ClinVar Miner

List of variants in gene USB1 reported as uncertain significance for not provided

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Gene type:
ClinVar version:
Total variants: 117
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HGVS dbSNP gnomAD frequency
NM_024598.4(USB1):c.641G>A (p.Cys214Tyr) rs146685901 0.00223
NM_024598.4(USB1):c.784A>G (p.Met262Val) rs143382202 0.00027
NM_024598.4(USB1):c.106A>G (p.Ser36Gly) rs138405924 0.00026
NM_024598.4(USB1):c.734G>A (p.Arg245His) rs140289507 0.00021
NM_024598.4(USB1):c.512T>C (p.Ile171Thr) rs149725439 0.00017
NM_024598.4(USB1):c.335G>A (p.Arg112Gln) rs142683238 0.00010
NM_024598.4(USB1):c.704A>T (p.Asp235Val) rs1018834431 0.00010
NM_024598.4(USB1):c.213G>A (p.Val71=) rs369515724 0.00006
NM_024598.4(USB1):c.452T>A (p.Phe151Tyr) rs375204675 0.00006
NM_024598.4(USB1):c.693G>A (p.Gln231=) rs770883144 0.00006
NM_024598.4(USB1):c.771C>G (p.Asn257Lys) rs149041481 0.00006
NM_024598.4(USB1):c.646G>A (p.Gly216Ser) rs778666156 0.00005
NM_024598.4(USB1):c.169G>A (p.Glu57Lys) rs745321157 0.00004
NM_024598.4(USB1):c.466A>C (p.Asn156His) rs748682814 0.00004
NM_024598.4(USB1):c.100G>A (p.Gly34Ser) rs769630452 0.00003
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.202G>A (p.Gly68Arg) rs774672635 0.00002
NM_024598.4(USB1):c.214C>T (p.Arg72Cys) rs567360825 0.00002
NM_024598.4(USB1):c.224C>T (p.Pro75Leu) rs763524876 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.700G>A (p.Val234Met) rs762033139 0.00002
NM_024598.4(USB1):c.226C>A (p.His76Asn) rs780752842 0.00001
NM_024598.4(USB1):c.326A>G (p.Tyr109Cys) rs764413085 0.00001
NM_024598.4(USB1):c.351G>C (p.Lys117Asn) rs1963453189 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.484A>C (p.Thr162Pro) rs1963565496 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.656G>A (p.Arg219His) rs757982322 0.00001
NM_024598.4(USB1):c.733C>T (p.Arg245Cys) rs182418203 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.104A>C (p.Gln35Pro) rs762585706
NM_024598.4(USB1):c.115C>T (p.Pro39Ser)
NM_024598.4(USB1):c.116C>A (p.Pro39His) rs1470407361
NM_024598.4(USB1):c.134T>C (p.Val45Ala)
NM_024598.4(USB1):c.145G>T (p.Val49Leu) rs1337464648
NM_024598.4(USB1):c.152A>C (p.Asn51Thr)
NM_024598.4(USB1):c.188A>T (p.Asp63Val)
NM_024598.4(USB1):c.205G>A (p.Gly69Arg)
NM_024598.4(USB1):c.208C>T (p.Arg70Trp) rs531886363
NM_024598.4(USB1):c.209G>A (p.Arg70Gln) rs767016894
NM_024598.4(USB1):c.211G>A (p.Val71Met)
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.229G>A (p.Glu77Lys)
NM_024598.4(USB1):c.231G>T (p.Glu77Asp) rs371393773
NM_024598.4(USB1):c.257A>G (p.Tyr86Cys)
NM_024598.4(USB1):c.259G>A (p.Val87Ile)
NM_024598.4(USB1):c.264A>G (p.Pro88=)
NM_024598.4(USB1):c.265+4A>G
