ClinVar Miner

List of variants in gene CTU2 reported as uncertain significance for not provided

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Gene type:
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Total variants: 53
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HGVS dbSNP gnomAD frequency
NM_001012759.3(CTU2):c.1531G>A (p.Glu511Lys) rs201215099 0.00226
NM_001012759.3(CTU2):c.424T>C (p.Phe142Leu) rs148239801 0.00111
NM_001012759.3(CTU2):c.1298G>C (p.Cys433Ser) rs142662688 0.00107
NM_001012759.3(CTU2):c.611C>T (p.Pro204Leu) rs141967170 0.00087
NM_001012759.3(CTU2):c.200G>A (p.Arg67Gln) rs149997219 0.00068
NM_001012759.3(CTU2):c.188T>C (p.Leu63Pro) rs147948789 0.00061
NM_001012759.3(CTU2):c.1327C>T (p.Arg443Cys) rs374920828 0.00034
NM_001012759.3(CTU2):c.119T>A (p.Ile40Lys) rs61730430 0.00015
NM_001012759.3(CTU2):c.710C>T (p.Ala237Val) rs200180602 0.00014
NM_001012759.3(CTU2):c.1468C>T (p.Arg490Cys) rs368079417 0.00012
NM_001012759.3(CTU2):c.1373T>C (p.Ile458Thr) rs764094808 0.00007
NM_001012759.3(CTU2):c.342C>T (p.Asp114=) rs770597327 0.00005
NM_001012759.3(CTU2):c.1198G>A (p.Ala400Thr) rs993333216 0.00004
NM_001012759.3(CTU2):c.199C>T (p.Arg67Trp) rs200836148 0.00004
NM_001012759.3(CTU2):c.887A>C (p.Glu296Ala) rs142702969 0.00004
NM_001012759.3(CTU2):c.284G>A (p.Gly95Asp) rs762481891 0.00003
NM_001012759.3(CTU2):c.1159C>T (p.Arg387Cys) rs753392867 0.00001
NM_001012759.3(CTU2):c.187C>G (p.Leu63Val) rs1033715743 0.00001
NM_001012759.3(CTU2):c.22T>A (p.Tyr8Asn) rs1471557333 0.00001
NM_001012759.3(CTU2):c.241G>C (p.Gly81Arg) rs1245971903 0.00001
NM_001012759.3(CTU2):c.242G>C (p.Gly81Ala) rs2142713603 0.00001
NM_001012759.3(CTU2):c.970G>A (p.Val324Ile) rs774672391 0.00001
NM_001012759.3(CTU2):c.1036A>G (p.Met346Val) rs1479697824
NM_001012759.3(CTU2):c.1097+6G>T rs75686921
NM_001012759.3(CTU2):c.1098-3C>G
NM_001012759.3(CTU2):c.1108A>G (p.Lys370Glu)
NM_001012759.3(CTU2):c.1127G>T (p.Arg376Leu) rs61730419
NM_001012759.3(CTU2):c.1211C>T (p.Thr404Met)
NM_001012759.3(CTU2):c.121C>G (p.Arg41Gly) rs201724248
NM_001012759.3(CTU2):c.124G>A (p.Ala42Thr) rs1339742213
NM_001012759.3(CTU2):c.1251G>A (p.Met417Ile) rs374287518
NM_001012759.3(CTU2):c.1320_1331del (p.Trp440_Arg443del) rs1304796141
NM_001012759.3(CTU2):c.1345T>G (p.Cys449Gly) rs777512015
NM_001012759.3(CTU2):c.1411_1413del (p.Lys471del) rs1911802429
NM_001012759.3(CTU2):c.143+3G>T rs2142700694
NM_001012759.3(CTU2):c.1501_1503delinsTGC (p.Arg501Cys)
NM_001012759.3(CTU2):c.377G>C (p.Arg126Thr) rs777379637
NM_001012759.3(CTU2):c.39_59del (p.Glu14_Pro20del)
NM_001012759.3(CTU2):c.550C>G (p.Gln184Glu) rs754150426
NM_001012759.3(CTU2):c.607C>T (p.Pro203Ser) rs1188754409
NM_001012759.3(CTU2):c.647C>T (p.Pro216Leu) rs146775425
NM_001012759.3(CTU2):c.68G>C (p.Ser23Thr) rs536176202
NM_001012759.3(CTU2):c.715GAG[1] (p.Glu240del)
NM_001012759.3(CTU2):c.731C>T (p.Thr244Ile) rs568660732
NM_001012759.3(CTU2):c.737+21_737+63dup
NM_001012759.3(CTU2):c.737G>A (p.Arg246Gln)
NM_001012759.3(CTU2):c.772G>A (p.Gly258Ser) rs142100748
NM_001012759.3(CTU2):c.858C>G (p.Phe286Leu)
NM_001012759.3(CTU2):c.881C>A (p.Ser294Ter) rs201111272
NM_001012759.3(CTU2):c.904G>A (p.Val302Met) rs1213257188
NM_001012759.3(CTU2):c.932C>T (p.Thr311Ile)
NM_001012759.3(CTU2):c.947C>G (p.Ala316Gly) rs1276542711
NM_001012759.3(CTU2):c.997G>T (p.Asp333Tyr) rs780495568

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