ClinVar Miner

List of variants reported as pathogenic for ZTTK syndrome

Included ClinVar conditions (1):
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Total variants: 31
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HGVS dbSNP gnomAD frequency
NM_138927.4(SON):c.78-1G>A rs1364998040 0.00001
NM_138927.4(SON):c.117del (p.Ile41fs)
NM_138927.4(SON):c.1892_1910del (p.Glu631fs)
NM_138927.4(SON):c.2357_2358dup (p.Ala787Ter) rs2145823461
NM_138927.4(SON):c.286C>T (p.Gln96Ter) rs886039777
NM_138927.4(SON):c.2910del (p.Pro969_Tyr970insTer)
NM_138927.4(SON):c.2919dup (p.Pro974fs) rs1601263223
NM_138927.4(SON):c.2965del (p.Arg989fs) rs2145826394
NM_138927.4(SON):c.3073dup (p.Met1025fs) rs886039778
NM_138927.4(SON):c.3156del (p.Met1053fs)
NM_138927.4(SON):c.3334C>T (p.Arg1112Ter) rs1064796472
NM_138927.4(SON):c.3556C>T (p.Gln1186Ter) rs1275312464
NM_138927.4(SON):c.3617_3618del (p.Glu1206fs) rs2145829543
NM_138927.4(SON):c.384del (p.Lys128fs) rs778418096
NM_138927.4(SON):c.3852_3856del (p.Met1284fs) rs1114167303
NM_138927.4(SON):c.3968_3975delinsGTTGGT (p.Ser1323fs) rs2145831260
NM_138927.4(SON):c.4151_4174del (p.Leu1384_Val1391del) rs769691894
NM_138927.4(SON):c.4198_4201del (p.Pro1400fs) rs2145832543
NM_138927.4(SON):c.4480C>T (p.Gln1494Ter)
NM_138927.4(SON):c.4640del (p.His1547fs) rs886039776
NM_138927.4(SON):c.5533delinsACG (p.Ser1845fs) rs2085921116
NM_138927.4(SON):c.5549_5550del (p.Arg1850fs) rs886039774
NM_138927.4(SON):c.5717_5720del (p.Arg1906fs) rs1382415023
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.6022C>T (p.Arg2008Ter) rs1555899560
NM_138927.4(SON):c.6233del (p.Pro2078fs) rs886039779
NM_138927.4(SON):c.6321+1G>A rs2085987512
NM_138927.4(SON):c.6321+1del
NM_138927.4(SON):c.6920G>A (p.Gly2307Glu) rs1601299278
Single allele

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