ClinVar Miner

List of variants in gene USB1 reported as uncertain significance by Ambry Genetics

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Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 107
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HGVS dbSNP gnomAD frequency
NM_024598.4(USB1):c.106A>G (p.Ser36Gly) rs138405924 0.00026
NM_024598.4(USB1):c.784A>G (p.Met262Val) rs143382202 0.00023
NM_024598.4(USB1):c.734G>A (p.Arg245His) rs140289507 0.00021
NM_024598.4(USB1):c.335G>A (p.Arg112Gln) rs142683238 0.00009
NM_024598.4(USB1):c.704A>T (p.Asp235Val) rs1018834431 0.00009
NM_024598.4(USB1):c.224C>T (p.Pro75Leu) rs763524876 0.00006
NM_024598.4(USB1):c.452T>A (p.Phe151Tyr) rs375204675 0.00006
NM_024598.4(USB1):c.755G>A (p.Arg252His) rs780003077 0.00006
NM_024598.4(USB1):c.771C>G (p.Asn257Lys) rs149041481 0.00006
NM_024598.4(USB1):c.431G>A (p.Arg144His) rs367780234 0.00005
NM_024598.4(USB1):c.655C>T (p.Arg219Cys) rs554516072 0.00005
NM_024598.4(USB1):c.169G>A (p.Glu57Lys) rs745321157 0.00004
NM_024598.4(USB1):c.533G>A (p.Gly178Glu) rs374426055 0.00004
NM_024598.4(USB1):c.161C>T (p.Pro54Leu) rs1345800871 0.00003
NM_024598.4(USB1):c.194C>A (p.Thr65Lys) rs749129393 0.00002
NM_024598.4(USB1):c.214C>T (p.Arg72Cys) rs567360825 0.00002
NM_024598.4(USB1):c.253G>A (p.Val85Ile) rs764580227 0.00002
NM_024598.4(USB1):c.520G>C (p.Glu174Gln) rs768341871 0.00002
NM_024598.4(USB1):c.568G>A (p.Asp190Asn) rs772999682 0.00002
NM_024598.4(USB1):c.700G>A (p.Val234Met) rs762033139 0.00002
NM_024598.4(USB1):c.226C>A (p.His76Asn) rs780752842 0.00001
NM_024598.4(USB1):c.229G>A (p.Glu77Lys) rs1226771318 0.00001
NM_024598.4(USB1):c.326A>G (p.Tyr109Cys) rs764413085 0.00001
NM_024598.4(USB1):c.334C>T (p.Arg112Trp) rs982747023 0.00001
NM_024598.4(USB1):c.377G>A (p.Ser126Asn) rs757421099 0.00001
NM_024598.4(USB1):c.388C>T (p.Arg130Cys) rs769898628 0.00001
NM_024598.4(USB1):c.395A>G (p.His132Arg) rs1481550649 0.00001
NM_024598.4(USB1):c.584A>C (p.Glu195Ala) rs754116399 0.00001
NM_024598.4(USB1):c.58G>A (p.Asp20Asn) rs1227473466 0.00001
NM_024598.4(USB1):c.598A>G (p.Thr200Ala) rs758357702 0.00001
NM_024598.4(USB1):c.725T>C (p.Val242Ala) rs766841291 0.00001
NM_024598.4(USB1):c.736G>A (p.Val246Met) rs751177454 0.00001
NM_024598.4(USB1):c.782C>T (p.Ser261Leu) rs368558020 0.00001
NM_024598.4(USB1):c.788C>T (p.Pro263Leu) rs773169264 0.00001
NM_024598.4(USB1):c.104A>C (p.Gln35Pro) rs762585706
NM_024598.4(USB1):c.104A>G (p.Gln35Arg)
NM_024598.4(USB1):c.112C>T (p.Leu38Phe)
NM_024598.4(USB1):c.133G>T (p.Val45Leu)
NM_024598.4(USB1):c.155T>C (p.Met52Thr)
NM_024598.4(USB1):c.173A>T (p.Glu58Val)
NM_024598.4(USB1):c.189C>G (p.Asp63Glu)
NM_024598.4(USB1):c.205G>A (p.Gly69Arg) rs762121009
NM_024598.4(USB1):c.215G>A (p.Arg72His) rs372917091
NM_024598.4(USB1):c.215G>C (p.Arg72Pro) rs372917091
NM_024598.4(USB1):c.217A>G (p.Thr73Ala)
