ClinVar Miner

List of variants in gene TTLL5 reported by CeGaT Center for Human Genetics Tuebingen

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Gene type:
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Total variants: 23
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HGVS dbSNP gnomAD frequency
NM_015072.5(TTLL5):c.181+4C>T rs117639142 0.00939
NM_015072.5(TTLL5):c.1773C>T (p.Val591=) rs61741261 0.00711
NM_015072.5(TTLL5):c.3544C>T (p.Leu1182=) rs143302131 0.00659
NM_015072.5(TTLL5):c.1963C>T (p.Leu655=) rs142427449 0.00320
NM_015072.5(TTLL5):c.2891G>A (p.Arg964Gln) rs142169707 0.00269
NM_015072.5(TTLL5):c.1326C>T (p.Leu442=) rs141322942 0.00219
NM_015072.5(TTLL5):c.2603-3T>C rs185326652 0.00175
NM_015072.5(TTLL5):c.670G>A (p.Val224Met) rs17849666 0.00105
NM_015072.5(TTLL5):c.1627G>A (p.Glu543Lys) rs199882533 0.00024
NM_015072.5(TTLL5):c.492G>A (p.Ala164=) rs374875191 0.00010
NM_015072.5(TTLL5):c.3785T>C (p.Leu1262Pro) rs143635737 0.00009
NM_015072.5(TTLL5):c.513G>A (p.Ser171=) rs375994206 0.00009
NM_015072.5(TTLL5):c.2132_2135dup (p.Met712fs) rs781415819 0.00004
NM_015072.5(TTLL5):c.1568C>T (p.Ala523Val) rs1393819034 0.00003
NM_015072.5(TTLL5):c.211C>T (p.Arg71Ter) rs1439202144 0.00001
NM_015072.5(TTLL5):c.741G>A (p.Arg247=) rs765401548 0.00001
GRCh37/hg19 14q24.3(chr14:76184204-76201632)x0
NM_015072.5(TTLL5):c.1560dup (p.Asp521Ter) rs1400806789
NM_015072.5(TTLL5):c.1624T>G (p.Tyr542Asp) rs760056637
NM_015072.5(TTLL5):c.2016-3T>C rs1566596891
NM_015072.5(TTLL5):c.338T>G (p.Leu113Arg)
NM_015072.5(TTLL5):c.630C>A (p.Tyr210Ter) rs745934202
NM_015072.5(TTLL5):c.940A>G (p.Met314Val)

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