NM_024598.4(USB1):c.277G>A (p.Glu93Lys) rs2142302137
NM_024598.4(USB1):c.280G>A (p.Glu94Lys)
NM_024598.4(USB1):c.306G>C (p.Leu102Phe)
NM_024598.4(USB1):c.316G>T (p.Ala106Ser) rs2142302186
NM_024598.4(USB1):c.334C>T (p.Arg112Trp)
NM_024598.4(USB1):c.338T>C (p.Leu113Pro) rs2142302302
NM_024598.4(USB1):c.347T>G (p.Met116Arg)
NM_024598.4(USB1):c.352G>A (p.Val118Met)
NM_024598.4(USB1):c.358C>T (p.His120Tyr)
NM_024598.4(USB1):c.367C>G (p.Leu123Val) rs777694507
NM_024598.4(USB1):c.389G>A (p.Arg130His)
NM_024598.4(USB1):c.389G>C (p.Arg130Pro)
NM_024598.4(USB1):c.412G>A (p.Val138Met)
NM_024598.4(USB1):c.430C>T (p.Arg144Cys)
NM_024598.4(USB1):c.431G>A (p.Arg144His)
NM_024598.4(USB1):c.431G>T (p.Arg144Leu) rs367780234
NM_024598.4(USB1):c.437C>A (p.Thr146Asn) rs1449480304
NM_024598.4(USB1):c.437CCT[1] (p.Ser147del)
NM_024598.4(USB1):c.449+3G>A
NM_024598.4(USB1):c.449+5G>C
NM_024598.4(USB1):c.450-1939A>G
NM_024598.4(USB1):c.450-20T>G
NM_024598.4(USB1):c.45G>T (p.Glu15Asp) rs2072558848
NM_024598.4(USB1):c.461C>T (p.Thr154Ile)
NM_024598.4(USB1):c.468C>G (p.Asn156Lys)
NM_024598.4(USB1):c.472G>C (p.Val158Leu)
NM_024598.4(USB1):c.47A>G (p.Asp16Gly) rs1335865347
NM_024598.4(USB1):c.490C>A (p.Gln164Lys)
NM_024598.4(USB1):c.499A>G (p.Thr167Ala)
NM_024598.4(USB1):c.502A>T (p.Arg168Trp)
NM_024598.4(USB1):c.503+4G>C
NM_024598.4(USB1):c.503+5dup
NM_024598.4(USB1):c.516_517delinsTT (p.Leu173Phe) rs2142311639
NM_024598.4(USB1):c.518T>G (p.Leu173Arg) rs1555498563
NM_024598.4(USB1):c.532G>C (p.Gly178Arg)
NM_024598.4(USB1):c.533G>A (p.Gly178Glu)
NM_024598.4(USB1):c.535C>T (p.His179Tyr)
NM_024598.4(USB1):c.539C>T (p.Ala180Val)
NM_024598.4(USB1):c.583G>A (p.Glu195Lys)
NM_024598.4(USB1):c.590A>G (p.Asn197Ser) rs377411772
NM_024598.4(USB1):c.592C>T (p.Leu198Phe) rs765307761
NM_024598.4(USB1):c.599C>G (p.Thr200Ser)
NM_024598.4(USB1):c.609+4A>G rs1963643441
NM_024598.4(USB1):c.611A>G (p.Asp204Gly) rs2142313474
NM_024598.4(USB1):c.61G>A (p.Gly21Arg) rs778756392
NM_024598.4(USB1):c.61G>C (p.Gly21Arg)
NM_024598.4(USB1):c.647G>T (p.Gly216Val)
NM_024598.4(USB1):c.651T>G (p.Asp217Glu)
NM_024598.4(USB1):c.652G>A (p.Ala218Thr)
NM_024598.4(USB1):c.653C>T (p.Ala218Val) rs1230519072
NM_024598.4(USB1):c.658C>G (p.Leu220Val)
NM_024598.4(USB1):c.701T>C (p.Val234Ala)
NM_024598.4(USB1):c.725T>A (p.Val242Glu) rs766841291
NM_024598.4(USB1):c.725T>C (p.Val242Ala)
NM_024598.4(USB1):c.745G>A (p.Glu249Lys) rs756831672
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.755G>A (p.Arg252His)
NM_024598.4(USB1):c.763T>A (p.Ser255Thr) rs2142314696
NM_024598.4(USB1):c.776TCT[1] (p.Phe260del) rs2142314709
NM_024598.4(USB1):c.785T>C (p.Met262Thr)

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