NM_024598.4(USB1):c.218C>T (p.Thr73Ile)
NM_024598.4(USB1):c.262C>T (p.Pro88Ser)
NM_024598.4(USB1):c.280G>A (p.Glu94Lys) rs1201671537
NM_024598.4(USB1):c.299A>G (p.Asp100Gly)
NM_024598.4(USB1):c.306G>C (p.Leu102Phe) rs2544726295
NM_024598.4(USB1):c.311C>T (p.Pro104Leu)
NM_024598.4(USB1):c.331C>A (p.Pro111Thr)
NM_024598.4(USB1):c.331C>T (p.Pro111Ser)
NM_024598.4(USB1):c.332C>G (p.Pro111Arg)
NM_024598.4(USB1):c.367C>G (p.Leu123Val) rs777694507
NM_024598.4(USB1):c.375G>C (p.Gln125His)
NM_024598.4(USB1):c.389G>A (p.Arg130His)
NM_024598.4(USB1):c.392A>G (p.His131Arg)
NM_024598.4(USB1):c.400A>G (p.Ile134Val)
NM_024598.4(USB1):c.407C>T (p.Pro136Leu)
NM_024598.4(USB1):c.419C>A (p.Ala140Asp)
NM_024598.4(USB1):c.419C>T (p.Ala140Val)
NM_024598.4(USB1):c.430C>T (p.Arg144Cys)
NM_024598.4(USB1):c.434T>C (p.Met145Thr)
NM_024598.4(USB1):c.437C>A (p.Thr146Asn) rs1449480304
NM_024598.4(USB1):c.439T>G (p.Ser147Ala)
NM_024598.4(USB1):c.446A>G (p.His149Arg)
NM_024598.4(USB1):c.454T>G (p.Phe152Val)
NM_024598.4(USB1):c.456C>G (p.Phe152Leu)
NM_024598.4(USB1):c.457T>C (p.Phe153Leu)
NM_024598.4(USB1):c.461C>T (p.Thr154Ile) rs779326318
NM_024598.4(USB1):c.478A>G (p.Ile160Val)
NM_024598.4(USB1):c.478A>T (p.Ile160Phe)
NM_024598.4(USB1):c.490C>A (p.Gln164Lys) rs2544732064
NM_024598.4(USB1):c.496A>G (p.Lys166Glu)
NM_024598.4(USB1):c.498A>C (p.Lys166Asn)
NM_024598.4(USB1):c.499A>G (p.Thr167Ala) rs139558948
NM_024598.4(USB1):c.543G>C (p.Gln181His)
NM_024598.4(USB1):c.544T>C (p.Phe182Leu)
NM_024598.4(USB1):c.547C>G (p.Leu183Val)
NM_024598.4(USB1):c.590A>G (p.Asn197Ser) rs377411772
NM_024598.4(USB1):c.592C>G (p.Leu198Val)
NM_024598.4(USB1):c.593T>C (p.Leu198Pro)
NM_024598.4(USB1):c.61G>A (p.Gly21Arg) rs778756392
NM_024598.4(USB1):c.61G>C (p.Gly21Arg) rs778756392
NM_024598.4(USB1):c.620T>C (p.Phe207Ser)
NM_024598.4(USB1):c.628A>G (p.Ser210Gly)
NM_024598.4(USB1):c.62G>A (p.Gly21Glu)
NM_024598.4(USB1):c.62G>T (p.Gly21Val)
NM_024598.4(USB1):c.652G>A (p.Ala218Thr) rs1192603229
NM_024598.4(USB1):c.653C>T (p.Ala218Val) rs1230519072
NM_024598.4(USB1):c.664C>G (p.Leu222Val)
NM_024598.4(USB1):c.670G>T (p.Gly224Trp)
NM_024598.4(USB1):c.673C>A (p.Gln225Lys)
NM_024598.4(USB1):c.694G>A (p.Ala232Thr)
NM_024598.4(USB1):c.701T>C (p.Val234Ala) rs2544736556
NM_024598.4(USB1):c.706G>A (p.Gly236Arg)
NM_024598.4(USB1):c.723G>C (p.Glu241Asp) rs761098113
NM_024598.4(USB1):c.725T>A (p.Val242Glu) rs766841291
NM_024598.4(USB1):c.754C>A (p.Arg252Ser) rs146419360
NM_024598.4(USB1):c.754C>T (p.Arg252Cys) rs146419360
NM_024598.4(USB1):c.763T>A (p.Ser255Thr) rs2142314696
NM_024598.4(USB1):c.776T>C (p.Phe259Ser)
NM_024598.4(USB1):c.777C>A (p.Phe259Leu)
NM_024598.4(USB1):c.785T>C (p.Met262Thr) rs1207372145
NM_024598.4(USB1):c.787C>G (p.Pro263Ala)
NM_024598.4(USB1):c.793A>G (p.Lys265Glu)

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