ClinVar Miner

List of variants reported as uncertain significance for ZTTK syndrome

Included ClinVar conditions (1):
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ClinVar version:
Total variants: 77
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HGVS dbSNP gnomAD frequency
NM_138927.4(SON):c.5200G>A (p.Val1734Met) rs146053621 0.00013
NM_138927.4(SON):c.3785C>T (p.Thr1262Ile) rs144772325 0.00011
NM_138927.4(SON):c.4783T>C (p.Ser1595Pro) rs746252717 0.00003
NM_138927.4(SON):c.3818A>G (p.His1273Arg) rs770797378 0.00002
NM_138927.4(SON):c.5969G>A (p.Arg1990His) rs750382142 0.00002
NM_138927.4(SON):c.2159C>G (p.Thr720Ser) rs765797562 0.00001
NM_138927.4(SON):c.3530C>T (p.Pro1177Leu) rs1271288888 0.00001
NM_138927.4(SON):c.4179G>T (p.Glu1393Asp) rs769227177 0.00001
NM_138927.4(SON):c.4451T>C (p.Met1484Thr) rs768725387 0.00001
NM_138927.4(SON):c.4638A>G (p.Glu1546=) rs758818850 0.00001
NM_138927.4(SON):c.4901C>T (p.Thr1634Ile) rs1038263767 0.00001
NM_138927.4(SON):c.5894G>A (p.Arg1965His) rs1038271217 0.00001
NM_138927.4(SON):c.5950C>T (p.Arg1984Trp) rs1312220322 0.00001
NM_138927.4(SON):c.7091T>C (p.Met2364Thr) rs2086383610 0.00001
NM_138927.4(SON):c.961A>C (p.Ser321Arg) rs752432317 0.00001
NM_138927.4(SON):c.971C>T (p.Thr324Ile) rs1048212485 0.00001
NM_138927.4(SON):c.1043C>T (p.Ser348Leu)
NM_138927.4(SON):c.1091T>C (p.Leu364Pro) rs2085736646
NM_138927.4(SON):c.1096A>G (p.Lys366Glu) rs772141202
NM_138927.4(SON):c.1347G>T (p.Leu449Phe)
NM_138927.4(SON):c.1568A>G (p.Glu523Gly) rs2085757885
NM_138927.4(SON):c.1653G>T (p.Gln551His)
NM_138927.4(SON):c.1736_1738del (p.Thr579del)
NM_138927.4(SON):c.1798C>T (p.Leu600Phe)
NM_138927.4(SON):c.1898C>T (p.Pro633Leu)
NM_138927.4(SON):c.196G>A (p.Glu66Lys)
NM_138927.4(SON):c.2005G>A (p.Val669Met)
NM_138927.4(SON):c.2076TAC[1] (p.Thr694del) rs1601261295
NM_138927.4(SON):c.2191A>G (p.Met731Val) rs1416371859
NM_138927.4(SON):c.2302A>G (p.Thr768Ala)
NM_138927.4(SON):c.2449G>T (p.Ala817Ser) rs2085793292
NM_138927.4(SON):c.2539G>C (p.Ala847Pro)
NM_138927.4(SON):c.2655G>A (p.Met885Ile)
NM_138927.4(SON):c.2715G>A (p.Met905Ile) rs1468904625
NM_138927.4(SON):c.2905C>T (p.Pro969Ser)
NM_138927.4(SON):c.2966G>A (p.Arg989Lys)
NM_138927.4(SON):c.3136G>A (p.Glu1046Lys) rs2085820124
NM_138927.4(SON):c.3145A>G (p.Met1049Val)
NM_138927.4(SON):c.3255_3281del (p.Met1086_Ser1094del)
NM_138927.4(SON):c.3469A>G (p.Met1157Val)
NM_138927.4(SON):c.3541G>A (p.Ala1181Thr)
NM_138927.4(SON):c.3587C>T (p.Pro1196Leu) rs1225874870
NM_138927.4(SON):c.3638C>T (p.Pro1213Leu)
NM_138927.4(SON):c.3815A>G (p.Glu1272Gly) rs2085849259
NM_138927.4(SON):c.3899C>T (p.Ser1300Leu)
NM_138927.4(SON):c.3952T>C (p.Ser1318Pro)
NM_138927.4(SON):c.3958C>A (p.His1320Asn)
NM_138927.4(SON):c.3980C>T (p.Thr1327Ile)
NM_138927.4(SON):c.4207G>A (p.Val1403Ile)
NM_138927.4(SON):c.4349C>T (p.Pro1450Leu)
NM_138927.4(SON):c.4424A>C (p.Glu1475Ala)
NM_138927.4(SON):c.4548G>A (p.Glu1516=) rs2085879819
NM_138927.4(SON):c.4593T>A (p.Asn1531Lys) rs73900350
NM_138927.4(SON):c.490G>A (p.Ala164Thr) rs775502003
NM_138927.4(SON):c.4972C>T (p.Pro1658Ser) rs2085897193
NM_138927.4(SON):c.4996C>G (p.Leu1666Val)
NM_138927.4(SON):c.5138A>G (p.Lys1713Arg)
NM_138927.4(SON):c.5221G>C (p.Asp1741His) rs2085909010
NM_138927.4(SON):c.5301_5316delinsC (p.Ala1768_Val1772del)
NM_138927.4(SON):c.5572C>T (p.Arg1858Cys) rs267606111
NM_138927.4(SON):c.5647AGA[1] (p.Arg1884del)
NM_138927.4(SON):c.5719A>C (p.Lys1907Gln) rs2085927666
NM_138927.4(SON):c.5788C>T (p.Arg1930Trp)
NM_138927.4(SON):c.5840G>A (p.Arg1947Lys) rs2085932078
NM_138927.4(SON):c.5873G>A (p.Arg1958His)
NM_138927.4(SON):c.5891_5892delinsTT (p.Ser1964Ile) rs2085934599
NM_138927.4(SON):c.5920C>G (p.Pro1974Ala)
NM_138927.4(SON):c.5978G>A (p.Arg1993His) rs1241567565
NM_138927.4(SON):c.6083T>A (p.Phe2028Tyr) rs2085944855
NM_138927.4(SON):c.6104G>A (p.Arg2035His)
NM_138927.4(SON):c.637G>C (p.Glu213Gln) rs2085716994
NM_138927.4(SON):c.6644A>C (p.Asn2215Thr)
NM_138927.4(SON):c.6657+316G>A rs1013825474
NM_138927.4(SON):c.746C>G (p.Pro249Arg)
NM_138927.4(SON):c.761C>T (p.Thr254Ile) rs2085722208
NM_138927.4(SON):c.883C>G (p.Pro295Ala)
NM_138927.4(SON):c.937C>T (p.Pro313Ser)

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