ClinVar Miner

List of variants in gene TTLL5 reported as pathogenic for not provided

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Gene type:
ClinVar version:
Total variants: 78
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HGVS dbSNP gnomAD frequency
NM_015072.5(TTLL5):c.1627G>A (p.Glu543Lys) rs199882533 0.00024
NM_015072.5(TTLL5):c.1920G>A (p.Trp640Ter) rs367693933 0.00012
NM_015072.5(TTLL5):c.3508C>T (p.Arg1170Ter) rs769845921 0.00008
NM_015072.5(TTLL5):c.2132_2135dup (p.Met712fs) rs781415819 0.00004
NM_015072.5(TTLL5):c.2212C>T (p.Arg738Ter) rs377702881 0.00004
NM_015072.5(TTLL5):c.1166C>G (p.Ser389Ter) rs774889687 0.00002
NM_015072.5(TTLL5):c.1435C>T (p.Arg479Ter) rs753018563 0.00002
NM_015072.5(TTLL5):c.2029C>T (p.Arg677Ter) rs138370992 0.00002
NM_015072.5(TTLL5):c.1987C>T (p.Gln663Ter) rs754048173 0.00001
NM_015072.5(TTLL5):c.264+1G>A rs1163242822 0.00001
NM_015072.5(TTLL5):c.3510_3519del (p.Ala1171fs) rs2030237603 0.00001
NM_015072.5(TTLL5):c.3760C>T (p.Gln1254Ter) rs140018292 0.00001
NM_015072.5(TTLL5):c.629dup (p.Tyr210Ter) rs775585293 0.00001
GRCh37/hg19 14q24.3(chr14:76279519-76359171)x1
NC_000014.8:g.(?_76147868)_(76147990_?)del
NC_000014.8:g.(?_76147868)_(76150019_?)del
NC_000014.8:g.(?_76156515)_(76156685_?)del
NC_000014.8:g.(?_76165511)_(76211944_?)del
NC_000014.8:g.(?_76184184)_(76201652_?)del
NC_000014.8:g.(?_76211418)_(76211944_?)del
NC_000014.8:g.(?_76230938)_(76259463_?)del
NC_000014.8:g.(?_76238057)_(76238217_?)del
NC_000014.8:g.(?_76249470)_(76286524_?)del
NC_000014.8:g.(?_76259239)_(76286524_?)del
NC_000014.8:g.(?_76286330)_(76286524_?)del
NC_000014.8:g.(?_76286330)_(76349265_?)del
NC_000014.9:g.(?_75745095)_(75783530_?)del
NM_015072.5(TTLL5):c.1049_1050del (p.Tyr350fs)
NM_015072.5(TTLL5):c.1089del (p.Trp363fs)
NM_015072.5(TTLL5):c.1110_1111del (p.Pro371fs)
NM_015072.5(TTLL5):c.1186+1del rs2140236907
NM_015072.5(TTLL5):c.1242del (p.Phe415fs) rs1309614617
NM_015072.5(TTLL5):c.1248del (p.Glu416fs) rs1408235770
NM_015072.5(TTLL5):c.1258C>T (p.Arg420Ter) rs541400148
NM_015072.5(TTLL5):c.1270C>T (p.Gln424Ter)
NM_015072.5(TTLL5):c.1282-2A>G
NM_015072.5(TTLL5):c.1312G>T (p.Glu438Ter) rs2140258948
NM_015072.5(TTLL5):c.1476G>A (p.Trp492Ter)
NM_015072.5(TTLL5):c.155del (p.Lys52fs)
NM_015072.5(TTLL5):c.1560dup (p.Asp521Ter) rs1400806789
NM_015072.5(TTLL5):c.1627G>T (p.Glu543Ter) rs199882533
NM_015072.5(TTLL5):c.1666C>T (p.Arg556Ter) rs770811029
NM_015072.5(TTLL5):c.1738A>T (p.Lys580Ter)
NM_015072.5(TTLL5):c.1810del (p.Gln604fs) rs1890963211
NM_015072.5(TTLL5):c.2023C>T (p.Gln675Ter)
NM_015072.5(TTLL5):c.2209C>T (p.Arg737Ter) rs1555344661
NM_015072.5(TTLL5):c.2251del (p.Gln751fs)
NM_015072.5(TTLL5):c.2261dup (p.Asp754fs) rs1891670149
NM_015072.5(TTLL5):c.2290_2291del (p.Glu764fs) rs2140319419
NM_015072.5(TTLL5):c.2365C>T (p.Gln789Ter)
NM_015072.5(TTLL5):c.2602C>T (p.Arg868Ter)
NM_015072.5(TTLL5):c.260_261dup (p.Glu88fs)
NM_015072.5(TTLL5):c.2641del (p.Tyr881fs) rs2140331365
NM_015072.5(TTLL5):c.2885dup (p.Cys963fs) rs2140331555
NM_015072.5(TTLL5):c.2890C>T (p.Arg964Ter) rs777359273
NM_015072.5(TTLL5):c.3100C>T (p.Gln1034Ter)
NM_015072.5(TTLL5):c.3177_3180del (p.Thr1059_Asn1060insTer) rs772656461
NM_015072.5(TTLL5):c.3238C>T (p.Arg1080Ter)
NM_015072.5(TTLL5):c.3329del (p.Ser1110fs) rs759929075
NM_015072.5(TTLL5):c.3339_3340del (p.Gly1115fs) rs1595168879
NM_015072.5(TTLL5):c.3344dup (p.Phe1116fs) rs2139945350
NM_015072.5(TTLL5):c.3393del (p.Val1133fs) rs2030231685
NM_015072.5(TTLL5):c.3401del (p.Val1134fs)
NM_015072.5(TTLL5):c.3552del (p.Ser1185fs) rs2140023956
NM_015072.5(TTLL5):c.3579_3583dup (p.Gly1195fs) rs760158148
NM_015072.5(TTLL5):c.365_366del (p.Phe122fs) rs2140122597
NM_015072.5(TTLL5):c.401del (p.Leu134fs) rs587777470
NM_015072.5(TTLL5):c.410dup (p.Asn137fs)
NM_015072.5(TTLL5):c.521_527del (p.Arg174fs)
NM_015072.5(TTLL5):c.525dup (p.Pro176fs)
NM_015072.5(TTLL5):c.561del (p.Arg188fs)
NM_015072.5(TTLL5):c.561dup (p.Arg188fs)
NM_015072.5(TTLL5):c.630C>A (p.Tyr210Ter) rs745934202
NM_015072.5(TTLL5):c.720_721del (p.Leu240_Tyr241insTer) rs754950305
NM_015072.5(TTLL5):c.787C>T (p.Gln263Ter)
NM_015072.5(TTLL5):c.789_793del (p.Gln263fs)
NM_015072.5(TTLL5):c.95G>A (p.Trp32Ter)
NM_015072.5(TTLL5):c.976del (p.Ile326fs) rs1887780037

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