SON):c.6002_6003insCC (p.Arg2002fs) rs886039775
NM_138927.4(SON):c.6087del (p.Ser2029fs) rs1569059792
NM_138927.4(SON):c.6657+198A>T
NM_138927.4(SON):c.944_975delinsGTCTCTG (p.Glu315fs) rs2145816784

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