ClinVar Miner

List of variants in gene SON studied for ZTTK syndrome

Included ClinVar conditions (1):
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Total variants: 28
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HGVS dbSNP
NM_001291412.2(SON):c.244+3236del rs778418096
NM_001291412.2(SON):c.244+4931_244+4933del rs1601261295
NM_001291412.2(SON):c.244+5217del rs1555898531
NM_001291412.2(SON):c.245-2376_245-2375del rs886039774
NM_001291412.2(SON):c.245-3285del rs886039776
NM_001291412.2(SON):c.245-3567_245-3566del rs1601268952
NM_001291412.2(SON):c.245-4073_245-4069del rs1114167303
NM_001291412.2(SON):c.245-4852dup rs886039778
NM_001291412.2(SON):c.245-5006dup rs1601263223
NM_032195.2(SON):c.6022C>T (p.Arg2008Ter) rs1555899560
NM_032195.2(SON):c.6233del (p.Pro2078fs) rs886039779
NM_138927.3(SON):c.1881_1882del (p.Val629fs) rs1569053308
NM_138927.3(SON):c.268del (p.Ser90fs) rs1569050345
NM_138927.3(SON):c.286C>T (p.Gln96Ter) rs886039777
NM_138927.3(SON):c.3334C>T (p.Arg1112Ter) rs1064796472
NM_138927.3(SON):c.3556C>T (p.Gln1186Ter) rs1275312464
NM_138927.3(SON):c.3597_3598dup (p.Pro1200fs) rs1569055781
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.4549dup (p.Glu1517fs) rs1569057333
NM_138927.3(SON):c.4999_5013del (p.Asp1667_Asn1671del) rs1569058041
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
NM_138927.4(SON):c.1658del (p.Val553fs)
NM_138927.4(SON):c.490G>A (p.Ala164Thr)
NM_138927.4(SON):c.6321+1G>A
NM_138927.4(SON):c.6920G>A (p.Gly2307Glu) rs1601299278

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