ClinVar Miner

List of variants in gene TUSC3 reported by Ambry Genetics

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Total variants: 39
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HGVS dbSNP gnomAD frequency
NM_006765.4(TUSC3):c.912G>A (p.Ser304=) rs17121892 0.02710
NM_006765.4(TUSC3):c.193A>G (p.Ile65Val) rs11545035 0.00605
NM_006765.4(TUSC3):c.38C>T (p.Ala13Val) rs200808372 0.00054
NM_006765.4(TUSC3):c.768T>C (p.Tyr256=) rs149033081 0.00029
NM_006765.4(TUSC3):c.992C>A (p.Ser331Ter) rs200667343 0.00007
NM_006765.4(TUSC3):c.25C>G (p.Arg9Gly) rs755808199 0.00006
NM_006765.4(TUSC3):c.934C>T (p.Arg312Trp) rs554205458 0.00006
NM_006765.4(TUSC3):c.677A>G (p.Tyr226Cys) rs146409575 0.00003
NM_006765.4(TUSC3):c.44G>C (p.Arg15Pro) rs760691014 0.00001
NM_006765.4(TUSC3):c.951G>C (p.Val317=) rs751598385 0.00001
NM_006765.4(TUSC3):c.1029-5G>C
NM_006765.4(TUSC3):c.1033C>G (p.Leu345Val)
NM_006765.4(TUSC3):c.1041dup (p.Glu348Ter)
NM_006765.4(TUSC3):c.116G>C (p.Gly39Ala)
NM_006765.4(TUSC3):c.162G>T (p.Glu54Asp)
NM_006765.4(TUSC3):c.168G>C (p.Leu56=)
NM_006765.4(TUSC3):c.188G>C (p.Arg63Pro)
NM_006765.4(TUSC3):c.255C>G (p.Ser85=)
NM_006765.4(TUSC3):c.266T>C (p.Met89Thr) rs767169040
NM_006765.4(TUSC3):c.26G>T (p.Arg9Leu)
NM_006765.4(TUSC3):c.304T>C (p.Cys102Arg)
NM_006765.4(TUSC3):c.330A>G (p.Gln110=)
NM_006765.4(TUSC3):c.414C>A (p.Asp138Glu)
NM_006765.4(TUSC3):c.44G>A (p.Arg15Gln)
NM_006765.4(TUSC3):c.467C>G (p.Pro156Arg)
NM_006765.4(TUSC3):c.529C>T (p.Gln177Ter)
NM_006765.4(TUSC3):c.537A>T (p.Ala179=) rs143994939
NM_006765.4(TUSC3):c.558G>A (p.Thr186=)
NM_006765.4(TUSC3):c.568-4_568-3delinsAT rs1563160043
NM_006765.4(TUSC3):c.594C>T (p.Tyr198=)
NM_006765.4(TUSC3):c.649T>A (p.Leu217Met)
NM_006765.4(TUSC3):c.673A>G (p.Ile225Val) rs1253794321
NM_006765.4(TUSC3):c.697A>G (p.Met233Val)
NM_006765.4(TUSC3):c.780C>G (p.Asn260Lys)
NM_006765.4(TUSC3):c.798G>A (p.Val266=)
NM_006765.4(TUSC3):c.868G>T (p.Ala290Ser)
NM_006765.4(TUSC3):c.87C>T (p.Leu29=) rs78626330
NM_006765.4(TUSC3):c.938-8_939del
NM_006765.4(TUSC3):c.967G>C (p.Val323Leu)

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